Property Summary

NCBI Gene PubMed Count 2,266
PubMed Score 5756.80
PubTator Score 6429.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Breast cancer 3098 0.0 5.0
Disease Target Count Z-score Confidence
Cancer 2346 7.413 3.7

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 2.300 4.6e-07
osteosarcoma -1.411 1.5e-02
glioblastoma 1.300 4.4e-06
group 3 medulloblastoma 2.500 6.3e-07
medulloblastoma, large-cell 1.700 1.3e-05
primitive neuroectodermal tumor 1.800 2.3e-04
non-small cell lung cancer 1.262 2.3e-16
intraductal papillary-mucinous carcinoma... 1.300 2.2e-03
intraductal papillary-mucinous neoplasm ... 1.700 4.9e-03
colon cancer 1.300 1.6e-02
lung cancer 1.700 1.5e-03
posterior fossa group A ependymoma 1.100 7.5e-06
lung adenocarcinoma 1.100 1.4e-06
nasopharyngeal carcinoma 1.300 6.0e-06

MLP Assay (2)

AID Type Active / Inconclusive / Inactive Description
624158 summary 0 / 0 / 0 qHTS Assay to Identify Small Molecule Activators of BRCA1 Expression: Summary
624202 confirmatory 3980 / 9535 / 364035 qHTS Assay to Identify Small Molecule Activators of BRCA1 Expression

Gene RIF (2283)

PMID Text
27026398 findings suggest that BRCA1 is a novel modulator of PP6 signalling via its interaction with ANKRD28.
27002934 BRCA1 mutation is associated with breast and ovarian cancer.
26997744 Findings show eight distinct pathogenic mutations in eight unrelated families and suggest that BRCA1/2 mutations are responsible for a significant proportion of hereditary and sporadic breast cancer among Algerian young women.
26989051 Comparison of male breast cancer tumors with female breast cancer tumors demonstrates that male breast cancer tumors arise more frequently from BRCA2 mutations and less frequently from BRCA1 mutations than female breast cancer tumors.
26970274 prolactin activation of Stat5 results in the formation of a complex between phospho-Stat5 and BRCA1. Formation of this complex does not interfere with nuclear translocation or binding of BRCA1 to the p21 promoter
26956035 A small subset of TNBC patients carried a BRCA1 deleterious somatic mutation; BRCA1 somatic mutation carriers are likely to respond to neoadjuvant chemotherapy
26888723 The study concluded that true HER2-amplified breast cancers are rare amongst BRCA1 mutation carriers and are less common in BRCA2 than background rates
26875018 This HCR-based genosensor is also capable of probing low-abundance BRCA-1 gene sequence directly in complex matrices, such as 50% human serum, with minimal interference.
26859126 Breast neoplasm recurrence is associated with BRCA1 germ-line mutation.
26857456 BRCA1/2 male breast cancers display distinct pathologic characteristics compared with BRCA1/2 female breast cancers , and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness
26852015 BRCA1 and BRCA2 mutations accounted for a considerable proportion of hereditary breast/ovarian cancer patients from eastern China and the spectrum of the mutations of these two genes exhibited some unique features
26833090 Results show that XPG partners with BRCA1 and BRCA2 to maintain genomic stability through homologous recombination, and its loss causes DNA breaks, chromosome aberrations, and replication fork stalling.
26831064 loss of CHK2 or PP6C-SAPS3 promotes Aurora-A activity associated with BRCA1 in mitosis
26778126 Demonstrate a mechanism involving IR-induced phosphorylation and dimerization of the BRCT/Abraxas complex for regulating Abraxas-mediated recruitment of BRCA1 in response to IR.
26748828 G4-quadruplex stabilizing drugs target tumors with BRCA1/2 deficiencies.
26740498 treatment response, survival, and the associations between KRAS mutation status and tumour expression levels of BRCA1, TYMS and SRC retrospectively in a cohort of patients with non-small cell lung cancer, were evaluated.
26727879 This study showed that UHRF1 interacts directly with BRCA1 and is involved in DNA double-strand break repair.
26715507 Results determined that constitutive AhR expression coupled to BRCA-1 promoter CpG hypermethylation may be predictive markers of ERalpha-negative breast tumor development.
26714653 Neuronal activity seemed to regulate BRCA1 levels, and accumulation of amyloid-beta depleted BRCA1 levels.
26700119 BRCA1 Mutation is associated with Breast Cancer.
26699641 Overall, these results indicate that Rad51 and BRCA1 are required for the process of human papillomavirus 31 genome amplification and suggest that productive replication occurs in a manner dependent upon recombination.
26698676 Treatment for infertility does not significantly increase the risk of ovarian cancer among women with a BRCA1 mutation.
26643130 BRCA1 promoter methylation appeared to be a useful predictive or prognostic biomarker for breast cancers in clinical assessment.
26637364 we show that XIST and 53BP1 can be used to identify BRCA1-like breast cancer patients that have higher event rates and poor outcome after HD chemotherapy.
26629528 Osteoprotegerin (OPG), The Endogenous Inhibitor of Receptor Activator of NF-kappaB Ligand (RANKL), is Dysregulated in BRCA Mutation Carriers
26625823 study to estimate the carrier frequency of BRCA1 185delAG and BRCA2 6174delT mutations in eastern Indian breast cancer patients; findings suggest that these BRCA mutations may not have a strong recurrent effect on breast cancer among the eastern Indian populations
26623723 most prominent alterations observed were the changes in BRCA1-mediated signaling and G1/S cell cycle checkpoint pathways
26615780 Levels of BRCA1 is reduced in the brains of Alzheimer's disease patients.
26588056 Studies suggest that the clinical management of cancer risk in breast cancer 1/2 proteins (BRCA1 and BRCA2) mutation carriers is complex and should consider patient preferences.
26577449 The aim of this study was to determine the frequency and spectrum of germline mutations in BRCA1, BRCA2 and PALB2 and to evaluate the presence of the CHEK2 c.1100delC allele in these patients.
26574845 Recognition of different invasion patterns of metastatic extrauterine high grade serous carcinoma with BRCA germline mutations has prognostic implications.
26543556 DNA from 120 subjects was used to sequence the entirety of BRCA1 and BRCA2 coding regions and splice sites, and validate pathogenic mutations, with a total material cost of $85/subject. Subjects ranged in age from 23 to 81 years
26526989 prolonged periods of sedentary behavior are associated with significantly lower BRCA1 mRNA expression
26496879 BRCA1-associated DCIS did not express ER, PR or HER2, while most BRCA2-associated DCIS did express ER and PR. BRCA1- as well as BRCA2-associated DCIS had expression of HER3 and C-MET
26490435 In situ BRCA1-related expression parameters could be used for clinical purposes at the time of diagnosis. In contrast, miR-548c-5p showed a promising potential as a prognostic factor in Triple negative breast cancers .
26488398 Brca1 Mutations Enhance Mouse Reproductive Functions by Increasing Responsiveness to Male-Derived Scent.
26484747 xxxxxxxxxxxxxxxxxxxxxxxxxxx
26483394 BRCA1 mutation is associated with Pancreatic Cancer.
26467044 In this cohort of BRCA1/2-associated breast cancer (BC) patients, no association between radiotherapy for primary BC and risk of (BC) contralateral breast cancer was observed in the total group, nor in the patients irradiated before the age of 40 years
26467043 The age of breast cancer diagnosis in the first-degree relative did not affect the annual breast cancer risks for BRCA1 mutation carriers
26439132 In this unselected Japanese population, approximately 13% of the cases with ovarian cancer appeared to be associated with an inherited risk, BRCA1/2 mutation, regardless of a family history.
26438354 BRCA1 mutation is associated with breast and ovarian Neoplasms.
26426992 pathogenic germline mutation in a patient with HER2-positive breast cancer
26414677 Data indicate major association with DNA damage response (DDR) genes, including the first common coding variant in breast cancer 1 protein (BRCA1) associated with any complex trait.
26412854 A novel lncRNA, DDSR1 (DNA damage-sensitive RNA1)was identified and it interacts with BRCA1 and hnRNPUL1, an RNA-binding protein involved in DNA end resection.
26406001 The results showed that the methylation levels of both BRCA1 and FHIT promoters were higher in the serum of the breast ductal carcinoma group than those of the breast fibroadenoma group.
26402875 BRCA1 mutation is associated with Korean ovarian cancer.
26392358 Data indicate tumor suppressors TP73, RASSF1A, MLH1 and BRCA1 as possible biomarkers to distinguish Pleomorphic invasive lobular cancer (pleomorphic ILC} from classic ILC and infiltrative ductal cancer (IDC).
26385482 Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin.
26378051 BRCA1 mutation is associated with invasive breast cancer.
26357657 The data identifies IL-1beta as a novel target in ovarian surface epithelial cells expressing the 185delAG BRCA1 mutation.
26335130 BRCA1 mutation carriers demonstrated normal ovarian response in IVF cycles.
26320175 BRCA1 SQ-cluster mutation results in aberrant mitosis, reduced homologous recombination, and a compensatory increase in non-homologous end joining
26299666 Differential Gene Expression of BRCA1,ERBB2 and TP53 biomarkers between Human Breast Tissue and Peripheral Blood Samples of Breast Cancer
26294743 Restoration of BRCA1 function stabilizes the genome compared with mutant BRCA1 that results in enhanced polyploid population after combination treatment with epigenetic modulating antineoplastic agents.
26269803 Oophorectomy benefits breast cancer patients survival rate.
26254840 BRCA1 mutation is associated with Breast Cancer.
26246475 Functional isogenic modeling of BRCA1 alleles could aid in classifying BRCA1 mutations and VUS, and determining BRCA allele cancer risk.
26239694 BRCA1 single nucleotide polymorphism is associated with ontralateral breast cancer.
26227626 Brca1 protein is specifically expressed in human spinal microglia and is up-regulated in ALS patients.
26227317 established a new function for BRCA1 in the survival and fate of prostate tumor cells, orchestrating oxidative stress and mounting a transcriptional regulatory machinery commanding HO-1 transcriptional activation
26225655 Mutation in the BRCA1 gene is associated with Breast and/or Ovarian Cancers.
26219241 BRCA1 Mutation is associated with Breast Cancer.
26195437 BRCA1 promoter methylation is an important mechanism that leads to functional loss of BRCA1 in triple-negative breast cancer
26195121 Breast cancer risk for Korean women with germline mutations in BRCA1.
26193202 BRCA1 5382insC may not have a strong recurrent effect in Romanian population comparing to neighboring countries.
26183948 Mutation profile of the BRCA1/2 genes in breast cancer Bulgarian patients show 13 disease causing mutations with 4 new. Mutations in BRCA1 gene were found in 14% and in BRCA2, in 5.5% of the cases. The inherited predisposition was identified in 19.5%.
26181175 Oophorectomy is associated with a decrease in mortality in women with breast cancer and a BRCA1 mutation.
26171949 Interlocus gene conversion event identified in a breast and ovarian cancer family involving exactly the same segment as that involved in the 37-kb deletions.
26162908 p53 was involved in inhibiting recombination by both BRCA1-dependent and -independent mechanisms.
26153499 BRCA1 mutation is associated with breast and ovarian cancers.
26121674 BRCA1 is a constituent of the triggered IFI16-inflammasome and is translocated into the cytoplasm after genome recognition along with the IFI16-inflammasome
26118501 These results demonstrate BAP1 as a major link with the BCR-ABL-induced downregulation of BRCA1 in CML.
26106036 Results identify a novel form of cellular senescence and provide a potential molecular basis for the rapid cell- and tissue- specific predisposition of breast cancer development associated with BRCA1 haploinsufficiency.
26085381 BRCA1 gene variant p.P142H is associated with male breast cancer.
26083025 Mutations in BRCA1 were most frequent in patients with triple-negative breast cancer.
26071757 Our findings offer insight into how various heterozygous mutations in BRCA1 could lead to impairment of BRCA1 function and provide strong evidence of haploinsufficiency in BRCA1 mutation carriers.
26057449 A model where BRCA1 cytosolic mislocalisation promotes breast cancer metastasis, making it a potential biomarker of metastatic disease.
26048987 The review highlights recent insights into the BRCA1 tumor suppressor network and stress the connections between basic molecular knowledge of these proteins and their roles in genome integrity, tumor suppression, and response to therapy. [review]
26047126 BRCA mutations that survive selection pressure seem to provide significant fertility advantages.
26029931 The current study aimed to investigate whether TRs may be specifically expressed in BRCA1 associated cancer cases.
26028024 Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations
26026974 BRCA1 mutation is associated with familial breast and ovarian cancer syndrome.
26022109 BRCA1 may act as an important negative regulator in cell cycle progression and tumorigenesis through regulating the stability of Smad4; this defines a novel link that connects BRCA1 to TGF-beta1/Smad pathway.
26014432 thus, report a Tyrolean BRCA1 founder mutation that correlates to a local increase in the breast and ovarian cancer risks.
26006218 IGF1 level is significantly lower in cancer-free BRCA mutation carriers versus BRCA-negative controls, and there is a potential association between estradiol and IGF1 in cancer-free BRCA mutation carriers
26004083 Triple negative breast tumors can be further divided into two major subgroups, BRCA1-like and non-BRCA1-like with different mutation and expression patterns and prognoses.
25987085 Homozygote haplotype of BRCA1 gene SNPs are associated with consanguinity Protecting effect Against Breast Cancer.
25981734 They also imply that therapeutic applicability of PARP-1 inhibitors is not limited to BRCA mutation carriers but can be extended to patients harboring deficiencies in other components of the pathway(s).
25980896 BRCA1 mutation is associated with ovarian cancer.
25971625 the prevalence of BRCA1 and BRCA2 mutations is high in triple-negative breast cancer patients and BRCA1/2 mutations are not restricted to young women or patients with a positive family history.
25971130 Mutations in the BRCA1 gene in breast cancer patients from Siberia confirmed data on the high frequency of "founder mutation" BRCA1 5382insC in Slavic population.
25961039 The study results indicated that BRCA1 positively regulates miR-143-miR-145 expression and miR-143-miR-145 can serve as promising novel biomarkers for breast cancer subtyping
25956865 The relationship between BRCA1 expression and base excision repair may be used to assess risk or predict prognosis for BRCA1 mutation carriers. (Review)
25948675 Men carrying genetic mutations in the BRCA gene( BRCA1 and BRCA2) have a greater risk than the general population of developing certain types of cancer, including breast, pancreatic, and prostate cancer.
25948282 analysis of novel A1/2 mutations in Polish patients with familial breast/ovarian cancer
25940717 Pathogenic BRCA1/2 mutations were identified in 4.6% of a large cohort of clinic-based pancreatic adenocarcinoma patients.
25939603 Findings illustrate that spatially distinct fractions of BRCA1 exist at the DSB site, which are recruited by different mechanisms and execute different functions in the DDR.
25927284 BRCA1 deficiency in ovarian cancer may have a role in alteration in expression of several key regulators of cell motility
25919761 differences in associations of common breast cancer susceptibility alleles between BRCA1 and BRCA2 carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors
25912308 Data show that expression of MFF protein, miR-593-5p and BRCA1 protein correlates with cisplatin sensitivity and survival of tongue squamous cell carcinoma (TSCC).
25909997 BRCA1 and CtIP contribute to DSB resection by recruiting Dna2 to damage sites, thus ensuring the robust DSB resection necessary for efficient homologous recombination.
25892146 Women with mutations in BRCA1 and BRCA2 have different risks of developing ovarian and breast cancer, depending on the nature of the mutations
25884417 somatic inactivation of BRCA1 through spliciogenic mutations is, at best, a rare mechanism in breast carcinogenesis, albeit our data detects an excess of likely inactivating AS events in breast tumor samples.
25880076 Our data show that BRCA1 expression is maintained in glioblastoma at the protein and the mRNA levels, suggesting that loss of heterozygosity (LOH) did not occur in these cases.
25879655 Cells that lack BRCA1 displayed severely reduced HIV-1 Tat-dependent transcription.
25879655 HIV-1 Tat associates with BRCA1 in cells and the amino-acid 504-802 region of BRCA1 physically interacts with HIV-1 Tat
25879355 Our results demonstrate in a subset of cases that decline in BRCA1 expression that may be associated with potentially compensatory increase in BRCA2 protein, which may depend on tumor grade as well as menopausal status.
25878326 Report discordant methylation of BRCA1 between mothers and daughters. Epimutation is unlikely transmitted from mother to daughters and hence may be a consequence of environmental exposure.
25868867 our findings demonstrate that among young Black breast cancer survivors, socioeconomic factors and physician referral patterns contribute to disparities in access to BRCA testing(BRCA1 and BRCA2 mutation detection)
25865228 Report autoimmune response to BRCA1 in tumors.
25863477 From an analysis of the mutation spectrum, 63 BRCA1 and 90 BRCA2 different mutations, including 44 novel mutations, were identified.BRCA mutations in familial breast cancer patients is similar to that among Western cohorts
25850293 The Russian carriers of BRCA1, BRCA2 and CHEK2 germline mutations have genetic predisposition to breast, ovarian, and colorectal cancer.
25849179 Breast and ovarian cancer risks varied by type and location of BRCA1/2 mutations. With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations.
25833210 Two novel heterozygous mutations predicted to alter the function of PALB2 were identified (c.2014G>C, p.E672Q and c.2993G>A, p.G998E). Notably, both of these mutations co-existed in BRCA1 and BRCA2 families
25830658 a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers
25825120 genomic regions that define our BRCA1-like classifier are robustly measured by different CN profiling technologies, providing the possibility to retro- and prospectively investigate BRCA1-like classification across a wide range of CN platforms
25824734 Mutations in BRCA1 gene is associated with breast cancer.
25821000 BRCA1 gene mutation is associated with breast cancer.
25816289 BRCA1 mutation carriers are not associated with worse breast cancer prognosis.
25808098 BRCA1 mutation is associated with breast cancer.
25805039 Hypermethylation at promoters of RARB, Dietary folate and cobalamin intake is inversely associated with methylated RARB and BRCA1. High dietary intake of riboflavin and pyridoxine is associated with increased methylation in the RARB promoter.
25803638 By binding and destabilizing a histone acetyltransferase, p300, beta-HPV 5 and 8 E6 reduce the enrichment of the transcription factor at the promoter of two genes critical to the homology dependent repair of DSBs (BRCA1 and BRCA2)
25800897 This review summarizes recent progress in studying the correlation between BRCA1 predisposition and epigenetic alterations in BRCA1-type familial breast cancer. [review]
25792249 Fertility treatments are not associated with an increased risk of invasive epithelial ovarian cancer in Jewish Israeli BRCA1/2 mutation carriers.
25788227 Study shows that Jewish BRCA1/2 mutation carriers are at an increased risk for breast and pancreatic, but not prostate cancer.
25783183 Results show that BRCA1 methylation was significantly higher in basal-like breast cancer subtype and closely associated with a significant decrease in overall survival and disease-free survival.
25777348 A prevalence rate of 5.6% for having deleterious BRCA1 or BRCA2 mutations among Lebanese Arab women with breast cancer
25762631 BRCA1 is upregulated by depletion of the eIF2.GTP.Met-tRNAi translation initiation complex
25756400 BRCA1 gene mutation is associated with gynecologic cancer.
25740706 FOXK2 might act as a negative regulator of ERalpha, and its association with both ERalpha and BRCA1/BARD1 could lead to the down-regulation of ERalpha transcriptional activity, effectively regulating the function of ERalpha.
25736863 BRCA1 tumors were less likely to be ER and HER2 positive than non-BRCA familial breast cancers. Fewer cases of lobular carcinoma were found with BRCA1 than with non-BRCA familial breast cancers.
25735359 BRCA1 gene mutations are associated with breast cancer.
25734415 Localized correlated spectroscopy recorded significant changes in women with BRCA1 and BRCA2 gene mutations when compared with control subjects. If these changes are ultimately proven to be a premalignant stage, this method may prove useful in screening.
25724305 Classification of nine BRCA1 variants as pathogenic in breast cancer.
25722380 Patients with recurrent ovarian cancer carrying the BRCA1(mut) had improved outcomes with trabectedin + pegylated liposomal doxorubicin.
25716084 There is a high prevalence of BRCA1 mutations among young triple-negative breast cancer patients in Mexico.
25711630 BRCA1 germ-line mutation is associated with breast cancer.
25701377 In this review, we compare the available structural data for BRCA1 BRCT domains in complex with phosphopeptides in order to gain a more complete understanding of the interaction between phosphopeptides and BRCA1-BRCT domains. [review]
25699710 BRCA1/SETX complexes support a DNA repair mechanism that addresses R-loop-based DNA damage at transcriptional pause sites.
25695063 AR, EGFR, and BRCA1 might be unique biomarkers for targeted therapy and prognosis in TNBC.
25682074 study identified a BRCA1 or BRCA2 germline mutation in 74 of 774 (9.6 %) triple-negative breast cancer patients; mutation prevalence was 9.3 % in Australia and was 9.9 % in Poland
25678442 Thirty-six large genomic rearrangements were detected; 32/122 (26%) BRCA1 and 4/132 (3%) BRCA2 mutations.
25675043 BRCA1 gene mutation is associated with breast cancer.
25654734 Expression of the peptide in human cells led to defects in DNA repair by homologous recombination, a process BRCA1 is known to coordinate
25652403 BRCA1 mutation associated functional variants predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.
25650659 The recruitment of mutp53/E2F4 complex onto specific regions of BRCA1 and RAD17 promoters leads to the inhibition of their expression.
25645916 BRCA1 binds to the inositol 1,4,5-trisphophate receptor calcium channel at the endoplasmic reticulum to stimulate apoptotic calcium release.
25643705 Describes a tool for online visualization of BRCA1 missense mutations.
25639900 Studies indicate that each of the three neoplasm protein variants in BRCA1, BRCA2 and MSH2 would normally be reported as pathogenic based on widely accepted guidelines.
25634209 BARD1 interacts with H3K9me2 through HP1 and plays a critical role in retention of a BRCA1/BARD1 complex at the site of DNA damage.
25622084 BRCA1 mislocalization is associated with breast carcinogenesis
25616998 The BRCA1-associated genomic aberrations identified in this study provide possible leads to a better understanding of BRCA1-associated oncogenesis.
25613119 Taking into account modifier factors, location of mutation might be important for the clinical management of BRCA1/2 mutation carriers.
25605143 BRCA1 promoter hypermethylation is associated with breast cancer.
25586199 c.68_69delAG, c.211A >G, deletion of exons 11-15, c.5123 C >A mutations were identified in a cohort of Spanish breast cancer patients.
25583261 BRCA1-IRIS inactivation overcomes paclitaxel resistance in triple negative breast cancers
25581732 Report roles BRCA1 status and tubual intraepithelial carcinoma on prognosis in women with high grade serous carcinoma.
25579682 BRCA mutation carriers exhibit a distinct CGG FMR1 repeat size pattern compared with the general population, but it is unlikely to account for the reported diminished ovarian reserve or act as a modifier breast cancer gene in BRCA mutation carriers.
25537514 Data indicate that three microRNAs hsa-miR-146a, hsa-miR-148a and hsa-miR-545 targeting BRCA1/2 and were associated with overall survival and progression-free survival in patients with wild-type BRCA1/2.
25531315 FOXA1 expression is regulated by methylation and chromatin silencing and that BRCA1 maintains FOXA1 expression through suppressing FOXA1 gene methylation in breast cancer
25526195 Germline mutations in DICER1 are rare or absent in familial breast cancer patients with BRCA1/BRCA2-negative familial breast cancers.
25522926 Tumor-associated inflammation density was the strongest predictor for recurrence-free survival in this series of BRCA1/2 breast cancer patients
25522274 BRCA1 regulated cell cycle checkpoints in a manner dependent on the 26S proteasome activity.
25520075 the frequency of BRCA1 hypermethylation reached 82.1% in the cases. hypermethylation of this candidate gene could be used as the promising biomarker application with Vietnamese breast cancer patients.
25503500 BRCA1/BRCA2 mutation carriers experienced a sense of disorientation about the most appropriate way of dealing with genetic risk
25503195 BRCA1 mutation is associated with breast cancer.
25499220 Thus, Fulvestrant but not Tamoxifen, antagonist against ER-alpha, can restore the Taxol sensitivity in VHL- or BRCA1-deficient cells. Our results suggest that pVHL-mediated ER-alpha suppression is important for regulation of MTOC as well as drug resistance.
25496700 There were significant correlations between plasma and tumor mRNA levels of BRCA1 and TS. BRCA1 levels in plasma and tumor were positively associated with docetaxel sensitivity
25486197 The results highlight a novel link between BRCA1 and NAD. The findings imply that genetic (e.g., BRCA1 inactivation) and NAD-dependent metabolic pathways are jointly involved in the malignant progression of ovarian cancer.
25485588 BRCA1 can regulate PARP1 levels and NAD-dependent PARP1 activity in breast cancer cells.
25483710 Most primary AML analyzed were characterized by low BRCA1 mRNA level and undetectable protein expression that likely contributed to explain their sensitivity to olaparib.
25483079 BRCA1, in cooperation with FancJ, promote centrosome amplification in DNA damaged cells.
25480944 Results provide a set of genetic and biologic proofs that TUSC4 functions as a bona fide tumor suppressor by regulating the protein stability and function of BRCA1 in breast cancer.
25476495 Non-founder mutations make up between 7.2 and 13.0 % of all BRCA1 and BRCA2 mutations in Ashkenazi Jews. A wide range of mutations are present, most of which are also seen in non-AJ individuals
25463638 This study indicates that genetic polymorphisms of AURKA, BRCA1 and CCNE1 may contribute to endometrial carcinoma susceptibility or progression in Chinese Han women.
25460500 BRCA1 expression is critical for mediating the biological impact of vitamin D3 in breast tumor cells.
25454609 Prostate cancer patients with germline BRCA mutations had worse outcomes than noncarriers when conventionally treated with surgery or radiation therapy.
25447904 A role for BRCA1 in induction of Pol III genes by alcohol and a novel mechanism of alcohol-associated breast cancer.
25445393 The study shows evidence of the modulation effect of BRCA mutation on the expression of microRNA-200c in Triple negative breast cancer progression.
25437005 genomic instability score in discriminating nonequivalent outcomes of BRCA1/2 mutations and in predicting outcomes of ovarian cancer treated with platinum-based chemotherapy
25428789 Mutations in BRCA1 and BRCA2 or another breast cancer gene occur in one in four African American breast cancer patients with early onset disease, family history of breast or ovarian cancer, or TNBC
25428229 The study concluded that ovarian tumors with mutations closer to the N-terminal of BRCA1 may have a higher risk of DNA aneuploidy
25422243 The methylation status of BRCA1 in EOC was positive in 89.9%, with clear protein expression of BRCA1 in 31.9%.
25418591 targeting relevant exons in BRCA1 and BRCA2 genes allows detection of a substantial percentage of mutations in the Tunisian population.
25417703 EGFR expression correlates negatively with BRCA1, whereas miR-146a levels increase with BRCA1.
25416788 Results show that cabazitaxel resistance mechanisms involve alterations in microtubule dynamicity, as manifested by higher expression of TUBB3 and decreased BRCA1.
25414026 This study provides evidence for distinct sensitivity of BRCA1 and CHEK2 mutation-driven breast carcinomas to standard chemotherapeutic schemes.
25403427 The present results suggest the presence of a strong link between aberrant methylation of the BRCA1 promoter in WBC and breast cancer -related molecular changes, which indicate the potential predisposition of the carriers for developing breast cancer.
25400221 haploinsufficiency and replication stress suppression
25398451 analysis of effect of germline mutations in BRCA1 and BRCA2 on mortality in ovarian cancer patients; BRCA1/2 mutations are associated with better short-term survival, but this advantage decreases over time and, in BRCA1 carriers is eventually reversed
25394901 Patients with breast cancer display high levels of miR-218 and low levels of BRCA1 expression.
25380576 BRCA1 rs71361504 SNP may modify the endometriosis risk in Indian women. In addition, decreased expression of BRCA1 may play an important role in the pathophysiology of endometriosis in Indian population.
25376744 Methylation of the promoter of the BRCA1 gene detectable in peripheral blood DNA may be a marker of increased susceptibility to triple-negative or medullary breast cancer.
25372568 The risk of metachronous breast cancer is low in patients with known BRCA mutations and EOC.
25356972 Germ-line DNA samples from 727 unrelated probands with positive family history (521 met criteria for familial pancreatic cancer) were tested for mutations in BRCA1 and BRCA2, PALB2, and CDKN2A.
25348513 Our analyses suggest that BRCA mutations(BRCA1 and BRCA2) are robust predictors of outcomes in both ovarian and breast cancers and these mutations should be taken into account when devising appropriate therapeutic strategies
25342642 BRCA1 mutation is associated with triple-negative breast cancer.
25339023 Genetic variations in miRNA-binding sites of BRCA1 and BRCA2 genes as risk factors for the development of early-onset and/or familial breast cancer
25337278 The four most frequent BRCA1 mutations found in female breast cancer cases in Guangxi are all located in exon 10. BRCA1-associated breast cancer cases have earlier onset age, higher nuclear grade and negative ER and CerbB-2 expression.
25337234 MCF-7 cell BRCA1 levels increased upon treatment with a high dose of adriamycin, but gradually decreased over time.
25323003 these results highlight a novel interaction between BRCA1 and SIRT1, which may be beneficial for the dynamic balance between BRCA1-related biologic processes and SIRT1-related energy metabolism and stress response.
25319390 miR-185 suppresses tumor proliferation by directly targeting E2F6 and DNMT1 and indirectly upregulating BRCA1 in triple-negative breast cancer.
25311111 BRCA1 mutation is associated with breast and ovarian cancer.
25310973 BRCA1 interaction with CtIP is not essential for DNA-end resection. BRCA1 interaction with CtIP affects resection speed.
25273865 Combination of TT genotype and miR-1179 over-expression generates a lack of BRCA1 protein leading to a high risk of familial breast cancer with distant metastases.
25267367 We hereby report two cases of male breast cancer with neurofibromatosis.
25266802 The functional BRCA1 rs799917 polymorphism contributes to gastric cancer susceptibility.
25257187 The observed rate of 3 of 5754 cases (0.052%) of head and neck cancers in BRCA-positive probands warrants further investigation into the nature of a possible linkage between germline BRCA mutations and salivary gland cancer.
25256924 findings show BRCA1 carriers may have a decreased ovarian reserve, as evidenced by lower antimullerian hormone serum levels, compared with women without BRCA mutations
25252691 hyperfunctioning BRCA1 can elicit genomic abnormalities similar to those observed in the absence of certain BRCA1 functions.
25251729 The observed age difference may allow a greater understanding of mechanisms associated with the differences in cancer penetrance in BRCA1/2 mutation carriers, some of which may depend on paternal origin.
25239453 our work offers the first genetic evidence that Brca1 directly suppresses EMT and LSC dedifferentiation during breast tumorigenesis
25228385 miR-638 plays an important role in triple-negative breast cancer progression via BRCA1 deregulation.
25227663 concomitant low expression levels of ERCC1, RRM1, and RRM2 and the high expression level of BRCA1 were predictive of a better outcome.
25217519 This work offers a preclinical proof-of-concept for a wholly new approach to chemoprevention in carriers of BRCA1 mutations as a strategy to reduce the prevalence of BRCA1-associated malignancy
25216750 CD338 expression is specific to the tumor-initiating luminal progenitor subpopulation of BRCA1-mutated cells and is a novel antigen with which to sort this subpopulation.
25205741 report here a novel function of BRCA1 in maintaining chromosomal stability through its contribution to the mitotic centromere integrity necessary for faithful segregation of sister-chromatids during cell division
25205036 BRCA1-BER deficient cells could be targeted by ATM or DNA-PKcs inhibitors for personalized therapy.
25195694 the analysis of studies to date that have evaluated the risk of BRCA1 and BRCA2 mutations for colorectal cancer (Review)
25194442 The association between the BRCA1 rs799917 polymorphism and breast cancer risk.
25184681 new roles for BRCA1 in the restart of transcription after UV damage and in preventing or repairing damage caused by stabilized R loops were identified
25176351 Study showed that large genomic rearrangements were found in 3.7% of the patients who had mutations in BRCA1 or BRCA2, and 7.5% of patients with mutations in BRCA1 only.
25164908 patients with low RAP80 expression received gemcitabine/cisplatin, those with intermediate/high RAP80 expression and low/intermediate BRCA1 expression received docetaxel/cisplatin
25155055 a small proportion of normal breast epithelial cells with BRCA1 promoter methylation can be precursor cells from which BRCA1-methylated breast tumors may originate
25136623 This review is aimed at exploring the current knowledge on epidemiological and molecular aspects of BRCA-associated (BRCA1 and BRCA2 ) Ovarian cancer predisposition
25132264 A new role of FANCG in Homologous recombination repair of interstrand crosslinks through K63Ub-mediated interaction with the Rap80-BRCA1 complex.
25132263 data show that BRCA1-IRIS, in addition to promoting ovarian cancer proliferation and survival, helps dislodged tumor cells to survive in the ascites by suppressing anoikis in them by inducing the autocrine loop 'BDNF/TrkB'.
25131202 BRCA1/BARD1 as a histone-H2A-specific E3 ligase, helping to explain its localization and activities on chromatin in cells.
25131201 Double strand break-associated chromatin reorganization is a critical modulator of BRCA1-dependent genome maintenance.
25129345 Platinum-based chemotherapy is effective in a high proportion of patients with BRCA1-associated breast cancer.
25103497 TGFbeta can induce "BRCAness" in certain breast cancers carrying wild-type BRCA genes and enhance the responsiveness to PARP inhibition.
25092866 Cell lines derived from basal-like breast cancers are BRCA1 mutant breast cancer cells phenocopies with respect to a subset of BRCA1 functions that direct the repair of stalled and collapsed replication forks.
25085752 BRCA1 mutation is associated with breast cancer.
25084169 Results suggest that BRCA1 participates in ALT through its interactions with RAD50 and BLM.
25082516 BRCA1 mutation is associated with breast cancer.
25078585 Patients with high RRM1 expression benefited more from a platinum-containing regimen, and patients with high BRCA1 expression showed a high response rate to a platinum-containing regimen and reduced disease progression.
25070656 BRCA1 and BRCA2 contribute to a genetic predisposition for breast cancer.
25066507 Genetic analysis revealed 32 different pathogenic germline BRCA1/2 mutations: 20 in the BRCA1 gene and 12 in the BRCA2 gene, including four different large genomic rearrangements in the BRCA1 gene.
25066186 A recurrent BRCA1 exon 21-22 genomic rearrangement identified in Malay breast cancer patients.
25056273 The BRCA1 K898E variant may render carriers susceptible to DNA damage and malignant transformation.
25048467 BRCA1 mutation is associated with breast cancer.
25047474 Mutations in the BRCA1 gene is associated with breast and ovarian cancer.
25047471 BRCA1 mutation is not associated with nodal metastasis in breast cancer.
25041116 Mutations in BRCA1 gene is associated with breast cancer.
25036526 absence of BRCA/FMR1 correlations in women with ovarian cancers
25011685 Study validates the finding of positive selection of BRCA1 in humans and their closest ape relatives, chimpanzees and bonobos. Also show that specific codons in BRCA1 have experienced recurrent positive selection over evolutionary time, within and outside of exon 11, resulting in a small number of highly variable residue positions in an otherwise highly conserved protein.
25010005 Our study suggests a new function for BRCA1 in cell metabolic regulation, globally resulting in reversion of the Warburg effect.
24996439 Data suggest that the Fanconi anemia group F protein/BRCA1/2 proteins pathway may be a new target to reverse adriamycin (ADR) resistance in leukemia treatment.
24969878 The prevalence of BRCA1 mutations in Uighur women.
24951607 Intentions to undergo PND or PGD do not appear to change after disclosure of BRCA results. Additional counseling for patients who have undergone BRCA testing may be warranted to educate patients about available fertility preservation options.
24950059 single copy loss of BRCA1 function may impact differentiation, rendering cells more susceptible to undergoing malignant processes
24947589 we found the first recurrent large deletion in BRCA1 in Poland in 3 unrelated patients diagnosed with ovarian cancer
24947414 In sporadic breast carcinomas, BRCA1 protein depicts different prognostic significance, according to its subcellular distribution.
24947112 conclude that contralateral risk-reducing mastectomy is associated with improved overall survival in BRCA1/2 mutation carriers with a history of primary breast cancer
24942640 Data show that in 70 samples of young patients, BRCA1 protein was positive 85.7% in cytoplasm and 41.4% in nuclear, and nuclear expression is not significantly associated with clinicopathological characteristics in young patients.
24935384 No association between BRCA1 immunohistochemical expression and tumor grade, stage or overall survival was noted in platinum-treated epithelial ovarian cancer patients.
24915755 A variant in the 3'UTR of BRCA1 is functional, leading to decreased BRCA1 expression, modest increased breast cancer risk, and most importantly, presentation with stage IV breast cancer, likely due to aggressive tumor biology.
24894343 TNBC is a strong predictor for the presence of a BRCA1 mutation in this population, but additional risk factors should also be evaluated to ascertain a 10 % or higher prior probability of BRCA1/2 mutation testing.
24889916 Our data suggest that BRCA1 methylation determines the earlier onset of high-grade serous ovarian cancer and supports the idea that BRCAness is not only due to mutations but also to epigenetic changes in BRCA1 promoter gene.
24884828 Findings contribute significantly to the types of germline BRCA1/BRCA2 mutations and their biological effects in Turkish women.
24884718 Report genome instability in the genomes of non-breast cells in the BRCA1+ familial breast cancer family.
24854656 we found that low expression of ERCC1 and BRCA1 can be useful for selecting NSCLC patients who would benefit from chemotherapy and warrants further investigation in prospective studies
24853100 Data indicate that BRCA mutation status did not influence the generational difference in age at diagnosis .
24825122 BRCA1 promoter methylation remains a favorable factor in regard to PFS.
24797986 BRCA1 mutations are associated with breast and ovarian cancer.
24775809 The negative interplay between Aur A/B and BRCA1/2 inversely controls the cell proliferation, cell cycle progression, cell multinuclearity, and tetraploidization to modulate tumorigenesis.
24771600 A model designed to yield optimal intervention strategies including prophylactic surgeries and breast screening for BRCA1/2 mutations carriers is presented.
24770866 We found that 16 % of unselected cases of ovarian cancer in Belarus carried one of three founder mutations in the BRCA1 gene
24752797 Low expression of BRCA1 was associated with serous ovarian cancer.
24746700 Regulation of splicing by the BRCA1-mRNA splicing complex plays an important role in the cellular response to DNA damage.
24729269 We report here 33 BRCA1 point mutations, among which 2 novel missense variants, found in 59 Central Sudanese premenopausal breast cancer patients.
24728189 Mutations were most frequent in BRCA1 and BRCA2, with 84 EOC cases (3.8%) carrying a BRCA1 mutation and 94 epithelial ovarian cancer cases (4.2%) carrying a BRCA2 mutation.
24726640 Genomic aberrations of BRCA1-mutated fallopian tube carcinomas.
24708616 The assessment of FANCD2, RAD51, BRCA1 and BRIP1 nuclear proteins could provide important information about the patients at risk for treatment failure.
24700448 BRCA1 mutation is associated with breast and ovarian cancer.
24698998 May be associated with cancer risk in BRCA1/2 mutation carriers.
24695549 Co-precipitation analysis further demonstrated that it has a reduced ability to interact with BARD1.
24686251 All the BRCA1 LGRs arose from unequal homologous recombination events involving Alu elements.
24681740 A subset of uterine serous carcinomas shows the loss of BRCA1 protein and is associated with germline mutation.
24680865 This study therefore sheds light on the mechanisms underlying AZA resistance, and will enable better understanding of AZA resistance in patients undergoing AZA treatment.
24675954 this study argues that tumor suppression by BRCA1 and BRCA2 originates from their fundamental role in controlling the assembly and activity of macromolecular complexes that monitor chromosome duplication, maintenance, and segregation across the cell cycle.
24672057 depletion of genes within the ataxia telangiectasia and Rad3 related (ATR) and BRCA1/BRCA2 pathways, chromatin modification, and transcription-coupled repair reduced the synergy between mitomycin C and MLN4924
24667604 MERIT40 interacts with ABRAXAS which is adaptor molecule of BRCA1-complex.
24638981 Findings provide pivotal new insights into why BRCA1 mutation drives the formation of tumors in estrogen-regulated tissues, despite the general role of BRCA1 in DNA repair in all cell types.
24633894 We report a novel mutation (c.1918C>T) in the exon 11 of the BRCA1 gene
24629213 The BRCA1 founder mutation and polymorphisms in CYP1A1 and CYP17 can increase the breast cancer risk among Inuit women, and the risk increases with higher serum levels of perfluorooctane sulfonate and perfluorooctanoic acid.
24629067 results indicate that BRCA1 may be a potential regulator of GR in ovarian cancer cells.
24625110 Data suggest the BRCA1 Deficient-Like (BD-L)signature as a biomarker to identify sporadic breast cancer patients who might benefit from a combination of PARP inhibitor and temozolomide and may be indicative of a dysfunctional BRCA1-associated pathway.
24615043 Analysis of a larger population is required in order to highlight the relevance of the Q356R and T327T mutations in BRCA1 gene in young Moroccan breast cancer patients.
24607278 This work highlights the contribution of DNA, RNA, and in silico data to assess the pathogenicity of BRCA1/2 variants of uncertain significance, which, in turn, allows more accurate genetic counseling and clinical management of the families carrying them.
24600974 present study suggests that the AA genotype of BRCA1 K1183R polymorphism is associated with a favorable survival in HER2 positive familial breast cancer patients
24599715 The findings implicate an important role of variants in the ATM- CHEK2- BRCA1 axis in modification of the genetic predisposition to papillary thyroid carcinoma and its clinical manifestations.
24591564 Taken together, these results highlight an important role for breast cancer proteins BRCA1 and PALB2 in the regulation of diverse growth regulatory pathways.
24577588 Metastatic high-grade serous carcinomas with BRCA1 deficiency exhibit characteristic morphological features that appear more sensitive and specific for BRCA1 and BRCA2 mutations than two other morphologically based prediction systems
24569164 Study characterized a total of 63 BRCA1 alternative splicing events, including 35 novel findings.
24567435 Preventive oophorectomy was associated with an 80% reduction in the risk of ovarian, fallopian tube, or peritoneal cancer in BRCA1 or BRCA2 carriers and a 77% reduction in all-cause mortality.
24566764 In conclusion, our result shows that large genomic rearrangement in the BRCA1 and BRCA2 genes account for a very low proportion of BRCA mutations and does not seem like a major determinant of breast cancer susceptibility in Korean, breast cancer patients.
24565757 BRCA1 plays a critical role in the regulation of metabolic function in skeletal muscle.
24556685 These data demonstrate the importance of S100A2 downstream of the BRCA1/DeltaNp63 signalling axis in modulating transcriptional responses and enforcing growth control mechanisms through destabilisation of mutant p53.
24529552 BRCA1/2 mutation carriers are potentially at higher risk of cardiovascular diseases due to early surgical menopause, and cardiotoxic effects of adjuvant treatment for breast cancer.
24528374 Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T).
24526546 BRCA1 and BRCA2 mutations are associated with breast cancer.
24521615 A novel association between BRCA1 and NUSAP1 is revealed and a mechanism whereby NUSAP1 is involved in carcinogenesis was elusidated.
24519767 women who are positive for BRCA mutations and who are treated for stage I or II breast cancer with bilateral mastectomy are less likely to die from breast cancer than women who are treated with unilateral mastectomy.
24518526 BRCA mutations in prostate cancer patients.[review]
24516540 The BRCA1 c.190T>C is a pathogenic founder mutation present in the Italian population.
24489791 This study used multifactorial likelihood analysis and/or bioinformatically-directed mRNA assays to assess pathogenicity of 19 BRCA1 or BRCA2 variants.
24489760 There was no evidence for association between developing breast/ prostate cancer or being a BRCA1 or BRCA2 mutation carrier and telomere length.
24481681 analysis suggests that classification methods for BRCA1 variants based on sequence conservation might be useful in a clinical setting
24479546 This finding indicates involvement of hereditary factors in non-BRCA1/2 breast cancer families.
24477976 poor prognosis of young BRCA1/2 mutation carriers with breast cancer is mainly explained by the prevalent occurrence of negative prognostic factors rather than mutation status
24472556 HUWE1 promotes BRCA1 ubiquitination.
24472143 our study did not find association between the three most common BRCA1 & BRCA2 mutations and endometriosis
24470238 Data indicate that in mammary tumors, the mRNA expression of GPRC5A significantly correlated with that of BRCA1.
24464625 Overexpression of DNMT1/3a was correlated with promoter hypermethylation and reduced expression of estrogen receptor-alpha and BRCA1.
24458845 Among BRCA1 mutation carriers, oral contraceptive use was significantly associated with an increased risk of breast cancer for women who started the pill prior to age 20
24443257 Our results suggest that ERCC1 and BRCA1 mRNA expressions are associated with progression-free survival and overall survival in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy.
24442642 We demonstrate that circulating PE and EM are strongly and positively correlated with tissue-specific PE and EM measured in NAF and DLS among postmenopausal BRCA1/2 mutation carriers
24385383 BRCA1 promoter methylation plays an important role in the functional inactivation of BRCA1.
24378767 These findings highlight a novel role for BRCA1 in protective autophagy, which may make its essential contribution to tumorigenesis and prognosis.
24378620 This pilot study evaluates the relation between carrying a BRCA1/2 mutation and fertility, using the level of anti-mullerian hormone (AMH), which has been previously shown to be an accurate marker of ovarian reserve and fertility potential.
24378347 CDK1 inhibition represents a plausible strategy for expanding the utility of PARP inhibitors to BRCAproficient breast cancers.
24372583 Twelve pathogenic mutations were detected (25%); three in BRCA1 (c.211dupA in four families, c.5266dupC in three families and c.1504_1508delTTAAA in one family) and two novel mutations in BRCA2 (c.1313dupT in two families and c.7654dupT in two families).
24342616 data indicate that HUWE1 is a critical negative regulator of BRCA1 and suggest a new molecular mechanism for breast cancer pathogenesis
24337974 BRCA1 CpG island hypermethylation is sensitive to PARP1 inhibitors.
24335192 The expression of BRCA1 is modulated by EZH2 in epithelial ovarian cancer and BRCA1 is required for the effects of EZH2 downregulation on biological behaviors of tumor cells.
24321281 EGFR expression was higher in normal tissues of BRCA1-mutated patients, and was further increased in cancer tissues; EGFR levels were also significantly elevated in ovarian cancer with promoter hypermethylation-mediated inactivation of BRCA1.
24312913 the global spectrum of BRCA1 mutations in breast cancer (Review)
24306927 Studies suggest that in the majority of cases with BRCA1 and BRCA2 negative familial breast cancer the etiology is due to interactions of intermediate or low risk alleles with environmental and lifestyle factors.
24297685 Detected is a novel mutation, p.His1746 Pro (c.5237A>C), which was found in BRCA1 exon 20 of a breast cancer patient. This mutation could alter the stability and orientation of the BRCT domain and the differential binding of the BACH1 substrate.
24293149 BRCA1 promoter constructs that carry the variants wild type or g.3988C showed a higher level of gene expression when estrogen is present.
24292448 The SIR for BRCA1 carriers was 0.92.
24289923 OLA1 plays an important role in centrosome regulation together with BRCA1.
24289560 Neither BRCA1 nor the BRCA2 studied variant show any significant association with the disease.
24285858 BRCA1 mutation carriers conferred lower overall breast and ovarian cancer risks than reported so far, while the estimates of BRCA2 mutations were among the lowest in a Dutch cohort.
24285840 Noncarriers remain at risk in the prospective follow-up of women who are negative for BRCA1/2.
24285729 both BRCA1 and PALB2 are required for BRCA2-focus formation when the DBD is absent.
24281364 No association between FMR1 low genotypes and BRCA1/2 mutations in a cohort of 125 Ashkenazi women.
24265793 the total mutation burden coupled with BRCA1 or BRCA2 mutations in ovarian cancer is a genomic marker of prognosis and predictor of treatment response.
24258259 the present meta-analysis provides evidence that BRCA1 methylation is associated with a poor survival of breast cancer patients.
24249303 L63X may be one of the founder mutations in Japan.
24244429 results establish a novel mechanism underlying the cooperative antileukemic activities of these drug combinations in which panobinostat suppresses expression of BRCA1, CHK1, and RAD51 to enhance cytarabine and daunorubicin sensitivities in AML cells.
24244370 LUDLU-1 contains somatic mutations in TP53 and BRCA2, allelic imbalance in the expression of two cancer-associated BRCA1 germline polymorphisms and reduced transcription of a potentially endogenous PARP2 inhibitor.
24239235 BRCA1 is a novel and previously unrecognized target that may shield vascular smooth muscle cells from oxidative stress by inhibiting NADPH Nox1-dependent ROS production.
24218601 BRCA1 and members of the ubiquitin pathway are selectively required in cancers that harbor CCNE1 amplification.
24217135 BRCA1/2 mutation carriers seemed to be more at risk of neutropenia after the first cycle of the treatment in early breast cancer patients
24196303 Consequently, the p53/Ki-67 ratio showed an age-dependent increase, which was accelerated in the BRCA1-positive patients.
24191908 BRCA1 promoter hypermethylation, 53BP1 protein expression and PARP-1 activity as biomarkers of DNA repair deficit in breast cancer.
24191513 Preventive surgery should be considered especially in BRCA1 gene mutation carriers previously treated for breast cancer because of the increased risk of ovarian cancer
24168967 miR-9 mediates the downregulation of BRCA1 and impedes DNA damage repair in ovarian cancer. miR-9 may improve chemotherapeutic efficacy by increasing the sensitivity of cancer cells to DNA damage and may impact ovarian cancer therapy.
24166279 BRCA1 regulates glucocorticoid receptor expression and activity.Loss of glucocorticoid receptor activation is a hallmark of BRCA1-mutated breast tissue.
24158819 HIV-1 Tat associates with BRCA1 in cells and the amino-acid 504-802 region of BRCA1 physically interacts with HIV-1 Tat
24153343 genetic associations studies in populations of women in South Korea: Data suggests that consumption of soy foods is associated with lower breast cancer risk and this lower risk of breast cancer extends to subjects with BRCA1 and BRCA2 mutations.
24151232 BRCA1-mediated inflammation and growth activated and inhibited transition mechanisms between no-tumor hepatitis/cirrhotic tissues and hepatocellular carcinoma.
24145998 these data support the hypothesis that the presence of BRCA mutations does not alter the clinical outcome for hereditary breast cancer patients.
24145348 Studies suggest that associations between ever use of oral contraceptive (OC) and ovarian and breast cancer among women who are BRCA1 or BRCA2 mutation carriers are similar to those reported for the general population.
24142877 endogenous BRCA! p220 aberrantly directs at least one DNA repair protein, RAD51, to damage sites, where their action contributes to the development of de novo DNA damage
24140203 Carriers of BRCA1/BRCA2 mutations are exposed to higher titres of oestradiol and progesterone-known risk-factors for breast cancer.
24136669 Pregnancy concurrent with or after a diagnosis of breast cancer does not appear to adversely affect survival among BRCA1/2 mutation carriers.
24131977 We propose that the increased proliferation due to in large part to increased IGF-1 activity is key and is a potential entree for preventing breast cancer in BRCA1 mutation carriers
24131973 Our data demonstrate a wide variety of BRCA mutations in a highly ethnically diverse EOC population, and confirm that EOC BRCA mutation carriers have better prognosis with longer median survival than patients with nonhereditary disease.
24131965 As 60%-80% of all advanced ovarian cancers are high-grade serous type, exhibiting HRD in at least 50% (BRCA1/2 mutations ) future antitumor strategies may depend on identifying these defects through molecular testing
24091731 With upregulation of BRCA1, downregulation of CTSL, stabilization of 53BP1, and 53BP1 IRIF formation throughout the cycle, indicating that BRCA1 and 53BP1 are important in replicating cells and dispensable in non-cycling cells.
24085845 Stabilization of mutant BRCA1 protein confers PARP inhibitor and platinum resistance.
24081944 found no evidence that BRCA1 and BRCA2 mutation carriers are at higher risk of natural menopause at a given age than their noncarrier relatives
24081797 BRCA1 mutation is associated with response to chemotherapy in ovarian cancer.
24073851 Data on crystal structure of BRCA1 binding with phosphopeptides suggest that C-terminal domain of BRCA1 interacts with ATRIP and BAAT1 with preferences for specific side chains; phospho-Ser269 and Phe272 in BAAT1; phospho-Ser239 and Phe242 in ATRIP.
24067368 In response to replication stress and DNA damage, BRCA1 plays a critical role in down-regulating the kinase activity of both cyclin-dependent kinases and PLK1.
24065545 The first comprehensive analysis of large mutations in BRCA1 and BRCA2 genes in Poland, is reported.
24065114 The distribution of FMR1 CGG repeat numbers in BRCA mutation carriers and non-carriers is similar in contrast to previous reports.
24026861 BRCA1 promoter methylation is a common mechanism of BRCA1 gene aberration in sporadic breast cancer and is predictive for better response to anthracycline-based therapies.
24010542 study screened 473 breast/ovarian cancer patients with family history, aiming to define the prevalence and enrich the spectrum of BRCA1/2 pathogenic mutations occurring in the Greek population; an overall mutation prevalence of 32% was observed. 6 BRCA1 recurrent/founder mutations dominate the observed spectrum
24000781 Triple-negative phenotype significantly increases the risk of having BRCA1 mutation in high-risk breast cancer patients compared with non-TNBC.
23994874 BRCA1/CtIP-mediated processing of the second end of the break controls the annealing step that normally terminates synthesis-dependent strand annealing, thereby suppressing the error-prone long-tract gene conversion outcome.
23992000 Germline BRCA1 mutations are associated with breast cancer.
23984822 The importance of BRCA1 haplotypes and the BRCA1 intron 7 polymorphism in familial breast cancer was studied.
23982851 Patients with apparently sporadic triple-negative breast cancer younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1
23982256 BRCA1 mutation is associated with breast cancer.
23980083 Age at treatment and use of tamoxifen are important predictors of chemotherapy-induced amenorrhea in women who carry a BRCA1 or BRCA2 mutation.
23975317 BRCA1 mutation is associated with triple-negative breast cancer.
23975082 The risk of finding a BRCA1/2 mutation in women 40 years or younger is comparable to women of all ages with epithelial ovarian cancer.
23958087 results indicate that BRCA1 5382insC is a common mutation in Romanian women with breast cancer
23957571 Our results indicate that carriers of BRCA1/2 mutations among non-Caucasian breast cancer patients showed no enhancement in radiation sensitivity.
23954390 BRCA1 frameshift mutation associated with multiple sclerosis and cancer.
23941904 BRCA2 mutations confer a survival advantage compared with the BRCA1 mutation in BRCA-mutated epithelial ovarian cancer patients.
23935836 The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer.
23928241 This article reviews current recommendations and limitations of using MR imaging of the breast to screen asymptomatic women at high risk for breast cancer. [review]
23918944 provides evidence that tamoxifen use is associated with a reduction in contralateral breast cancer risk for BRCA1 and BRCA2 mutation carriers
23901102 BRCA1 promotes the ubiquitination of PCNA and recruitment of translesion polymerases in response to replication blockade.
23881989 Less well known are data that intact BRCA1 function may be important for an optimal response to taxane-based therapy
23880761 Progesterone receptor A stability is mediated by glycogen synthase kinase-3beta in the Brca1-deficient mammary gland.
23879077 Multiplex ligation-dependent probe amplification of Egyptian breast cancer patients showed 18.2% with BRCA1 mutation. Those with 1st and 2nd-degree relatives showed a significant difference between the percentage with positive versus negative BCRA1 LGRs.
23877192 Germline mutations in two major genes, BRCA1 and BRCA2, may have an important influence on the predisposition and development of familial breast cancer.
23867999 Deleterious BRCA1 mutation in women with ovarian cancer was an independent risk factor for carboplatin hypersensitivity reactions.
23860775 Data indicate that patients negative for BRCA1 protein were more often with pathological tumor-node-metastasis stage III, positive for lymph node metastasis and MYC overexpression than BRCA1-positive tumors.
23857982 the role of BRCA1 in regulating Nrf2 activity suggests important implications for both the etiology and treatment of BRCA1-related cancers.
23851432 Data indicate that an increase in cytosolic BRCA1 distribution was associated with higher pathologic stage of pancreatic ductal adenocarcinoma (PDAC).
23846919 Studies indicate that germline mutations in BRCA1/2 and related genes, such as PALB2, are associated with pancreatic cancer.
23842040 Segregation analysis revealed that Y1853C, but not A1752G, was cosegregated in affected with breast cancer family members. Conservation, transcription and structure analyses also supported the pathogenic potential of Y1853C.
23810788 BRCA1 mutation is associated with response to therapy in sporadic cancer.
23803067 High BRCA1 expression is associated with non-small cell lung cancer.
23787073 This study indicates that genetic polymorphisms of AURKA, BRCA1 and CCNE1 may affect ovarian cancer susceptibility in Chinese Han women.
23767878 Four BRCA2 mutations including three novel BRCA2 frameshift mutations and one previously known BRCA2 frameshift mutation and one BRCA1 splicing mutation were identified in a group of consecutive breast cancer patients.
23749772 BRCA1 functional rs799917 polymorphism is involved in susceptibility to developing ESCC, alone and in a gene-environment interaction manner.
23747895 BRCA1 can directly interact with the androgen receptor (AR) and Janus kinase (JAK), and can differentially regulate insulin-like growth factor 1 receptor (IGF-IR) expression in an AR-dependent manner
23740344 BRCA1 and BRCA2 mutations are associated with breast cancer.
23730208 BRCA1 expression is epigenetically repressed in sporadic ovarian cancer cells by overexpression of C-terminal binding protein 2.
23706288 Findings suggest treatment decisions and the clinical management for patients harbouring deleterious BRCA1/BRCA2 mutations.
23704984 Breast tumors from BRCA1 and BRCA2 mutation carriers display characteristic RNA expression patterns.
23704879 Rare variants of uncertain significance affecting phosphorylation may be a novel and important mechanism for which BRCA1 and BRCA2 functions are disrupted in breast cancer.
23697973 One common mutation c.798_799delTT was identified in the BRCA1 gene with a frequency of 5.12% [review]
23683081 We detected 28 distinct pathogenic mutations (16 in BRCA1 and 12 in BRCA2), of which 3 mutations in BRCA1 and 5 in BRCA2 had not been previously described.
23680151 BRCA1 is recruited to DNA damage sites using a PAR-dependent mechanism.
23674270 study concluded that although genetic variation in BRCA1 may be associated with etiology of hereditary breast cancer, BRCA1 genetic variation by itself may also play a role in etiology of sporadic breast cancer in the context of some breast cancer risk factors and for triple negative breast cancers
23670255 BRCA1 protein associates to GADD153 promoter after DNA damage in the presence of p53.
23666596 the existence of a previously unreported non-canonical nuclear localization signal contained within the first 39 amino acids of exon 11 of BRCA1 protein, is reported.
23666017 BRCA1 and BRCA2 mutations are associated with response to therapy in high-grade serous ovarian cancer
23665934 Level of ROS is correlated with increase of DNA damage in BRCA1 defective cells and several environmental factors might increase the risk of tumorigenesis in BRCA1 defective breast epithelial cells.
23658460 We show a high prevalence of BRCA1/2 mutations with LOH in an Ashkenazi Jewish cohort of surgically resected PDAC and neoplastic lesions, suggesting that these germline mutations are causal in selected individuals.
23657760 BRCA1 promoter polymorphism rs11655505 is associated with the risk of familial breast and/or ovarian cancer.
23640417 Genomic rearrangements at the BRCA1 locus account for a subset of breast cancer cases in an Iranian cohort.
23633455 The results show that BRCA1-mutant tumors are associated with a specific molecular subtype of high-grade serous carcinoma and have a distinct gene expression signature, which is heavily influenced by specific amplification events at 8q24 and on the X chromosome.
23624935 BRCA1 is a key negative modulator of PRC2 and that loss of BRCA1 inhibits embryonic stem (ES) cell differentiation and enhances an aggressive breast cancer phenotype by affecting PRC2 function.
23624750 Authors indicate that this report is the first of a family with some members clinically affected by neurofibromatosis type 1 and breast cancer, being carriers of both BRCA1 and NF1 mutations.
23615136 All patients with BRCA1 and BRCA2 risk factors need large genomic rearrangement screening for breast cancer.
23614934 In patients with breast cancer neoplasm grade and expression of BRCA1, Lys27H3, vimentin, and KI67 can be used to predict BRCA1 germline mutations.
23613828 variants Y1703S, W1718L and G1770V can be classified as likely pathogenic BRCA1 mutations.
23585894 Heterogeneous nuclear ribonucleoprotein C is a key regulator of BRCA gene expression and homologous recombination-based DNA repair.
23569316 BRCA1/2 germ-line mutations confer a more aggressive prostate cancer phenotype with a higher probability of nodal involvement, distant metastasis and poor survival.
23567481 Tumor size estimation using breast MRI in high risk patients is comparable to its performance in sporadic cancers.
23562522 The risk of endometrial cancer is higher in BRCA1 mutation carriers than in the general population.
23553196 Positive expression of BRCA1 protein was found in ovarian tissue in 83.3 % cases in BRCA1 mutation carriers and in 72.7 % in the control group.
23548269 Data indicate that interruption of ATR signaling strikingly further sensitized BRCA1- and BRCA2-deficient ovarian cancer cells to PARP inhibition.
23544013 Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk
23532817 BRCA1 has a predictive role in gastric cancer diagnosis.
23531862 6 (BRCA1) and 8 (BRCA2) microsatellite markers in a multiplex PCR.
23528734 Our data confirm the previously reported highly skewed distribution of FMR1 genotypes and sub-genotypes toward a high preponderance of low FMR1 alleles in BRCA1/2 carriers.
23504064 BRCA1 gene mutation is associated with breast and ovarian cancers.
23496813 ERCC1 and BRCA1 mRNA expression levels correlate inversely to CRC metastasis. ERCC1 and BRCA1 might serve as biomarkers for lymphatic metastasis and as prognostic indicators for CRC; their down-expressions are predictors of poor outcome in CRC patients
23490645 Results show that age of onset in carriers of BRCA mutations is earlier than expected. Especially for BRCA1
23486525 RIF1 not only acts downstream of 53BP1 and counteracts BRCA1-mediated end resection but also has a secondary role in promoting BLM function in DNA repair.
23483928 Genotypes of AIB1 polyglutamine polymorphism analyzed do not appear to be associated to a modified risk of breast cancer development in BRCA1 and BRCA2 mutation carriers.
23479189 Recurrent BRCA1 gene mutation is associated with breast and ovarian cancers.
23469566 Sporadic tumors with deranged BRCA1 protein expression like familial tumors have more unfavorable histopathology and are likely to be of higher grade and estrogen receptor negative.
23469205 Germline BRCA1 and BRCA2 mutations were detected in 13% and 7% of the early-onset breast cancer Brazilian patients.
23462720 High BRCA1 expression is associated with treatment response in ovarian cancer.
23458327 The study identified one of seven founder mutations in BRCA1 and BRCA2 in 27% of breast cancer patients in the Bahamas.
23451180 Eleven variants in BRCA1 and 8 in BRCA2, including 8 not previously characterized at transcript level, were ascertained to affect mRNA splicing
23447579 TNRC9 and BRCA1 expression are inversely correlated in breast cancer. TNRC9 binds to CREB and BRCA1 promoter and downregulates BRCA1 promoter activity.
23438604 BRG1 enhances senescence induced by BRCA1 knockdown.
23435429 Study identifies a novel BRCA1-p50 complex, and demonstrates for the first time that NF-kappaB is required for BRCA1-mediated resistance to DNA damage.
23420552 present the proof of principle of a NGS-based mutation screening procedure allowing the detection of inherited Alu insertions within any predefined sequence by investigating 2 cases: c.1739_1740insAlu in BRCA1 and c.156_157insAlu in BRCA2
23416467 overexpression of BRCA1Delta17-19 impairs homologous recombination repair, delays repair of ionizing radiation-induced DNA damage and dynamics of the ionizing radiation-induced foci formation, and undermines also the non-homologous end joining repair.
23415752 This study characterises the mutation, expression and methylation status of BRCA1/2 in 41 ovarian cancer cell lines.
23415688 These data collectively highlight a previously unrecognized role of BRCA1 as a gatekeeper of inflammation-induced endothelial cell function and a target to limit atherosclerosis.
23414920 The mean age at menopause in BRCA1-positive women is 45.5 years compared with 48.2 years among women who do not carry a mutation.
23411475 The idea that BRCA1/2 mutations have antagonistic pleiotropic effects (enhancing fertility while reducing survival) was supported in the natural fertility study.
23409121 BRCA1 and BRCA2 germline mutation-related DCIS show a high frequency of overexpression of HIF-1alpha.
23409019 findings support the hypothesis that the majority of non-BRCA1/BRCA2 breast cancer families might be explained by the action of moderate and/or low penetrance susceptibility alleles
23408054 Impairment of BRCA1-related DNA double-strand break repair leads to ovarian aging in mice and humans.
23407556 High BRCA1 mRNA levels were associated with response to erlotinib in non-small-cell lung cancer.
23406733 BRCA1-methylated breast neoplasms are sensitive to adjuvant chemotherapy and have a favorable survival compared to BRCA1-unmethylated tumors.
23405268 Methylation of BRCA1 promoter region is associated with early-stage breast cancer.
23377543 acetylation regulates relative BRCA1 and 53BP1 DNA double strand breaks chromatin occupancy to direct DNA repair mechanism
23375855 The frequencies of four mutations in the BRCA1 gene (185delAG, T300G, 4153delA, and 5382insC) were estimated in the Russian population.
23370825 data indicate that BRCA1 carriers diagnosed with MBC have worse outcomes compared to BRCA2 carriers and non-carriers. However, the differences in outcome did not reach statistical significance likely due to small sample sizes
23364291 review summarizes the recent findings on the epidemiology of BRCA1/2 mutations among ovarian carcinoma patients in various geographical areas with special reference to racial/ethnic groups and the common founder mutations
23353771 Nrf2 has a role in regulating the basal transcription activity of the BRCA1 gene
23350388 LOH at the locus of BRCA1 was explained in relation to clinicopathological factors and prognosis of breast cancer.
23344954 BRCA1-Ku80 protein interaction enhances end-joining fidelity of chromosomal double-strand breaks in the G1 phase of the cell cycle
23339184 a microenvironmental change that is manifested during the initial stages of ovarian carcinoma dissemination may, potentially, help suppress BRCA1 expression in sporadic tumors and thus promote their progression.
23337117 BRCA1 loss activates cathepsin L (CTSL)-mediated degradation of 53BP1.
23336376 The expression of BRCA1 is related to the occurrence and development of esophageal carcinoma.
23335114 Methylation of breast cancer susceptibility gene 1 (BRCA1) predicts recurrence in patients with curatively resected stage I non-small cell lung cancer.
23333306 RIF1 accumulation at DSB sites is strongly antagonized by BRCA1 and its interacting partner CtIP
23326384 Data indicate an increase of VEGF, HIF-1alpha expression and microvessel density (MVD) in BRCA1-2 carriers and BRCAX compared to the sporadic control group.
23326344 Data suggest that BRCA1 mRNA expression could be used as a predictive and prognostic marker in esophageal cancer who underwent first-line cisplatin- or docetaxel-based treatments.
23320992 in a sample of Black women with early onset breast cancer, study evaluated BRCA mutations; BRCA mutation prevalence and the high prevalence of variants of uncertain significance in participants are consistent with prior studies
23317271 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations are associated with breast cancer.
23313170 polymorphisms within XRCC1 and BRCA1 were associated with radiation sensitivity of the lungs.
23303449 CtBP1 is expressed in melanoma and represses the transcription of p16INK4a and Brca1.
23292835 The positive correlation between BRCA1 expression and overall survival suggests that patients with BRCA1 expression have a better prognosis in gastric cancer
23289006 Our BRCA1 patients carrying c.5095C>T mutation had a strong family history of breast and/or ovarian cancers.
23285190 CBP and p300 histone acetyltransferases contribute to homologous recombination by transcriptionally activating the BRCA1 and RAD51 genes.
23278966 The BRCA1 c.5194-12G>A variant was detected in two sisters, one of whom has been diagnosed with bilateral breast cancer at 47 and 57 years of age and the other sister diagnosed at 42 years of age.
23276146 The ectopic expression of BRCA1 is associated with the genesis, progression, and prognosis of young breast cancer patients.
23265709 Data indicate that younger patients with BRCA1 and BRCA2 (BRCA1/2)-mutated ovarian cancers (BMOC) (<53 years) appeared to have a poorer progression-free-survival compared with patients with BMOC who were older at the point of commencing paclitaxel.
23263908 the decreased expression of BRCA1 gene suggests the possible role of methylation in gene silencing.
23262210 Older age, absence of a strong family history, and poor survival are all associated with decreased clinical identification of inherited BRCA1/2 mutations in women with ovarian cancer.
23257159 for women with invasive ovarian cancer, the short-term survival advantage of carrying a BRCA1 or BRCA2 mutation does not lead to a long-term survival benefit
23249957 Results indicate that this workflow performed analysis of BRCA1 and BRCA2 genes point mutations with a specificity of 100% and a sensitivity >/=97.5%.
23246971 BRCA1 targets G2/M cell cycle proteins for ubiquitination and proteasomal degradation.
23239986 we investigated 30 unclassified BRCA1 variants with putative effects on splicing, 25 of which were experimentally proven spliceogenic in peripheral blood leukocytes (PBL).
23233716 in a study of US Hispanics, deleterious BRCA mutations were detected in 189 of 746 clinic patients(124 BRCA1, 65 BRCA2); a significant proportion were large rearrangement mutations; first Mexican founder mutation (BRCA1 ex9-12del)was documented
23232912 BRCA1 5382insC mutation is associated with familial breast cancer.
23232854 BRCA1 immunohistochemistry appears to be an effective approach to stratify patients for germline genetic testing and to detect other mechanisms of BRCA1 dysfunction in high-grade serous ovarian carcinomas.
23232696 Data indicate that the median levels of Ang-1, Ang-2 and VEGF mRNA were significantly higher in patients harboring BRCA1/2 germline mutations.
23231788 Classified 88 missense VUS in BRCA1 and BRCA2 on the basis of an in silico analysis and compared the classification of a subset of 60 VUS of which additional information including family, genetic and tumour data was available.
23221734 A low level of BRCA1 protein expression is a favorable prognostic indicator in uterine serous carcinoma, similar to what is observed in high-grade serous ovarian carcinoma.
23211528 connect ubiquitin- and SUMO-dependent DSB recognition, revealing that RNF4-synthesized hybrid SUMO-ubiquitin chains are recognized by RAP80 to promote BRCA1 recruitment and DNA repair.
23192404 The prevalence and nature of germline mutations in the BRCA1 gene in a cohort of triple negative breast cancer patients.
23184082 Combined SEER database and retrospective study data analysis of lifetime risk of developing ductal carcinoma in situ and BRCA1 and BRCA2 carrier status.
23175448 Suggest that recurrent BRCA1 mutations may exist in eastern Chinese women with familial breast cancer and PCR-sequencing assay is a useful tool to screen these mutations.
23172369 Loss of BRCA1 function leads to hydrogen peroxide generation in both epithelial breast cancer cells and neighboring stromal fibroblasts, and promotes the onset of a reactive glycolytic stroma, with increased MCT4 and decreased Cav-1 expression.
23155271 We assessed the relation of mRNA levels of ERCC1, RRM1, and BRCA1 to survival in surgically-resected tumor tissues from patients who underwent adjuvant chemotherapy
23146957 Our findings do not support the usefulness of X chromosome inactivation analysis for the identification of BRCA mutation carriers and cancer risk assessment.
23117300 this study sustain that the deletion of exons 3-5 of BRCA1, g.8097_22733del14637, identified in families of southeastern of the Valencian Community is the first founder rearrangement until now reported in Spanish population, confirming the hypothesis that this mutation could have Iberian ancestry.
23110154 Data show a substantial proportion of germ-line mutations in triple-negative breast cancer (TNBC), with a preponderance of BRCA1 mutations over mutations in BRCA2 or PALB2, but no evidence to implicate BRD7 mutations in the etiology of TNBC.
23108140 NO/RNS stimulates genetic instability by inhibiting BRCA1 expression and shifting DNA repair from high fidelity to error-prone mechanisms.
23096105 found BRCA1/2 mutations in 15/103 probands. Among these, a BRCA2 gene mutation has not been described previously. In addition, we identified five novel BRCA2 variants
23086937 FBXO44 mediates BRCA1 ubiquitination and degradation
23082475 Sixty-two patients (index cases) with invasive breast cancer belonging to sixty families and their asymptomatic female first-degree relatives (300 cases) were studied for germline mutations of BRCA1 and BRCA2 genes.
23069641 BRCA1 hypermethylation-associated silencing predicts enhanced sensitivity to platinum-derived drugs to the same extent as BRCA1 mutations
23066998 The risk of breast cancer was modestly higher in women with a paternal BRCA1 mutation compared to women with a maternal BRCA1 mutation.
23057551 review of progress in understanding of BRCA1 and BRCA2 mutations in ovarian cancers and how these findings affect therapeutics; differing prognostic effects of BRCA2 and BRCA1 mutations is likely due to differing roles of BRCA1 and BRCA2 in homologous recombination repair and stronger association between the BRCA2 mutation and hypermutator phenotype
23055523 RNF168 is important for defects in homologous recombination caused by loss of the BRCA1 in breast cancer cells.
23050611 In BRCA1 mutation carriers no association was found between overall breast cancer risk SNP score and age at breast cancer onset.
23047606 BRCA1-null mutations and loss of expression drives hydrogen peroxide generation, accompanied by metabolic coupling and stromal glycolysis, as well as high autophagy and a loss of Cav-1 in the tumor stroma.
23047605 BRCA1 deficiency in the tumor stroma metabolically promotes cancer progression, via ketone production.
23039163 Results indicate that the MDM2 SNP309G allele to increase and the SNP285C allele to reduce the risk of BRCA1 related ovarian cancer.
23038782 PALB2 localization depends on the presence of MDC1, RNF8, RAP80 and Abraxas upstream of BRCA1.
23011797 Findings establish unique functional links between canonical Wnt signaling, Slug expression, EMT, and BRCA1 regulation.
23011509 No association with ovarian cancer risk for BRCA1 or BRCA2 mutation carriers or with breast cancer risk for BRCA1 mutation carriers was observed
23006047 Data suggest that, compared to stage I/control, BRCA1 promoter methylation is up-regulated in stage II/III ovarian cancers; BRCA1 hypermethylation correlates with loss of BRCA1 expression; BRCA1 promoter in stage I tumors exhibits hypo-methylation.
22984553 BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes
22976806 These data suggest that elevated CA IX protein in TNBC is associated with a BRCA1 mutant signature and loss of BRCA1 function.
22972572 Evidence based on spontaneous chromosome abnormalities and epidemiologic data indicates strong effects from exogenous mutagens and does not support the inevitability of cancer in all BRCA1/2 mutation carriers.
22970155 BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Southern Chinese population.
22967960 BRCA1/2 mutation carriers exhibited no significant increase in proliferation in the fallopian tube epithelial cells either in the ampulla or fimbriated ends of the tube.
22962264 in human sporadic breast cancer cells with functional BRCA1 and proficient double-strand break repair, a transient nuclear depletion of BRCA1 and subsequent homologous recombination repair deficit was induced with either truncated BRCA1 or irradiation
22946335 Higher frequencies of these mutations in the patient group compared to the control sample (1.95 versus 0.25% for BRCA1 5382insC, and 1.78 versus 0.40% for CHEK2 1100delC) were observed, pointing to their association with susceptibility to breast cancer
22938492 increased ALDH1 is inversely correlated with decreased BRCA1 in a series of unselected breast carcinomas.
22931600 Decreased BRCA1 expression can enhance progesterone-stimulated tumor cell proliferation and migration in sporadic breast cancer.
22923021 Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.
22915752 In TNBC cells that PI3K inhibition leads to DNA damage, downregulation of BRCA1/2, gain in poly-ADP-ribosylation, and subsequent sensitization to PARP inhibition.
22915751 The combination of a PI3K inhibitor with a PARP inhibitor provides in vivo synergy for treatment of an endogenous mouse model for BRCA1-related breast cancers.
22901997 BRCA1 as a new predictive marker for chemotherapy and radiotherapy of non-small cell lung cancer
22889855 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) variant is associated with intermediate risk of breast and ovarian cancer.
22887716 Studied E2F3 and its two isoforms E2F3a and E2F3b in wild-type ovarian carcinomas and ovarian carcinomas associated with germline BRCA1 and BRCA2 mutations.
22869732 BRCA1 and HSP90 cooperate in homologous and non-homologous DNA double-strand-break repair and G2/M checkpoint activati
22865450 Data indicate that RNF8-dependent chromatin ubiquitination is required for RAD51 assembly in BRCA1/53BP1-depleted cells.
22864640 High frequency of BRCA1 founder mutations are associated with breast cancer.
22863316 findings identify claspin as an in vivo substrate for the BRCA1 E3 ligase and suggest that its modification selectively triggers CHK1 activation for the homology-directed repair of a subset of genotoxic lesions
22856468 Description of a large family showing co-segregation of the BRCA1 S1715N variant with breast and/or ovarian cancer.
22843497 We propose that analogous to germline genetic mutations constitutive epimutations in BRCA1 and RAD51C may serve as the first hit of tumor development.
22833046 BRCA1 is specifically associated with mother centrioles in unduplicated centrosomes, and daughter centrioles acquire BRCA1 prior to initiation of duplication, and thus duplicated centrosomes are both bound by BRCA1.
22832221 BRCA1 overexpression increases ATM transcription and this enhancement is abolished by BRCA1 depletion.
22814251 in the absence of DNA damage, the DSB repair factors RNF8 and BRCA1 are associated with the nucleolus
22811390 Germline BRCA1 mutations in uterine serous carcinoma (USC) is higher than expected in a nonfounder population, suggesting that USC is associated with hereditary breast and ovarian carcinoma.
22798144 characteristics of BRCA1/2 germline mutations in Korean patients with breast and ovarian cancer; 420 (150 distinct) pathogenic mutations were identified, 211(73 distinct)in BRCA1 and 209 (77 distinct)in BRCA2; majority of distinct mutations resulted in premature termination codon of the BRCA1/2 translation
22790858 identified 5 morphologic features associated with BRCA1 mutation status in a series of 20 ovarian cancers
22789542 show a repair-independent requirement for FA genes, including FANCD2, and BRCA1 in protecting stalled replication forks from degradation
22788243 Low doses of mammography X-rays have the potential to induce chromosomal instability in fibroblasts from BRCA mutation carriers.
22776961 Germline BRCA1 and BRCA2 mutations in ovarian (pelvic) cancer are associated with high-grade serous histology; genetic assessment of all women diagnosed with high-grade serous ovarian carcinoma will improve detection rates and capture mutation carriers.
22768030 A locus on chromosome 6q22.33 (rs2180341) was evaluated to see if it modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers.
22763381 We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews.
22753153 Identification and analysis of BRCA1 3'UTR variants in breast cancer reveals a novel mutation introducing a functional miR-103 binding site.
22752604 study examined BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity; findings indicate a high incidence of BRCA1/BRCA2 gene mutations in the Indian patients
22751483 Eidence suggests that RAS-induced suppression of DNA repair response via dissociation of BRCA1 from chromatin promotes senescence while predisposing cells to senescence bypass and transformation by allowing for secondary hits.
22744714 High BRCA1 methylation frequency was associated with drug response in breast cancer
22744338 studies suggest substantial mortality benefits in using MRI to screen BRCA1/2 mutation carriers aged 25 to 60 years
22743332 These data reveal that BRCA1 facilitates Chk1 phosphorylation and its partial chromatin dissociation following replication inhibition that is likely to be required for S-phase checkpoint signaling.
22739995 study genotyped recurrent BRCA1/BRCA2 mutations among Nigerian, African American, and Barbadian breast cancer patients
22739988 BRCA1 defectiveness keeps turning on IGF-1/PI3K/AKT signaling, which significantly contributes to increase cell survival and proliferation.
22736296 BRCA1 mutation is associated with breast and ovarian cancer.
22734169 Among the 1017 women referred for BRCA testing, 63 women younger than 52 years of age who had been diagnosed with breast cancer were found, subsequent to this diagnosis, to have BRCA1 or BRCA2 gene mutations.
22729394 IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers.
22710074 Invasive tubal carcinoma and TIC were limited to BRCA-mutation carriers, whereas hyperplasia and minor epithelial atypia were commonly found in both BRCA-mutation carriers and controls.
22706203 RB1 was identified as a major target for genomic disruption in tumors arising in BRCA1 mutation carriers and in sporadic tumors with BRCA1 promoter methylation but rarely in other breast cancers.
22691290 Screened DNA copy number changes in BRCA1 in 23 breast cancer patients. Detected in one patient a 36.4 Kb BRCA1 microdeletion.
22685544 Findings suggest a function for breast cancer susceptibility gene 1 (BRCA1) as a regulator of follistatin (FST) expression and function in ovarian cells.
22684231 8 new missense unclassified variants were identified in the BRCA1 and BRCA2 genes in Algerian breast/ovarian cancer families.
22682623 The first report identifying BRCA1 mutations in Puerto Rico.
22680617 Data suggest that if survival rates are based on tested patients, all of whom are alive at the time of testing, then the survival experience will be overestimated, both for women who test positive for BRCA1 or BRCA2 mutations and for non-carriers.
22673632 Article presents a comprehensive review of the relevant literature on the role of BRCAness in ovarian cancer with respect to BRCA function.
22666314 BrCa1 might help to control fatty acid biosynthesis in adipocytes and adipose tissue from obese subjects
22655046 In patients diagnosed with breast and ovarian cancer the study found 4 novel deleterious mutations (c.2805_2808delAGAT and c.3124_3133delAGCAATATTA in BRCA1; c.2639_2640delTG and c.5114_5117delTAAA in BRCA2).
22652532 It is concluded that a proportion of patients with therapy related myeloid neoplasms carry cancer susceptibility mutations,including BRCA1 mutations, which is likely to contribute to therapy related leukaemogenesis.
22646717 the BRCA1 variants M1775R and A1789T affect the expression of many genes critical for cell proliferation and genome integrity maintenance.
22635027 High BRCA1 expression is associated witth high insulin-like growth factor I receptor gene expression and uterine serous carcinoma.
22628410 This paper describes the analysis of BRCA1, PTEN, and p53 at the single cell level in 55 BRCA1-associated breast tumors and computational methods to predict the relative temporal order of somatic events
22615956 Using a hybrid minigene approach, we have experimentally validated the hypothesis that the need to maintain correct alternative splicing is a selective pressure against translationally silent sequence variations in the critical region of BRCA1 exon 11
22614657 in patients with triple-negative breast cancer, BRCA1 mutation prevalence was lower, and BRCA2 mutation prevalence was higher, than previously described
22613997 Estrogen receptor positive (ER+)BRCA1-related breast cancers show several morphologic and immunophenotypic differences from ER+ sporadic breast cancers.
22591913 Patients with breast cancer and estrogen receptor-negative phenotype and high mitotic rate could be triaged specifically for BRCA1 testing.
22586318 PARP inhibitors may represent a new and promising targeted therapy for patients with BRCA1/2 -associated cancer.
22579790 For breast cancer, BRCA mutation status is not associated with the rate of optimal tumor debulking at primary surgery after accounting for differences in patient age.
22576580 Studies sugggest a role of diet, specifically iron and antimony, in the etiology of BRCA1-associated breast cancer.
22569005 The aim is to determine whether DNA-direct is an acceptable procedure for BRCA1/2 testing, in order to provide customized care to patients with breast cancer
22553214 Data suggest that the BRCA1-associated IRIF core corresponds to chromatin regions associated with repair by homologous recombination, and the enrichment of BRCA1 in IRIF represents a temporal switch in the DNA repair program.
22538771 Id4 overexpression plays a role in the downregulation of BRCA1 in sporadic triple-negative breast carcinomas of patients without BRCA1 germline mutation, and provide new insight into the biology of these tumors
22535016 Caucasian female with double heterozygosity for disease-causing BRCA1 and BRCA2 mutations carriers seem to develop breast cancer at a younger age and have a more severe disease than carriers of a single BRCA mutation.
22516946 increased risk of Prostate cancer (PrCa) in men who harbour germline mutations in BRCA1.
22511931 BRCA1-IRIS overexpression triggers aggressive breast tumor formation, especially in patients with HER2(+) or TN/BL subtypes.
22503699 results suggest that polymorphic BRCA1, particularly T43893C polymorphism, may protect against salivary gland carcinoma
22492723 BRCA1 regulates miRNA biogenesis via the DROSHA microprocessor complex and Smad3/p53/DHX9.
22488590 The PI3K/AKT pathway can be an important signaling pathway for the survival of BRCA1-defective breast cancer cells.
22476849 No new rearrangements were found in the BRCA1 gene in 472 patients with breast cancer predisposition.
22469508 The high frequency of loss of heterozygosity at the BRCA1 locus suggests that loss of heterozygosity may be an important mechanism of BRCA1 deficiency in ovarian carcinomas.
22443199 Several common alleles have been found to modify breast or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. These common alleles explain a small proportion of the genetic variability in breast or ovarian cancer risk for mutation carriers.
22431556 BRCA1/p220 loss of expression or function triggers BRCA1-IRIS overexpression through a post-transcriptional mechanism, which in turn promotes formation of aggressive and invasive breast tumors.
22429596 Age and grade differed significantly between BRCA1 and BRCA2 carriers in our study population.
22426855 The role of BRCA1 in breast cell differentiation and lineage determination: towards a better understanding of the role of mutated BRCA1 in breast cancer. [Review]
22425665 Data suggest that BRCA1 and BRCA2 mutations are responsible for a significant proportion of familial breast cancer in Moroccan patients.
22425664 PWC has the potential to detect occult peritoneal carcinoma in patients with BRCA1 or BRCA2 mutations.
22420687 analysis of dynamics, retention, copy number and distribution of BRCA1-associated proteins at individual ionizing radiation-induced foci
22406760 BRCA1 and BRCA2 mutations occurred more frequently in platinum-sensitive EOC than platinum-resistant disease.
22402307 BRCA1 promoter methylation in PBCs increased significantly in breast cancer patients compared with controls, for age over 70 years (p=0.022), in post-menopausal status (p=0.013), for a body mass index <20 (p=0.0095) or a waist-to-hip ratio 76.8
22401979 The penetrance of the mutation and the aggressiveness of the related tumor could depend on a dosage effect of the mutated allele transcript.
22401965 The BRCA1/Chk1/p53 pathway mediated the upregulation of p21(Cip1/Waf1). We also demonstrated that the NO-mediated up-regulation of p21(Cip1/Waf1) was inversely correlated with the activation status of the p38MAPK pathway.
22399190 The rate of some seemingly recurring germline mutations (981delAT, A1708E, and 4153delA)in the BRCA1 gene in breast/ovarian high risk Israeli women of diverse ethnic origin were determined.
22396490 Authors searched for gene expression patterns that correlate with docetaxel or cisplatin response in a mouse model for breast cancer associated with BRCA1 deficiency.
22392482 PARP inhibiton cytotoxicity in BRCA1-deficient tumor cells is enhanced >10-fold when combined with interferon-gamma.
22382806 BRCA1 mutations for non-familial Korean breast cancer patients were detected at a high rate, particularly, in patients with early onset of less than 35 years of age, bilateral breast cancer, and breast and ovarian cancer.
22366370 New pathogenic mutation in BRCA1 gene identified in women in Croatia.
22362584 BRCA1 pathogenic germline mutations coupled with somatic loss of the wild-type allele are not sufficient for hereditary breast cancers to display an ER-negative phenotype.
22339411 Treatment with 18.5 muM Genistein or 78.5 muM Daidzein might reverse DNA hypermethylation and restore the expression of the oncosuppressor genes BRCA1 and BRCA2.
22333603 Women with triple negative breast cancer diagnosed below 50 years have more than 10 percent likelihood of carrying a BRCA1 mutation
22311183 Independently of breast cancer generation, BRCA1-encoded gene alterations are associated with changes in the expression of circulating proteins associated with thrombosis and coagulation.
22282309 BRCA1 and BRCA2 mutations correlate with TP53 abnormalities and presence of immune cell infiltrates in ovarian high-grade serous carcinoma.
22277901 there is a high prevalence of germ-line BRCA1 mutations in high-risk Taiwanese patients as in Caucasians.
22274685 Among patients with invasive epithelial ovarian cancer, having a germline mutation in BRCA1 or BRCA2 was associated with improved 5-year overall survival. BRCA2 carriers had the best prognosis.
22262859 The C-terminal proteolytic fragment of the breast cancer susceptibility type 1 protein (BRCA1) is degraded by the N-end rule pathway.
22262852 CRM1, BARD1 and Aurora A promote the targeting and function of BRCA1 at centrosomes.
22262156 The results from this study suggest that height, weight, or weight gain do not influence the risk of ovarian cancer among carriers of a BRCA1 or BRCA2 mutation.
22253870 The expression of DNA repair proteins, including PARP, FANCD2, BRCA1, PTEN, H2AX, ATM, as well as p53, was studied to see if it correlated with response to treatment, recurrence rate, and survival in ovarian cancer.
22252577 Studies across multiple ethnicities demonstrate that BRCA1 and BRCA2 mutations not only increase the risk of prostate cancer, but also predispose patients to early onset of potentially lethal disease. (Review)
22252303 Overweight BRCA mutation carrier women seem to be at risk of developing more cortical invaginations than women of normal weight.
22245140 Endogenously expressed BRCA1 alternative splicing variants may negatively influence genome stability and support the growing evidence of the pathological potential of the sequence variants generated by an altered or misregulated alternative splicing.
22212556 functional KL gene variants had no discernable effect on either breast or ovarian cancer risk in a large group of ethnically diverse BRCA1 and BRCA2 mutation carriers.
22197621 Resveratrol prevents Tetrachlorodibenzodioxin-dependent reduction of BRCA-1 expression in MCF-7 cells.
22193042 Indicate potential strong associations between morphology and BRCA1/2 genotype in high-grade serous carcinomas.
22190288 Data suggest that BRCA1 plays a critical role in mediating apoptosis by vinorelbine in mesothelioma.
22186889 BRCA1 is a novel and essential adaptive response molecule shielding cardiomyocytes from DNA damage, apoptosis and heart dysfunction.
22179631 Loss of heterozygosity at BRCA1 locus could be an independent prognostic biomarker useful in identifying a subgroup of breast cancer patients with poor prognosis.
22172724 BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance
22170030 The results suggest that BRCA1 protects DNA from mutagenesis during nonhomologous DSB repair in plasmid-based assays.
22167321 BRCA1 had a profound effect of the gene expression profile in breast cancer cells includungregulation of TRAF2 expression.
22144499 Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis.
22143498 Promoter hypermethylation patterns of of BRCA1 germ line mutation carriers are associated with fallopian tube neoplasms.
22137763 Downregulation of BRIP1, a physiological partner of BRCA1 in the DNA repair pathway, triggers BRCA1 chromatin dissociation.
22136207 A1988G heterozygous AG genotype was associated with reduced differentiated thyroid cancer risk. AATAATA and ATAA haplotypes that carry C33420T variant allele were associated with reduced papillary thyroid cancer risk.
22120723 the BRCA1-GATA3 interaction is important for the repression of genes associated with triple-negative and basal-like breast cancer (BLBCs) including FOXC1
22116506 5 out of 144 sporadic breast cancer cases carried a BRCA1 somatic mutation, including two novel nonsense mutations (c.191_212del22 and c.2963C>G) and three missense mutations (c.114G>T, c.925A>C, and c.824G>A).
22113258 The rate of phenocopy breast cancer in non-carriers from Israeli BRCA1 BRCA2 mutation carrier families is 2.26% with no increased breast cancer risk over the average-risk population.
22110403 study depicts a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer
22103901 Patients with hypermethylation in BRCA1 displayed favorable clinical status. Their tumors were smaller in size, lacked p53 gene mutations, were of lobular type, and had better overall survival.
22093627 FISH-positive EGFR expression is associated with gender and smoking status, but not correlated with the expression of ERCC1 and BRCA1 proteins in non-small cell lung cancer.
22083523 Decrease in expression during neoadjuvant chemotherapy were more frequently observed for MGMT as compared to MLH1, MSH2 or BRCA1.
22076508 results suggest that there might be different BRCA1 promoter methylation levels and patterns in sporadic and hereditary breast cancer in peripheral blood DNA
22072393 report of four interactions between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2
22053997 The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status.
22044689 BRCA1 founder mutations are common in Colombian women with ovarian cancer.
22044372 An Asn372His homozygous variation was noted in the BRCA2 gene in the patient with medulloblastoma whereas the variation was heterozygous in the healthy father
22034289 BRCA1 mutations are associated with unselected Nigerian breast cancer patients.
22032289 Since BRCA1 and BACH1 mutations targeting the BRCA1-BACH1 interaction have been associated with breast cancer susceptibility, the results of the present study thus provide evidence for a novel role of BACH1 in tumour suppression.
22032251 This data suggested that the carriers of the c.4034delA and c.5266dupC founder mutations have different risks of breast and ovarian cancer development, different age of onset and prognosis of breast cancer.
22024613 Data show no significant difference in the extent of CIN in BRCA1-mutated versus sporadic tumors.
22010008 among BRCA1 mutation carriers, as among noncarriers, there are unique characteristics associated with the triple-negative subtype.
22009639 Women who had ductal carcinoma in situ and a family history of ovarian cancer or who had BRCAPRO scores >/=10% had a high rate of BRCA positivity regardless of age at diagnosis.
21993507 women who are carriers of BRCA1/2 mutations living in natural fertility conditions have excess fertility as well as excess post-reproductive mortality in relation to controls
21990299 among women with high-grade serous ovarian cancer, BRCA2 mutation, but not BRCA1 deficiency, was associated with improved survival, improved chemotherapy response, and genome instability compared with BRCA wild-type
21989927 Germline mutations in the BRCA1 gene is associated with pancreatic cancer.
21987798 Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells.
21984204 This study suggests that prior appendectomy is more frequently noted in BRCA1 carriers with breast and ovarian cancer than in unaffected mutation carriers.
21978880 Our results suggest an important role of BRCA1 and BRCA2 promoter methylation in breast cancer development in the Tunisian population.
21963239 BRCA1 is required for postreplication repair after UV-induced DNA damage.
21951856 overexpression of Cdk1 or BRCA1 greatly expands the gamma-tubulin coating of microtubules, suggesting that the microtubule-bound gamma-tubulin is involved in DNA damage response.
21950761 the BRCA1/BARD1 ubiquitin ligase complex was found to enhance SAFB protein expression and induce Tel2 nuclear translocation
21947588 The probability of nipple involvement by premalignant or malignant lesions in the nipple-areolar complex of BRCA mutation carriers is low at time of prophylactic mastectomy, but higher (10%) in women undergoing therapeutic mastectomy.
21946536 Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155.
21945552 Women with BRCA-associated ovarian tumors demonstrate a greater sensitivity to cytotoxic therapy with Doxil.
21934105 Fifteen patients, five male, with a BRCA1 or BRCA2 mutation and PAC and one patient with a BRCA1 mutation and acinar cell carcinoma of the pancreas were identified.
21920589 Absent/low BRCA1 protein expression is a favourable prognostic marker in ovarian cancer.
21919919 Exposure of HeLa-ADH1B cells to ethanol results in a significant increase in acetaldehyde-DNA adducts and the activation of BRCA1 and FANCD2.
21918854 Germline mutations in the BRCA1 gene is associated with Iranian breast cancer patients.
21918853 Mutations in the BRCA1 gene is associated low with sporadic breast cancer of Spanish population.
21914189 both 53BP1 and SRC3 have a common function that converge at the BRCA1 promoter and possibly other genes important for DNA repair and genomic stability
21901007 proposal that the role of BRCA1 in maintaining global heterochromatin integrity accounts for many of its tumour suppressor functions
21898151 Mutations in the BRCA1 gene is associated with osteopenia and osteoporosis after risk-reducing salpingo-oophorectomy in breast cancer patients.
21897273 Epithelial ovarian cancers with negative BRCA1 protein expression were identified in younger patients, showed a significantly better overall survival, prolonged treatment intervals and a tendency for an extended progression free time interval.
21890493 Polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations.
21887486 The differential pattern of global gene expression due to stable expression of BRCA1 in ovarian cancer cells.
21875488 The level of BRCA1 mRNA was negatively correlated with cisplatin chemosensitivity in patients with metastatic malignant effusions.
21869484 Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family
21849032 ATM and BRCA1 quantity plays an important role in determination of the fate of cells exposed to ionizing radiation and double heterozygosity increases the risk of tumorigen
21799032 these data suggest that genomic variation at multiple loci that encode proteins that interact biologically with BRCA1 are associated with modified breast cancer and ovarian cancer risk in women who carry BRCA1 mutations.
21792894 BRCA1 controls a physiological arrest at the M phase apart from its established role in DNA damage response.
21781528 The expression level of BRCA1 and class IIIbeta-tubulin in tumor tissue is probably a predictor for the efficacy of chemotherapy in non-small cell lung cancer patients.
21769658 Abnormal splicing patterns expected to lead to non-functional proteins were observed for 7 BRCA1 and BRCA2 variants in a cohort of patient screening for hereditary breast and ovarian cancer.
21765473 Data indicate that the c-Kit signalling network has potential as a target for therapy and/or prevention in BRCA1-associated breast cancer.
21761160 Our results confirm the existence of a central low BC risk region in BRCA1 (LR1) and one in BRCA2 (LR2).
21756275 BRCA1 is involved in transcription-coupled repair and a BRCA1-dependent polyubiquitination pathway for Cockayne syndrome B protein exists alongside the CSA-dependent pathway to yield more efficient excision repair of lesions on the transcribed DNA strand.
21742769 propose that targeting nuclear BRCA1 to the cytoplasm may offer a unique strategy to sensitize p53-deficient sporadic breast cancers to DNA damage-based therapy
21735045 12 novel BRCA1 and BRCA2 mutations, leading to aberrantly expressed transcripts, were identified in a cohort of hereditary breast and ovarian cancer syndrome patients.
21729660 BRCA1 2634delC mutation is associated with Wilms' tumor.
21725363 Data show the function of BRCA1 missense mutations in the control of centrosome duplication, and indicate a new function of BRCA1 in the control of centriole pairing.
21708937 Associations were found between risk of breast cancer and linkage disequilibrium blocks in IGF2 for BRCA1 and BRCA2 mutation carriers, HTRA1 for BRCA1 carriers, and MMP3 for BRCA2 carriers.
21708019 1 BRCA1 haplotype & in a polygenic model, the E1038G & Q356R BRCA1 SNPs were significantly associated with the mean number of breaks per irradiated lymphoblast in a DNA repair assay.
21700680 These findings define a novel transcriptional pathway through which BRCA1 orchestrates cell fate decisions in response to genotoxic insults.
21691706 BRCA1 mutation was not shown to be an independent prognostic factor for breast cancer and its expression was not associated with breast cancer-specific survival in the triple-negative breast cancers.
21681822 although genetic loss of Brca1 and E-cadherin are infrequent in breast cancer, they are down-regulated at the transcriptional level by CtBP1 expression.
21673012 KIAA0101 is a potential BRCA1 interactor.
21670699 Risk-reducing salpingo-oophorectomy (RRSO) in BRCA mutation carriers.
21670155 hypoxia is a driving force for long-term silencing of BRCA1, thereby promoting genome instability and tumor progression.
21668996 In the distal BRCA1 promoter, DNA sequence analysis revealed two tandem clusters with high similarity, and each cluster contained a possible c-Myc binding site. c-Myc bound to these regions in vivo.
21666725 YY1 is a key regulator of BRCA1 expression and may be causally linked to the molecular etiology of human breast cancer.
21666281 Data suggest that certain BRCA1 mutations that cause hyper-recombination instead of reduced DSB repair might lead to breast cancer.
21653198 prevalence of BRCA2 mutations in triple negative breast cancer
21649643 evaluation of prevalence of de novo mutations in BRCA1 and BRCA2 in a clinic-based cohort of women seeking risk assessment; results suggest de novo mutations in BRCA1 and BRCA2 are less common than in other hereditary cancer syndromes
21643751 evaluation of frequency and distribution of common BRCA1 and BRCA2 mutations which associated with breast cancer risk (Meta-Analysis)
21614564 Spectrum and characteristics of BRCA1/2 mutations in Chinese familial breast cancer exhibit some unique features, and Chinese women with familial breast cancer whose tumors are diagnosed at or before the age of 40 are good candidates for BRCA1/2 testing.
21607289 Data suggest the therapeutic use of cordycepin for the treatment of BRCA1-deficient breast cancers by inhibiting poly(ADP-ribose) polymerase.
21604195 BRCA1 and BRCA2 mutations are associated with breast and ovarian cancer.
21603983 BRCA1 and BRCA2 mutations are associated with breast and ovarian cancer.
21603858 The Tunisian population has a spectrum of prevalent BRCA1 mutations, some of which appear as recurrent and founding mutations, as is the c.798_799delTT mutation.
21598251 Common genetic variants in the AURKA and BRCA1 genes may contribute to breast cancer development.
21598239 BRCA1 and BRCA2 mutations are observed with nearly equal distribution in Ashkenazi Jewish breast-pancreas cancer families, suggesting that both genes are associated with pancreatic cancer risk
21597964 More than 50% of the Ashkenazi Jewish chromosomes with the BRCA1 185delAG mutation share an identical 2.1 Mb haplotype and nearly 16% of Ashkenazi Jewish chromosomes carrying the BRCA2 6174delT mutation share a 1.4 Mb haplotype.
21593597 these findings are consistent with a causative link between defects in the BRCA1 gene by CpG island hypermethylation and the development of TNBCs characterized by RB/p16 dysfunction in sporadic cases of the disease.
21593217 Single nucleotide polymorphisms in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2, were genotyped.
21591024 A lack of association of the rs2910164:G>C single nucleotide polymorphism with breast cancer risk in a series of 1,166 BRCA1 and 560 BRCA2 mutation carriers, is reported.
21572332 Epigenetic silencing of BRCA1 is uncommon and is associated with the triple-negative phenotype in women of north India.
21570976 Studies indicate that missense mutations within RING finger domain of BRCA1, which causes familial breast cancer, abolished the E3 activity.
21557934 The BRCA1 methylation is significantly decreased in ovarian cancer by comparison with the control group.
21553119 A novel BRCA1 c.3494_3495delTT mutation was identified in a patient diagnosed with breast and ovarian cancer at the age of 52 and 53, respectively.
21537840 These results suggest the possible implication of BRCA1 promoter methylation in the early onset of breast cancer
21520273 hierarchical statistical modeling of data observed in a case-control study of contralateral breast cancer in which all the participants were genotyped for variants in BRCA1 and BRCA2
21520156 Our conclusive trial demonstrates the lack of association between Galician splicing mutation c.211A>G in the BRCA1 gene and prostate cancer risk.
21499684 Oral contraceptive use and paternal origin of mutation affect breast cancer penetrance in Jewish BRCA1 and BRCA2 mutation carriers.
21496870 positive nuclear breast cancer susceptibility gene-1 (odds ratio, 0.3982; 95% confidence interval, 0.169-0.936), significantly correlated with family history of breast cancer
21487248 Loss of function of various proteins involved in double strand break repair other than BRCA1/2 has been suggested to be synthetically lethal with PARP inhibition.
21484799 A significant association of DR4 683A > C with a higher risk for ovarian cancer in carriers of BRCA1 mutations.
21473589 Mutations at Arg1699 (R1699W and R1699Q) significantly reduce peptide binding through loss of contacts to the main chain of the Phe(+3) residue and, in the case of R1699W, to a destabilization of the BRCT fold
21472990 The authors report here the involvement of miR-146a and miR-146b-5p that bind to the same site in the 3'UTR of BRCA1 and down-regulate its expression as demonstrated using reporter assays.
21455666 BRCA1 and BRCA2 mutation carriers are associated with contralateral breast cancer.
21444675 Bcl-2 inhibits nuclear homologous recombination by localizing BRCA1 to the endomembranes
21441093 Zinc finger of P53 and Ring finger of BRCA1 are similar domains having mostly binding activity.
21427728 An association was observed between p.Arg280His-rs25489 in XRCC1 and breast cancer risk for BRCA1/2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes.
21425892 7-fold increase in Endometrial Cancer risk with tamoxifen exposure is asscoiated with female family members from BRCA1 mutation.
21424757 BRCA1 mutation is associated with high risk of pelvic serous cancer.
21410590 An evaluation of the frequency and form of sequence alterations in BRCA1 gene in breast cancer patients from Kazakhstan showed a higher prevalence of BRCA1 sequence alterations in women with breast cancer compared with healthy controls.
21407215 TFII-I may modulate the cellular functions of BRCA1.
21406551 RAP80/BRCA1 complexes suppress excessive double-strand break end processing, HR-type double-strand break repair, and overt chromosomal instability
21406404 Results show the mechanism by which EZH2 regulates BRCA1 expression and genomic stability mediated by the PI3K/Akt-1 pathway.
21404118 A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.
21396117 study identified a cooperative effect of loss of BRCA1 with gain of EGFR expression that leads to increased clonal proliferation of mammary epithelial cells and may render these cells vulnerable to malignant transformation
21394826 This study has assessed the possible pathogenicity of 26 intronic BRCA1 or BRCA2 variants in breast cancer.
21394302 Cases with EGFR overexpression showed high expression of RRM1 and BRCA1
21391735 the rate of BRCA1/2 mutations in double primary breast and ovarian cancer (DPBOC) patients is probably less than 60%.
21372787 When specific point mutants of full length BRCA1 were expressed from co-transfected plasmids, the effect of the specific missense mutant could be scored.
21368065 BRCA1 protein is a prognostic marker in sporadic ovarian carcinoma patients with minimal residual disease
21363924 our findings establish that transcriptional upregulation of DeltaNp63 proteins is critical for BRCA1 suppressor function
21356067 The BRCA1 gene was screened for mutations in well-characterized, Finnish, high-risk hereditary breast and/or ovarian cancer individuals.
21344391 Binding of BRCA1 proteins to nuclear chaperone Ubc9 provides a novel mechanism for nuclear import and control of tumor growth.
21344162 CDC25A, VAV1, TP73, BRCA1 and ZAP70 may be novel markers for predicting the effectiveness of radiotherapy in CRC patients.
21343941 Morphological predictors of BRCA1 germline mutations in young women with breast cancer.
21336637 ALDH1 may therefore be a diagnostic marker and a therapeutic target of BRCA1 related breast cancer.
21336636 Studies indicate that most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 accounting for about 5% of all breast cancers.
21335604 a model in which the BRCA1-RAP80 complex limits nuclease accessibility to DSBs, thus preventing excessive end resection and potentially deleterious homology-directed DSB repair mechanisms that can impair genome integrity.
21324516 BRCA1 and BRCA2 mutations are common in women with invasive ovarian cancer. All women diagnosed with invasive non-mucinous ovarian cancer should be considered to be candidates for genetic testing.
21321378 AKT1/BRCA1 in the control of homologous recombination and genetic stability.
21318380 40 novel sequence variations in BRCA1 and BRCA2 in high risk breast and/or ovarian cancer familiesin Denmark.
21309043 Results reveal a new splicing regulatory element in BRCA1 exon 6.
21296416 BRCA1 stimulates the transcriptional activities of the CaSR gene and shRNA targeting CaSR circumvented the action of BRCA1.
21289518 High BRCA1 is associated with thymic epithelial tumors.
21282464 full-length BRCA1 expression in HCC1937 decreased motility
21278312 analysis of early BRCA1 and 2-associated ovarian and fallopian tube tumorigenesis
21276604 This multicenter study demonstrates a significant survival advantage in advanced stage ovarian cancer patients with non-AJ BRCA mutations, confirming the previous studies in the Jewish population.
21245169 Recruitment of BRCA1 to the p53-binding region of the p21 promoter in response to DNA damage required methylation of Arg 754 of p300 by CARM1
21242970 Results indicate that activation of Akt is involved in Brca1-deficiency mediated tumorigenesis and that the mTOR pathway can be used as a novel target for treatment of Brca1-deficient cancers.
21232165 Among the mutations detected in the Slovenian population, 5 mutations in BRCA1 and 4 mutations in BRCA2 have not been described in other populations until now.
21221768 following a diagnosis of breast cancer, the annual risk of ipsilateral breast cancer risk in BRCA mutation carriers is 1.2% per year.
21217819 ubiquitin-proteasome plays an important role in regulating BRCA1 during genotoxic stress
21206239 BRCA1 germline mutations are associated with uterine serous carcinoma.
21203981 role of BRCA1 in tumor suppression and DNA damage response, including DNA damage-induced cell cycle checkpoint activation and DNA damage repair is discussed.
21203397 there is a disruption of the FA/BRCA pathway in BCR/ABL cells
21196292 In the molecular studies of hereditary breast cancer, BRCA1 promoter methylation should be recognized and considered together with gene mutation.
21194536 These results support the existence of a heterozygous phenotype of BRCA1 and suggest that the loss of one BRCA1 allele may suppress the fitness advantage caused by the inactivation of other tumor suppressor genes.
21191178 Rare haplotypes present in the BRCA1 3'UTR region may represent new genetic markers of breast cancer risk.
21190077 We identified novel truncating mutations in seven families; two in BRCA1, one in a site-specific breast cancer family and the other in a breast-ovarian cancer family
21187397 siParp1 inhibits cell growth, primarily by induction of apoptosis, in Brca1-deficient cells both in vitro and in vivo
21170264 By analyzing gene expression from histologically normal fallopian tube epithelium isolated from BRCA1-mutated fallopian tubes containing early neoplasms, authors identified a potential BRCA1 preneoplastic gene expression signature BRCA1 serous carcinoma.
21161372 found no significant associations between any single-single-nucleotide polymorphisms or haplotypes of BRCA1 or BRCA2 and risk of contralateral breast cancer among all women
21157449 Higher BRCA1 mRNA expression was associated with higher response rate and increased progression-free, but not overall survival
21156238 analysis of germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients
21149333 BRCA1 mutations are associated with breast carcinoma In Situ.
21135055 BRCA1-mutation is associated with treatment response in breast cancer.
21123638 A review of MEDLINE from 1989 through 2010 for the terms BRCA1, BRCA2, breast cancer, ovarian cancer, risk assessment, and genetic testing is presented.
21119707 BRCA1 c.5266dupC originated from a single common ancestor and was a common European mutation long before becoming an AJ founder mutation and is likely present in many other European countries where genetic testing of BRCA1 may not yet be common practice.
21119368 This high rate of BRCA germline mutations in uterine serous carcinoma (USC) patients coupled with a high rate of personal and familial cancer histories may suggest that USC is associated with the hereditary breast-ovarian syndrome.
21119070 Higher levels of AI in BRCA1/2 were associated with a 4.22-fold increased risk of familial ovarian cancer.
21118973 study evaluated the associations of SNPs, rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers
21118481 BRCA1-mutated and basal-like breast cancers have similar comparative genomic hybridization profiles and a high incidence of protein truncating TP53 mutations.
21104783 Gain of chromosome arm 3q is a marker for BRCA1 deficiency in hereditary and sporadic breast tumors.
21103343 Data show that inhibition of BRCA1/BARD1 downregulation is accompanied by the unscheduled recruitment of both proteins to chromatin along with Rad51.
21102443 Loss of CtBP from the BRCA1 promoter through estrogen induction, depletion by RNA interference or increased NAD+/NADH ratio leads to HDAC1 dismissal, elevated histone acetylation and increased BRCA1 transcription.
21099359 BRCA1 modulates the expression of hnRNPA2B1 and KHSRP involved in the processing of RNA, highlighting the complex nature of BRCA1-associated tumor suppressor function and disclosing a novel mechanism by which BRCA1 may affect transcription.
21080930 study found no difference in the prevalence of loss of wt BRCA1 between ER+ and ER- invasive BRCA1-associated breast cancers
21079137 Observational study of gene-disease association. (HuGE Navigator)
21063910 BRCA1 founder mutations are associated with breast cancer and/or ovarian cancer.
21042765 BRCA1 and BRCA2 genetic test in high risk patients and families.
20978178 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20978112 Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer.
20972632 BRCA1 mutation is associated with breast cancer.
20960228 there are no predominant recurring germline mutations in BRCA1 or BRCA2 genes among ethnically diverse Jewish and non Jewish high risk families in Israel.
20950396 Observational study of gene-disease association. (HuGE Navigator)
20944121 found an overall increase of loss of heterozygosity (LOH) in carcinomas with simultaneous LOH of BRCA1
20940403 BRCA1-IRIS overexpression promotes cisplatin resistance in ovarian cancer
20924075 All individuals were heterozygote carriers and none had a double mutation of both founder mutations in the BRCA1 gene itself
20924075 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20919953 Suggest that the frequency of BRCA1/2 gene rearrangements is very low in Turkish breast/ovarian cancer patients.
20890790 Besides BRCA1/2 further high-risk breast cancer genes are known; however they account only for a small fraction of inherited breast cancer cases. Most of them are involved in rare cancer predisposition syndromes.
20882403 BRCA1 promoter methylation in PBCs may constitute a novel risk factor for breast cancer with BRCA1 promoter methylation.
20878485 BRCA1 mutations are associated with breast cancer and/or ovarian cancer.
20862552 Mutations in BRCA1 is associated with breast cancer.
20862552 Observational study of gene-disease association. (HuGE Navigator)
20859677 Observational study of gene-disease association. (HuGE Navigator)
20852631 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer.
20852631 Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20850175 Observational study of gene-disease association. (HuGE Navigator)
20848184 analysis of two novel variants in the 3'UTR of the BRCA1 gene in familial breast and/or ovarian cancer
20845286 breast cancer was induced in wild type p53 cells by BRCA1(breast cancer 1 early onset protein) overexpression
20843305 Ovarian high-grade serous carcinomas arise through oncogenic mechanisms that result in chromosomal instability, irrespective of BRCA1 status
20842456 Observational study of gene-disease association. (HuGE Navigator)
20840664 Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer.
20840220 The deletions of 4.4 and 3.2 kb identified in exons 24 and 20, respectively in the BRCA1 gene in Greek breast cancer patients appear to be founder mutations for the Greek population.
20838878 study identified one of six founder mutations in BRCA1 in 23% of Bahamian women with breast cancer
20838878 Observational study of gene-disease association. (HuGE Navigator)
20825051 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20820192 BRCA1 prevents global DNA hypomethylation through positively regulating DNMT1 expression, and this provides one of mechanisms for BRCA1-associated breast cancer formation.
20818429 CtBP1 represses Brca1 transcription by binding to the E2F4 site of the Brca1 promoter. The recruitment of CtBP1 to the Brca1 promoter increased at high NADH levels in hypoxic conditions.
20814958 REVIEW: includes how ER alpha could influence BRCA1-defective tumor progression, phenotype of BRCA1-defective cancers, and role of BRCA1 in other cancers
20813000 Meta-analysis of gene-disease association. (HuGE Navigator)
20809358 MAP3K1 rs889312 polymorphism is associated with increased risk of breast cancer in BRCA1 mutation carriers
20809358 Meta-analysis of gene-disease association and gene-gene interaction. (HuGE Navigator)
20809262 Observational study of gene-disease association. (HuGE Navigator)
20807817 Findings uncover a novel regulatory mechanism that supports the contribution of TAp73 as an important mediator of the response to platinum chemotherapy in a subset of ovarian carcinomas.
20807450 A common genetic variant in BRCA1 (3232A > G) was found to be over-represented in deleterious mutation carriers of breast cancer.
20807450 Observational study of gene-disease association. (HuGE Navigator)
20804917 BRCA1-associated tumors are typically negative for estrogen receptor, progesterone receptor, but was detected in a patient with breast cancer.
20798986 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20797776 Given the eightfold difference in reported frequency of BRCA1 inactivation by methylation in pioneering studies, a re-appraisal of the literature, techniques, samples used, and interpretations of BRCA1 inactivation is warranted.
20737206 Report a recombination-based method to characterize human BRCA1 missense variants.
20733129 Testing women with triple negative breast cancers who were younger than 50 years for BRCA mutations is a cost-effective strategy and should be adopted into current guidelines for genetic testing.
20731661 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20730487 BRCA1 mutation is associated with menopausal status modifying the association between body weight and breast cancer and disease progression.
20730487 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20727672 Data show that the non-founder mutations constitute the minority of BRCA1 defects in Russia.
20727230 Studies indicate that HOXA9 restrains breast cancer progression by upregulation of BRCA1.
20722102 Of the 173 patients, 43 (25%) were found to have a tubal lesion, including 23% of the BRCA1 mutation carriers and 27% of the BRCA2 mutation carriers.
20721750 Developing functional assays for BRCA1 unclassified variants.
20721747 Development of a scoring method to screen for BRCA1/2 mutations.
20721742 The coding sequence and exon-intron junctions of BRCA1 and BRCA2 were amplified in 24 multiplex PCRs using a single condition.
20721735 Prioritizing candidate genetic modifiers of BRCA1 and BRCA2 using a combinatorial analysis of global expression and polymorphism association studies.
20711688 BRCA1 mutation is associated with pancreatic adenocarcinoma
20694749 BRCA1 mutation is associated with very young age of onset of breast cancer.
20683152 BRCA1 germline mutation is associated with breast and ovarian cancer.
20681793 data suggest that both the RING and BRCT domains of BRCA1 are required for an early step in the function of BRCA1 during DNA repair: recruitment to the sites of DNA damage
20677014 Observational study of gene-disease association. (HuGE Navigator)
20676756 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20665887 Observational study of gene-disease association. (HuGE Navigator)
20652397 the minor allele del of CASP8 rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations
20652397 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20646629 In sporadic breast carcinoma, a negative expression of BRCA1 is selectively associated with a higher expression rate of progesterone receptor A rather than progesterone receptor B.
20644999 among BRCA1/2 mutation carriers, prophylactic surgery is cost effective compared to chemoprevention and screening
20644561 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20638925 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20638108 Large genomic rearrangements in BRCA1 were strongly associated with positive family history of ovarian cancer among the Turkish population.
20638108 Observational study of gene-disease association. (HuGE Navigator)
20632086 Reduced microcephalin also correlated with reduced nuclear BRCA1 staining
20631078 Findings identify a function for HERC2 in regulating BRCA1 stability in opposition to BARD1.
20631074 Data suggest a novel role of cytoplasmic translocation of BRCA1, not only in controlling its DNA repair functions, but also in the regulation of cell death processes following DNA damage.
20625817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20625126 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20617377 Study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2.
20614009 results suggest that methylation may influence either the ability of BRCA1 to bind to specific promoters or protein-protein interactions which alters the recruitment of BRCA1 to these promoters
20610542 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20609468 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20609467 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20608972 [REVIEW] the subcellular localization of BRCA1, with particular emphasis on its nuclear import and export processes
20608971 [REVIEW] the emerging role of BRCA1 in nonhomologous end-joining-mediated DNA repair following DNA damage, as well as the activation of apoptotic pathways.
20608970 [REVIEW] functional classifications of risk-associated BRCA1 mutations and their molecular, cellular and clinical impact for mutation carriers.
20606085 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20596889 Data suggest that while BRCA1 genomic rearrangement exists, they do not contribute significantly to BRCA1-associated risk in the Nigerian population.
20587410 Observational study of gene-disease association. (HuGE Navigator)
20585849 The benign stroma of BRCA1 mutation carriers shows higher ALDH1 expression than age-matched controls, implying that BRCA1 may be an (in)direct regulator of mammary stromal ALDH1 expression.
20581465 This feature item briefly reviews the relation of the tumor suppressor function of BRCA1 with DNA damage and repair.
20579331 BRCA1 genes mutations are responsible for a significant proportion of breast cancer.
20576130 Early malignant transformation through FAK and STAT1 networking in BRCA1 mutant ovarian epithelium.
20570322 Approximately 30% of women with fallopian tube cancer have a mutation in BRCA1 or BRCA2.
20570322 Observational study of gene-disease association. (HuGE Navigator)
20569256 Authors found three novel BRCA1 founder mutations 5382insC, 4153delA and Cys61Gly in a genetic association study of breast and ovarian cancers in Belarus which is where the 1986 Chernobyl accident took place.
20569256 Observational study of gene-disease association. (HuGE Navigator)
20567915 BRCA1 mutation is associated with breast and ovarian cancer predisposition families from a North-Eastern Romanian population.
20549370 Observational study of gene-disease association. (HuGE Navigator)
20541936 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20537530 Meta-analysis of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20535403 Observational study of gene-disease association. (HuGE Navigator)
20522537 Observational study of gene-disease association. (HuGE Navigator)
20516115 Missense variations in the BRCT domain of BRCA1 is associated with breast neoplasms
20514903 The prevalence of BRCA1 mutations in families at high-risk of breast and/or ovarian cancer is relatively frequent.
20513533 Interaction between BRCA1/BRCA2 and ATM/ATR associate with breast cancer susceptibility.
20513533 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20513136 Data identified splicing aberration for BRCA1c.4868C>G(p.Ala1623Gly) and BRCA2c.7988A>T(p.Glu2663Val) and c.8168A>G(p.Asp2723Gly).
20512419 BRCA1 mutation is associated with breast and ovarian Neoplasms.
20507347 study sought the presence of any of 3 founder mutations in BRCA1 (4153delA, 5382insC and C61G) in 500 unselected cases of breast cancer in Belarus; one of the three founder mutations in BRCA1 was present in 38 of 500 unselected cases of breast cancer
20507347 Observational study of gene-disease association. (HuGE Navigator)
20505321 In this study BRCA1 methylation level and frequency was higher in basal-like subtype compared to luminal or human epithelial growth factor receptor-2 breast cancer subtypes.
20496165 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20495005 Akt prevents the translocation of BRCA1 to DNA damage foci and, thereby, inhibits the activation of Chk1 following DNA damage
20487263 Hypermethylation of BRCA1 may play an important role in the chemosensitivity of ovarian cancer.
20482762 Observational study of gene-disease association. (HuGE Navigator)
20472656 This study assessed the pathological mutation detection rates for BRCA1, BRCA2 and the CHEK2c.1100 delC mutation in 2022 women with breast cancer, including 100 with breast/ovary double primary and 255 with bilateral breast cancer.
20472656 Observational study of gene-disease association. (HuGE Navigator)
20470789 BRCA1 promoter methylation was not associated with loss of its protein expression in breast cancer patients; GSTP1 and BRCA1 hypermethylation were found to be independent of other prognostic factors in predicting disease recurrence
20467918 ERCC1, RRM1 and BRCA1 are promising predictive and prognostic biomarkers in advanced non-small cell lung cancer.
20459916 Observational study of gene-disease association. (HuGE Navigator)
20458532 Data suggest that breast cancer risk among mutation-negative women from BRCA1/2 mutation-positive families is similar to that observed in the general population.
20455026 we report the first identification of a Danish breast and ovarian cancer family heterozygote for mutations in the BRCA1 and BRCA2 genes
20453858 find reduced 53BP1 expression in subsets of sporadic triple-negative and BRCA1-associated breast cancers
20453000 Observational study of gene-disease association. (HuGE Navigator)
20452659 Authors studied 103 women with fallopian tube cancer (48 with a BRCA1 mutation, 12 with a BRCA2 mutation and 43 with no identified BRCA mutation) and 980 matched controls.
20452659 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20451485 BRCA1 rearrangements are associated with breast cancer.
20437199 Conclude that screening of Greenlandic Inuits with high risk of breast or ovarian cancer should include sequencing of the entire BRCA1 gene.
20429624 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20422428 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20418484 New loci appeared to interact multiplicatively for breast cancer risk in BRCA1 and BRCA2 carriers.
20418484 Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20417865 These data suggest that concomitant allelic losses of the BRCA1 and FHIT genes are associated with more aggressive breast tumors.
20413709 Genotyped a minor allele in the BRCA1 promoter; no evidence for an association between the variant and breast cancer risk was found.
20413709 Observational study of gene-disease association. (HuGE Navigator)
20411323 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20411314 study has informed the development of an appropriate support network based on a hub and spoke model to help BRCA1/BRCA2 carriers and their families adapt to living and coping with their genetic risk
20406939 Data extend the ovarian BRCAness phenotype, imply BRCA1/2-deficient ovarian cancer is biologically distinct, and suggest that patients with visceral metastases should be considered for BRCA1/2 sequencing.
20398395 Lympho-vascular invasion is frequent in BRCA1 germline mutation related breast cancers, but seems to occur as often in sporadic controls matched for age, grade and tumor type.
20389018 HOXA9 restricts breast tumor aggression by modulating expression of the tumor suppressor gene BRCA1
20388772 BRCA1 plays a role in cell cycle control; BRCA1 is a marker of clinical prostate cancer prognosis
20384635 natural mutant allele of BRCA1 (Mut.BRCA1) can elicit some of the changes involved in metastatic progression in human breast cancer via the overexpression of osteopontin.
20383578 Receipt of BRCA1/2 mutation test results impacts how carriers see the positive aspects of risk reducing oophorectomy/mastectomy and their surgical intentions.
20380699 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20378548 Data show that majority of mutations cause loss of function by reducing the proportion of BRCA1 molecules that are in the folded state and increasing the proportion of molecules that are unfolded.
20376556 BRCA1 mutation decreases short-term and long-term overall survival rates and short-term progresion-free survival rates in breast cancer. Review.
20376556 Meta-analysis of gene-disease association. (HuGE Navigator)
20373018 Case Reports: Report double heterozygosity for BRCA1 and BRCA2 mutations and the pathological features of breast/ovarian neoplasms that develop.
20371364 Data show an association between deficient non-double strand breaks cluster repair and accumulation of chromatid breaks in BRCA1 deficient breast cancer cells.
20369283 Case Report: Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation
20368571 The risks of subsequent contralateral breast cancer are substantial for women who carry a BRCA1/BRCA2 mutation.
20368571 Observational study of gene-disease association. (HuGE Navigator)
20364308 MyoD and c-myb are involved in regulation of basal and estrogen-induced transcription activity of the BRCA1 gene
20364141 loss of BRCA1 or its Chk2-mediated phosphorylation leads to spindle formation defects and Chromosomal instability
20361264 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20353281 analysis of locally prevalent BRCA1/2 mutations in all breast cancer patients might extend substantially the percentage of identified mutation carriers.
20353281 Observational study of gene-disease association. (HuGE Navigator)
20351172 Data suggest that UBXN1 regulates the enzymatic function of BRCA1 in a manner that is dependent on its ubiquitination status.
20345474 prevalence of BRCA1 founder mutations in unselected cases of breast, ovarian and colon cancer in Lithuania; identified founder mutation(4153delA, 5382insC or C61G) in 6% of unselected cases of breast cancer and in 19% of unselected cases of ovarian cancer
20345474 Observational study of gene-disease association. (HuGE Navigator)
20338046 We investigated methylation patterns in the promoter regions of ABCB1, ATM, BRCA1, CDH3, CDKN2A, CXCR4, ESR1, FBXW7, FOXC1, GSTP1, IGF2, HMLH1, PPP2R2B, and PTEN75 in well-described pre-treatment samples from locally advanced breast cancer
20337906 Observational study of gene-disease association. (HuGE Navigator)
20331623 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20309627 Data suggest that the risk for breast cancer among BRCA1 or BRCA2 carriers may be modified by reproductive characteristics and alcohol use.
20309627 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20306497 The study results suggest that genes that act upstream of p53, or participate in the DNA damage response, may modify the risk of cancer in women with mutant BRCA1/2 alleles.
20306497 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20234365 Rates of new primaries are predicted to some extent by mutation status
20234365 Observational study of gene-disease association. (HuGE Navigator)
20234119 BRCA1 mutation is associated with increases in breast cancer worry in African American women.
20232141 study of BRCA rearrangements in South Africa reveals that large genomic rearrangements (LGR) comprise ~3% of identified BRCA1 mutations; one LGR was detected which is a novel deletion of both exons 23 and 24
20221693 Major gene rearrangements involving the BRCA1 and BRCA2 genes appear to contribute little to the burden of inherited predisposition to breast and ovarian cancer in the Ashkenazim.
20221693 Observational study of gene-disease association. (HuGE Navigator)
20219108 Observational study of gene-disease association. (HuGE Navigator)
20216074 Hereditary breast and ovarian cancer due to mutations in BRCA1(Review)
20215541 A high proportion of DNA variants of BRCA1 is associated with aberrant splicing in breast/ovarian cancer patients.
20215531 BRCA2 mutation carriers had an increased risk of prostate cancer and a higher histologic grade, and BRCA1 or BRCA2 mutations were associated with a more aggressive clinical course.
20215531 Observational study of gene-disease association. (HuGE Navigator)
20215423 This study provides evidence of a novel interaction between BRCA1 and beta-catenin, and that loss of BRCA1 leads to impaired expression of the nuclear form of beta-catenin, which may contribute to the pathogenesis of breast cancer
20209131 BRCA1 mRNA has a role in time to progression and overall survival of sporadic breast cancers treated with anthracycline-based chemotherapy
20206018 Observational study of gene-disease association. (HuGE Navigator)
20204502 The incidence of breast and ovarian cancer in BRCA2 mutation carriers and of ovarian cancer in BRCA1 mutation carriers is still high after 60 years.
20204502 Observational study of gene-disease association. (HuGE Navigator)
20195775 Observational study of gene-disease association. (HuGE Navigator)
20185827 analysis of transcriptional regulation of the base excision repair pathway by BRCA1
20180971 Observational study of gene-disease association. (HuGE Navigator)
20180014 Occult ovarian cancers may be found at the time of risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers.
20177704 BRCA1 alterations specifically correlate with clinicopathological characteristics of Bulgarian patients with breast cancer.
20177704 Observational study of gene-disease association. (HuGE Navigator)
20174566 These results suggest that, compared to BRCA1 and BRCA2 mutation carriers, non-BRCA1/2 (BRCAX) individuals are genetically heterogeneous.
20173781 in human cells BRCA1 binding to FANCJ is critical to regulate DNA repair choice and promote genomic stability.
20160719 DBC1 may modulate the cellular functions of BRCA1 by direct interaction.
20159462 structure & peptide binding specificity of BRCT domains of MDC1 & BRCA1; crystal structures of BRCA1 & MDC1 bound to peptides show differences in the environment of conserved arginines that determine affinity for peptides with -COO(-) vs -CO-NH(2) termini
20151938 Observational study of gene-disease association. (HuGE Navigator)
20149218 Observational study of gene-disease association. (HuGE Navigator)
20135363 Hypermethylation in the BRCA1 promoter is associated with sporadic breast tumours.
20135348 Report large genomic rearrangements in BRCA1 gene in Czech high-risk breast/ovarian cancer patients.
20135344 Chemotherapy and tamoxifen reduced the risk of contralateral breast cancer in BRCA1/BRCA2 carriers and non-carriers to a similar relative degree.
20134318 The prophylactic procedure is highly effective in preventing invasive breast cancer in BRCA1 mutation carriers
20127252 The expression of BRCA1 may work to reduce the telomere length in precancerous lesions and offer new insight into the mechanism of carcinogenesis in gastric cancer.
20104584 analysis of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer
20103632 Data build the connection between BRCA1 loss of function and AREG upregulation-a change in gene expression often observed in breast cancer.
20103620 Study established a robust assay system to analyze the function of BRCA1 in regulating homologous recombination, which is critical for its tumor suppressor function.
20088375 Detection of 5382insC mutation in human BRCA1 gene using fluorescent labeled oligonucleotides
20088375 Observational study of genetic testing. (HuGE Navigator)
20081198 DNA-bound BRCA1 C-terminal region from human replication factor C p140 and model of the protein-DNA complex
20077502 analysis of cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families
20075200 The observed colocalization of BRCA1 and nucleolin raises new possibilities for the nucleoplasm-nucleolus pathways of these proteins and their functional significance.
20068145 Results define a novel transcriptional mechanism of autoregulated homeostasis of BRCA1 that selectively titrates its levels to maintain genome integrity in response to genotoxic insult.
20060929 BRCA1 and BARD1 are required for estrogen receptor alpha ubiquitination and degradation, and repression of either one leads to ERalpha accumulation, suggesting a feedback loop between BRCA1-BARD1 and estrogen receptor alpha
20059483 The aim of this study is to outline the uptake of risk-reducing surgery in the Danish population of BRCA mutation positive women and to search for factors affecting this decision.
20056647 p16 methylation may be a predictor of BRCA1 mutation status
20043088 Observational study of gene-disease association. (HuGE Navigator)
20041308 detailed morphological analysis of breast cancers of BRCA1 ins6kbEx13 mutation carriers demonstrated a rare histological variant of breast carcinomas that has never been described in patients carrying BRCA1 mutations
20038817 loss of BRCA1 function may contribute to the aggressiveness of Ras-MAPK driven breast cancer with associated increase in levels of cyclin D1 and c-myc, enhanced MAPK activity, angiogenic potential & invasiveness
20033769 Observational study of gene-disease association. (HuGE Navigator)
20033483 the population of Eastern Spain showed a great heterogeneity in the BRCA1 and BRCA2 mutations
20032382 BRCA1 expression in tumors was significantly correlated with individual mitotic spindle protein expressions, and TERT and MAD2L1 expressions were moderately correlated in the tumor group.
20020529 Multifactorial likelihood analysis indicates that the BRCA1 c.135-1G>T and BRCA2 c.7977-1G>C variants are disease-associated mutations which should be managed clinically in the same fashion as classical truncating mutations.
20016594 BRCA1 is modified by small ubiquitin-like modifier (SUMO) in response to genotoxic stress, and co-localizes at sites of DNA damage with SUMO1, SUMO2/3 and the SUMO-conjugating enzyme Ubc9
20008645 Observational study of gene-disease association. (HuGE Navigator)
20007691 Data found that HMGA2, along with a dozen of other genes, was co-repressed by ZBRK1, BRCA1, and CtIP.
19996031 Observational study of genetic testing. (HuGE Navigator)
19996028 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19956635 Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19950226 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19949853 Observational study of gene-disease association. (HuGE Navigator)
19943104 UHRF1 regulates BRCA1 transcription by inducing DNA methylation, histone modifications, and recruitment of transcriptional complex on the BRCA1 promoter in breast neoplasms.
19941167 Observational study of genotype prevalence. (HuGE Navigator)
19940364 Promoter hypermethylation was observed in PRB 67%, ERalpha 64%, RASSF1A 63%, p16INK4A 51%, RARbeta2 22%, GSTP1 25% and BRCA1 27% of the breast cancers, respectively.
19921428 Observational study of gene-disease association. (HuGE Navigator)
19920816 the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers.
19920816 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19906413 BRAt increases maspin expression with preferential nuclear localization of maspin. Further, Brat-mediated maspin expression is transcriptionally regulated through an AP1 site within the (-520) to (-297) region of the promoter.
19903338 Observational study of gene-disease association. (HuGE Navigator)
19899408 Observational study of gene-disease association. (HuGE Navigator)
19898224 Multistep level sections to detect occult fallopian tube carcinoma in risk-reducing salpingo-oophorectomies from women with BRCA mutations: implications for defining an optimal specimen dissection protocol.
19892845 Observational study of gene-disease association. (HuGE Navigator)
19887647 Data suggest BRCA1 regulates post-translational modification (i.e., acetylation versus ubiquitination) of estrogen receptor-alpha (ESR1) and thus regulates ESR1 activity.
19887602 Our data imply a critical role of UBE2T in development and/or progression of breast cancer through the interaction with and the regulation of the BRCA1/BARD1 complex.
19885732 In this prospective study of women who were unaffected at the time of genetic testing and who were negative for the known familial mutation in BRCA1/2, no excess risk of invasive breast cancer was observed.
19877752 5382insC and 185delAG mutations in BRCA1 and 6174delT in BRCA2 have much less frequency in Iranian breast cancer patients.
19877752 Observational study of gene-disease association. (HuGE Navigator)
19877382 Presence of BRCA1/2 genes mutations are associated with more aggressiveness of the breast cancer and absence of the ER, PR, HER-2 receptors.
19877382 Observational study of gene-disease association. (HuGE Navigator)
19876733 The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 mutation carriers.
19876733 Meta-analysis of gene-disease association and gene-gene interaction. (HuGE Navigator)
19875889 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q.
19865540 Two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) alter gene expression in breast and ovarian cancer.
19863560 a predisposing mutation in BRCA1,is present in approximately 6% of French-Canadian women with early-onset breast cancer
19863560 Observational study of gene-disease association. (HuGE Navigator)
19858402 Examine contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers.
19858402 Observational study of gene-disease association. (HuGE Navigator)
19843854 BRCA1 expression is downregulated in uterine leiomyosarcoma.
19843683 BRCA1 mutation carriers who underwent adnexectomy is associated with oxidative DNA damage in breast and ovarian neoplasms.
19843326 Study investigated the role of genetic variation in IGF signaling and breast cancer risk in women carrying deleterious mutations in BRCA1 and BRCA2.
19843326 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19841329 BRCA1 mutation testing is associated with ovarian cancer prevention.
19839046 genomic instability instigated by BRCA1 haploinsufficiency may be required for breast cancer initiation in BRCA1 mutation carriers
19837273 Authors report the case of a woman in whom germline mutations in both MEN1 and BRCA1 were identified.
19826428 molecular complexity of BRCA1 breast tumours, which are found to display similarities to sporadic tumours, and suggests possible prognostic implications.
19818997 AR allelotype length did not correlate with survival in this statistically representative cohort of patients with BRCA1/2 mutations. Associations between short AR and outcome in BRCA2-associated ovarian cancers remain to be determined.
19818997 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19805903 BRCA1 germ-line mutation analysis among Indian women from south India identified novel mutations and a high frequency occurrence of a base-pairing gene deletion.
19802895 BRCA1 ovarian tumors present a different type, number, and length of recurrent copy number alterations.
19802015 Data suggest KL-VS as a breast and ovarian cancer risk modifier among BRCA1 mutation carriers.
19798417 analysis of BRCA1/2 mutation-carrying and non-mutation-carrying high-grade serous carcinomas of ovary
19797051 Rad50 is required to localize BRCA1 at the telomere and that the association of BRCA1 with Rad50 does not require DNA.
19796682 The dispersal of nuclear BRCA1/BARD1 foci is part of the late response to genotoxic stress, and a mechanism for terminating BRCA1/BARD1-associated DNA repair complexes.
19795125 BRCA1 associated cancers are predominantly high grade (G3), triple negative, highly proliferative (median Ki-67 55%) and only exceptionally accompanied by lobular intraepithelial neoplasia.
19789190 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19773279 Observational study of gene-disease association. (HuGE Navigator)
19768112 loss or reduction of BRCA1 alters TGF-beta growth inhibiting activity via Smad3 during oxidative stress responses
19766185 indicate that BRCA1-BARD1 and 53BP1 are proximal but not overlapping at DNA break sites and are consistent with recent evidence for distinct roles of these proteins in the DNA damage response pathway.
19763692 BRCA1 and BRCA2 mutations are associated with breast and ovarian cancer.
19753840 Observational study of gene-disease association. (HuGE Navigator)
19752737 Observational study of genetic testing. (HuGE Navigator)
19747471 Observational study of genetic testing. (HuGE Navigator)
19745749 Nomenclature for BRCA1/2 DNA test.
19729830 BRCA1 and HSD17B2 genes may increase the risk of developing breast cancer via enhanced estradiol activity.
19724277 BRCA1 cancers with positive HIF-1alpha or cytoplasmic FIH had a significantly shorter relapse-free survival.
19714462 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19709408 BRCA1-deficient cells are dependent on EZH2, whereas BRCA1-proficient cells are not.
19707196 There was no evidence that TP53 Arg72Pro or MDM2 309T>G, either singly or in combination, influence breast cancer risk in BRCA1 or BRCA2 mutation carriers.
19707196 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19690768 The relationship between morphological characteristics and immunohistochemical profile of 14 BRCA1-positive breast tumors, was evaluated.
19690177 Observational study of gene-disease association. (HuGE Navigator)
19672706 Risk associated with estrogen monotherapy was modified by BRCA1_rs799917. We observed a trend with increasing minor T alleles leading to the highest risk in homozygous carriers of the minor allele.
19672706 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19671671 The successful detection of BRCA1, FANCD2, and RAD51 foci in breast cancer biopsies irradiated ex vivo, is reported.
19669600 BRCA1/2 genomic rearrangement is likely to make only a small contribution to breast cancer in the Korean population.
19661094 Heterozygosity and homozygosity of any of the examined nine BRCA1 and BRCA2 missense polymorphisms cannot explain the increased risk of breast and/or ovarian cancer observed in families with hereditary breast and/or ovarian cancer.
19661094 Observational study of gene-disease association. (HuGE Navigator)
19661089 Observational study of gene-disease association. (HuGE Navigator)
19656998 The novel mutation 1125delCT (exon 11) was identified in BRCA1 in a family with multiple members affected by breast cancer .
19656774 SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation.
19656774 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19656415 Observational study of gene-disease association. (HuGE Navigator)
19656164 This study suggests the possibility of the first true founder mutation of BRCA1/BRCA2 identified in the Korean population.
19649760 Observational study of gene-disease association. (HuGE Navigator)
19649554 BRCA1/2 mutation is associated with ipsilateral-breast tumor recurrence after breast-conserving surgery.
19649554 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19648928 An aberrant luminal progenitor population is a target for transformation in BRCA1-associated basal tumors .
19644562 BRCA1 methylation correlated with age at diagnosis (P = .015) and 5-years disease free survival (P = .016) while hMLH1 methylation was more frequent in larger tumors (P = .002) and in presence of distant metastasis (P = .004).
19644020 Observational study of genetic testing. (HuGE Navigator)
19642207 Observational study of gene-disease association. (HuGE Navigator)
19638463 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19623658 Observational study of gene-disease association. (HuGE Navigator)
19619314 analysis of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
19619314 Observational study of gene-disease association. (HuGE Navigator)
19617217 The associations for FGFR2 (OR=1.20, p=0.046), TOX3 (OR=1.5, p<0.001), MAP3K1 (OR=1.26 p=0.03), CASP8 (OR=0.73 p=0.02) and the chromosome 8-associated SNP (OR=1.31, p=0.004) were replicated in individuals without BRCA1/2 mutations.
19617217 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19616529 Observational study of genetic testing. (HuGE Navigator)
19615284 Primary breast cancer with an unmethylated BRCA1 gene is prone to achieve a pathological complete response to anthracycline-based neoadjuvant chemotherapy than those with a methylated BRCA1 gene.
19609668 surveillance and prevention strategies may have different outcomes in BRCA1 and BRCA2 mutation carriers.
19609668 Observational study of gene-disease association. (HuGE Navigator)
19606050 Observational study of genetic testing. (HuGE Navigator)
19597986 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19596949 Since laryngeal carcinomas in men with BRCA-1 mutations show clinical features characteristic of BRCA-1 dependent tumors, it is reasonable to consider treatment modifications appropriate for this sub-group of tumors
19594371 The *BRCA1 missense mutation is a founder mutation that can be detected in geographically related populations.
19585236 MCF-7 and MDA-MB-157 carry multiple copies of the BRCA1 gene
19584580 Observational study of gene-disease association. (HuGE Navigator)
19584272 Data show that variants in genes that interact biologically with BRCA1 and/or BRCA2 may be associated with modified ovarian cancer risk in women who carry BRCA1/2 mutations.
19584272 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19584259 Show here that PALB2 physically and functionally connects BRCA1 and BRCA2 into a DNA damage response network that also includes the RAD51 recombinase.
19573080 Observational study of gene-disease association. (HuGE Navigator)
19564533 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19559722 upregulation of BRCA1 has a role in senescence-like growth inhibition of U-2 OS cells
19553641 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19549808 BRCA mutation carriers, as well as women with a significant family history of breast and ovarian cancer are more vulnerable to exogenous hormones in oral contraceptives.
19549808 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19548527 Observational study of gene-disease association. (HuGE Navigator)
19543972 Two missense changes in the BRCA1 ring finger domain L22S and T37K, were predicted to be deleterious
19543244 Observational study of gene-disease association. (HuGE Navigator)
19536649 Observational study of gene-disease association. (HuGE Navigator)
19536092 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19522853 BRCA1 promoter methylation is associated with sporadic breast cancer.
19514368 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19509300 BRCA1 interaction of Nlp might be required for the successful mitotic progression, and abnormalities of Nlp lead to genomic instability.
19504351 We have screened 2,869 persons from Greenland for the presence of a BRCA1 mutation (p.Cys39Gly) only found in the Inuit population.
19499246 The proportion of Korean ovarian cancer patients with a strong family history was significant, and the prevalence of BRCA1 and BRCA2 mutations in such patients was high.
19499246 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19492866 Data demonstrate a preference for BRCA1 binding to supercoiled DNA, and show that the central region may contain at least two efficient DNA binding domains with strong affinity for sc DNA.
19491894 Of the 987 patients, 26 were found to carry one of the above mutations in the BRCA1 gene: 13 carried the c.5266dupC mutation, 6 carried the exon 24 deletion, 3 carried the exon 20 deletion, and 4 carried the G1738R mutation.
19491894 Observational study of gene-disease association. (HuGE Navigator)
19491284 Prevalence of BRCA1 mutation and risk of secondary malignancies across diverse racial groups in young women with breast cancer are reported.
19491284 Observational study of gene-disease association. (HuGE Navigator)
19489266 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19484476 BRCA1 and ZNF350 may jointly contribute to individuals' susceptibility of breast cancer in Chinese women.
19484476 Observational study of gene-disease association. (HuGE Navigator)
19482343 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19454503 results have confirmed that BRCA1, RASSF1, GSTP1 and EPHB2 promoter methylation was found in each prostate cancer sample
19454451 Review states that referral criteria for BRCA1 genetic testing may differ between European countries based on BRCA1 mutation prevalence.
19452558 The presented experimental results are one step towards the elucidation of the effect of various missense mutations on the structure and function of BRCA1-BRCT.
19445691 Lack of functional BRCA1 protein correlates with higher aromatase CYP19A1 levels of BRCA1 mutation carriers.
19440381 Data provide evidence that in breast cancer cells BRCA1 is involved in XIST regulation on the active X chromosome.
19415121 RAP80 was a significant factor for survival in patients treated according to BRCA1 levels
19405875 The BRCA1 3' UTR:5711+421T/T_5711+1286T/T genotype is a possible breast and ovarian cancer risk factor.
19405875 Observational study of gene-disease association. (HuGE Navigator)
19404736 our work supports the model of the pathogenicity of the c.5242C>A BRCA1 variant that induces exon skipping by creating a sequence with silencer properties
19393826 This deletion that eliminates the ATG initiation site in exon 2 and the sequence located in exons 2 and 3 encoding part of the RING finger domain of BRCA1 protein, is expected to abolish the function of this protein.
19390427 Observational study of gene-disease association. (HuGE Navigator)
19389812 BRCA1 inhibits progestin-stimulated PR activity, in part, by preventing PR from binding to the PRE and by promoting the formation of a corepressor complex rather than a coactivator complex
19383376 review of available data on ovarian cancers in the context of other investigations of BRCA-related transcriptional alterations
19383375 REVIEW: Germline mutations of the BRCA1 and BRCA2 genes confer a high life-time risk of ovarian cancer
19383374 REVIEW: BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome
19383373 REVIEW: BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome
19383352 Sequencing the RAD50, MRE11 and NBS1 genes of 8 patients from non-BRCA1/2 breast cancer families whose tumours showed concomitant reduction/loss of all three MRN-complex proteins revealed two germline mutations in MRE11
19381686 Our data suggest that early stage BRCA1-associated breast cancers are more frequently ERalpha and PR positive and low grade than advanced stages.
19377795 The prevalence of germline mutations in the BRCA1 and BRCA2 genes found was lower than reported on high-risk Brazilian populations.
19377795 Observational study of gene-disease association. (HuGE Navigator)
19374245 Short-term hormone replacement therapy use does not negate the protective effect of prophylactic adnexectomy on breast cancer risk reduction in BRCA1 gene mutation carriers.
19374244 Incidence of moderate and severe malocclusion is at least not increased among BRCA1 carriers.
19372713 It was shown that the presence of the mutations in the BRCA1/2 genes among patients with bilateral breast cancer is associated with an earlier occurrence of the first and the second breast cancer than in patients without hereditary mutations.
19372713 Observational study of gene-disease association. (HuGE Navigator)
19372557 Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells in breast cancer.
19370767 Observational study of genetic testing. (HuGE Navigator)
19370414 parity appears to be associated with protection from breast cancer in women with mutations in BRCA1 and BRCA2
19370414 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19369211 impaired homologous recombination repair is one of the fundamental causes for genomic instability and tumorigenesis observed in patients carrying BRCA1, BRCA2, or PALB2 mutations
19366906 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19366445 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19364506 Wild-type BRCA1 (but not a cancer-associated mutant) significantly reduced ROS levels, determined by DCF fluorescence assays by flow cytometry and confocal microscopy
19361418 Data suggest that BRCA1 is a general repressor of RNA pol III transcription.
19360465 specific polymorphisms do not influence breast or ovarian cancer risk in Polish women carrying one of the three common BRCA1 founder mutations
19353265 We identified seven (7/22, 31.8%) new deleterious mutations and also confirmed and reported a BRCA2 founder mutation in our Hong Kong Chinese cohort
19351817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19340607 promoter methylation is a not a frequent "second-hit" in tumors from BRCA1 or BRCA2 carriers.
19338682 Observational study of gene-disease association. (HuGE Navigator)
19336573 The presence of deleterious TP53 mutations in most, if not all, BRCA1-related breast cancers suggests that p53 loss of function is essential for BRCA1-associated tumorigenesis.
19333752 the spectra of the BRCA founder mutations differ between Hispanic families of Mexican origin from the United States and families from Colombia
19329713 Observational study of gene-disease association. (HuGE Navigator)
19307946 BRCA1/2 mutations increased the chemosensitivity and radiosensitivity of large breast cancers.
19307946 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19298662 Women with early-onset triple-negative breast cancer are candidates for genetic testing for BRCA1, even in the absence of a family history of breast or ovarian cancer.
19298662 Observational study of gene-disease association. (HuGE Navigator)
19289372 High BRCA1 mRNA expression confers poor prognosis in early non-small-cell lung cancer, and the combination of high BRCA1 and low XPG expression still further increases the risk of shorter survival
19287957 analysis of the 190T>C missense mutation in BRCA1 codon 64 in a family pedigree
19287951 BRCA1/1a/1b fine tunes the dynamic complex interplay between SUMO-dependent/independent activities of Ubc9 on E2-induced ERalpha activation/repression and degradation in breast cancer cells
19277124 Observational study of gene-disease association. (HuGE Navigator)
19275588 HIV-1 Tat associates with BRCA1 in cells and the amino-acid 504-802 region of BRCA1 physically interacts with HIV-1 Tat
19275580 HIV-1 Tat associates with BRCA1 in cells and the amino-acid 504-802 region of BRCA1 physically interacts with HIV-1 Tat
19275579 HIV-1 Tat associates with BRCA1 in cells and the amino-acid 504-802 region of BRCA1 physically interacts with HIV-1 Tat
19270496 Cisplatin-damaged BRCA1 exhibits altered thermostability and transcriptional transactivation.
19269198 Results showed that the positive expressions of the mutated BCRA1 mRNA and p53 mRNA are involved in prostate cancer.
19268590 BRCA1 is an upstream regulator of BRCA2 in the DNA-damage response, and PALB2 is the linker between BRCA1 and BRCA2 in breast and ovarian cancer.
19261749 four members of the BRCA1-A complex possess a polyubiquitin chain-binding capability, thus forming a complex that might facilitate the deubiquitinating activity of the deubiquitination enzyme BRCC36 or the E3 ligase activity of the BRCA1/BARD1 ligase.
19261748 A stable complex containing MERIT40 acts early in DNA damage response and regulates damage-dependent BRCA1 localization.
19261746 MERIT40 represents a novel factor that links BRCA1-Rap80 complex integrity, DSB recognition, and ubiquitin chain hydrolytic activities to the DNA damage response.
19258944 Observational study of gene-disease association. (HuGE Navigator)
19258476 Observational study of gene-disease association. (HuGE Navigator)
19246281 The incidence of BRCA1 mutation is significantly lower in patients with early-onset breast cancer and their affected relatives in Guangdong province than in the Western populations.
19246281 Observational study of gene-disease association. (HuGE Navigator)
19244116 the NBS1/ATR/BRCA1 repair machinery affects centrosome behavior, and this might be a crucial role in the prevention of malignances.
19241424 Observational study of gene-disease association. (HuGE Navigator)
19237606 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19232099 Observational study of gene-disease association. (HuGE Navigator)
19229607 no codon-usage-changing variants could be identified in BRCA1
19226467 MDM2SNP309G/G main effect on BRCA1/2 positive mutation carriers is linked to its effect on patients survival.
19226467 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19223505 Elevated BRCA1 levels are associated with prostate cancer
19215791 Histopathological criteria and selection algorithms for BRCA1 genetic testing.
19215791 Observational study of genetic testing. (HuGE Navigator)
19214744 the CASP8 D302H polymorphism diminishes the high risk of breast cancer conferred by BRCA1 and BRCA2 mutations
19214744 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19205873 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19200971 There was no difference in mean parity between carriers (1.9) and noncarriers (1.9) of BRCA mutations.
19200971 Observational study of gene-disease association. (HuGE Navigator)
19200354 Genetic variants in the BRCA1 gene is associated with breast cancer.
19200354 Observational study of genetic testing. (HuGE Navigator)
19197335 Four genes encoding BRCA1-interacting proteins were analyzed in a cohort of 96 breast cancer individuals from high-risk non-BRCA1/BRCA2 French Canadian families.
19190334 Altered growth and differentiation properties may render BRCA1-mutant mammary epithelial cells to be disposed to the development of epidermal growth facor receptor positive breast cancers.
19190154 Increasing number of full-term pregnancies among parous women, OC use, and tubal ligation are associated with a reduced risk of ovarian cancer for BRCA1 mutation carriers.
19190154 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19189213 It is possible that GATA3 mutations occur earlier in the evolution of breast tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination.
19188703 BRCA1 knockdown in mammary epithelial cells causes telomere dysfunction.
19188187 Observational study of gene-disease association. (HuGE Navigator)
19176458 Meta-analysis of gene-disease association and gene-environment interaction. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19168207 Evidence suggests BRCA1 is a potential marker of response to platinum chemotherapy in EOC with BRCA1 deficiency predicting enhanced response. Evidence suggests that loss of BRCA1 function results in reduced response to antimicrotubule-based chemotherapy.
19165595 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19164445 Data suggest that LXR ligands prevent LXRalpha from ubiquitination and degradation by detaching BARD1/BRCA1, which may be critical for early transactivation of ligand-stimulated LXRalpha through binding of LXRalpha to the promoters of target genes.
19147582 TP53 mutation is highly recurrent in basal-like carcinoma independently of BRCA1 status, but not a common feature of BRCA1 luminal tumors.
19146767 BRCA1, ATR and gammaH2AX in the human may be part of a system which signals unsynapsed chromosomes at pachytene and may lead to their silencing.
19140568 there is no relationship between BRCA1 mutation and pancreatic cancer development in Polish population
19140568 Observational study of gene-disease association. (HuGE Navigator)
19139771 Three hundred and forty-five probands were examined for specific mutations of BRCA1/2 genes. The estimated penetrance for the age groups among BRCA1/2 carriers was 31.9% (<50 years) and 46.2% (> or =50 years
19139771 Observational study of gene-disease association. (HuGE Navigator)
19124506 Observational study of gene-disease association. (HuGE Navigator)
19123044 disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation
19120025 Two novel BRCA1 splicing variants targeted to different subcellular compartments in the transfected tumor cell lines.
19117993 Results suggest that BAP1 and BRCA1/BARD1 coordinately regulate ubiquitination during the DNA damage response and the cell cycle.
19116388 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19098453 study demonstrates that BRCA1 controls cell motility and invasion through its regulation of several key genes which are crucial in the progression of breast cancer
19094228 Observational study of gene-disease association. (HuGE Navigator)
19087709 Observational study of gene-disease association. (HuGE Navigator)
19083511 The BRCA1 gene is located on the long arm of chromosome 17.BRCA 1 and 2 mutations account for 5% to 10% of breast cancer cases.
19082709 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19079346 EZH2 is important in ER-negative breast cancer growth in vivo and in vitro, and BRCA1 is required for the proliferative effects of EZH2
19073515 report provides a review on BRCA1, a promising gene determinant of response to different types of chemotherapy and its potential applications as a new molecular marker in lung cancer [review]
19073505 The presence of a heterozygous BRCA1 mutation is not associated with increased levels of indicators of oxidative stress in serum or lymphocytes.
19073505 Observational study of gene-disease association. (HuGE Navigator)
19067236 all analysed mutation carriers of the 4154delA mutation of the BRCA1 gene share a common ancestry.
19067158 analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1
19064968 Founder mutations for BRCA1 and BRCA2 were identified in 5.5% of Ashkenazi patients operated on for pancreatic adenocarcinoma.
19064968 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19061860 The interaction between BRCA1 and acetyl-CoA-carboxylase is regulated during cell cycle progression.
19035463 analysis of the effectiveness of screening in diagnosing early stage ovarian cancer in BRCA1 and BRCA2 mutation carriers
19035454 DNA repair proteins BRCA1 and ERCC1 have roles in inhibiting progression of ovarian cancer
19031948 Considering the low frequency of BRCA1 mutation in the group and the absence of features characterizing BRCA1-dependent tumours in the only BRCA1-positive case, pleomorphic adenoma of salivary glands should not be recognized as a BRCA1 dependent tumour.
19031948 Observational study of gene-disease association. (HuGE Navigator)
19029836 Absence of germline BRCA1 mutations in familial pancreatic cancer patients.
19029836 Observational study of gene-disease association. (HuGE Navigator)
19018088 The findings of this study suggest that the AACC haplotype of the BRCA1 gene is an important prognostic marker in NSCLC patients treated with platinum combination chemotherapy.
19018088 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19016756 Cross-sectional analysis of germ-line BRCA1 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer is reported.
19016756 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19012493 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19012246 the presence of the E1038G polymorphism in BRCA1 exon 11 was significantly associated with protein expression and immunohistochemistry of BRCA1 doesn't discriminate between familial and sporadic breast cancer.
19012002 Studied BRCA1 and BRCA2 exp'n in young breast cancer patients;BRCA1 & BRCA2 expression correlated in healthy, but not in tumor tissues. Neither BRCA1 nor BRCA2 exp'n was assoc'd with tumor histology, diff'n, nodal metastasis or p53 and HER-2 exp'n.
19011960 analysis of novel mutations identified in Slovak HBOC families, c.80 + 3del4 (IVS2 + 3delAGTC) in BRCA1 gene and mutation c.6589delA (6817delA) in BRCA2 gene [case report]
19010915 AKT1 inhibits homologous recombination by inducing cytoplasmic retention of BRCA1 and RAD51.
19010876 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
19002265 The mRNA expression of BRCA1 is potentially a useful tool for selecting NSCLC patients for individualized chemotherapy
19001859 NFBD1, 53BP1 and BRCA1 have both unique and redundant functions in radiation-induced phosphorylation and localization events in the ATM-Chk2 pathway.
18997820 decreased BRCA1 levels modify ERalpha-mediated transcription and regulation of cell proliferation in part by altering ERalpha-coregulator association.
18992264 Functional analysis indicated that BRCA1 variants S1613C, Q1826H, and M1652I are likely to be neutral, whereas variants V1833M, Delta exons 16/17, and 5673insC are likely to represent deleterious variants.
18990759 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18980973 Among the genes showing perturbation of their expression, periostin was found to be up-regulated in HeLa/(5083del19)BRCA1 cells to an extent of 72-fold versus HeLa/(pcDNA3.1/empty) and 76-fold versus HeLa/(wt)BRCA1 cells
18976975 Knockdown of breast cancer 1, early onset (BRCA1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
18971141 Positive BRCA1 germline mutation in a woman with fallopian tube cancer following BRCA1 breast cancer.
18957670 Skewed X inactivation occurs at an increased frequency in BRCA1 (and possibly BRCA2) mutation carriers compared with control subjects and is associated with a statistically significant increase in age at diagnosis of breast and ovarian cancer.
18955455 germ-line BRCA1 or BRCA2 mutations may have a role in response to primary platinum-based chemotherapy
18955455 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18953404 Mutation of the PP1-binding motif affects BRCA1 redistribution in response to DNA damage.
18950845 Observational study of gene-disease association. (HuGE Navigator)
18950515 EGFR and BRCA1 might be candidate therapeutic targets in triple-negative breast cancer
18940477 Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes.
18936947 no association between duration of epithelial ovarian cancer symptoms and BRCA mutation status
18936166 Results describe the response of BRCA1 at DNA double-strand breaks produced by laser microirradiation, and show that accumulation of the BRCA1 N terminus, but not the C terminus, at DSBs depended on Ku80.
18930998 the presence of a CHEK2 mutation in women with a BRCA1 mutation may not increase their risk beyond that of the BRCA1 mutation alone.
18930998 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18855126 Observational study of gene-disease association. (HuGE Navigator)
18844490 In a population well beyond the average age of breast/ovarian cancer onset, 21 different sequence variants in the BRCA1 gene (one novel) and 36 variants in the BRCA2 gene (7 novel) were detected.
18844490 Observational study of genotype prevalence. (HuGE Navigator)
18842997 Observational study of gene-disease association. (HuGE Navigator)
18835712 The results suggest that somatic mutations of BRCA1 are infrequent in sporadic breast cancer, and nucleotide alterations were more easily observed in the breast cancer tissue DNA.
18835712 Observational study of gene-disease association. (HuGE Navigator)
18830263 Observational study of gene-disease association. (HuGE Navigator)
18819001 BRCA1 mutation is associated with male breast cancer.
18819001 Observational study of gene-disease association. (HuGE Navigator)
18813953 In human breast cancer, BRCA1 is significantly involved in the pathogenesis of centrosome aberrations.
18812548 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18807178 Observational study of genetic testing. (HuGE Navigator)
18798071 Higher BRCA1 mRNA expression is significantly correlated with advanced disease and ERBB2 overexpression in breast cancers.
18794105 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18783588 A high mutation detection rate and the frequent occurrence of a limited array of recurring mutations allow a simple and fast initial test for BRCA1/2 mutation screening in families with Slovenian ancestry
18782836 comprehensive study of BRCA1 promoter polymorphisms found four variants that altered promoter activity and with the most significant contribution from c.-2265C-->T, which could affect susceptibility to breast cancer in the Chinese population
18782836 Observational study of gene-disease association. (HuGE Navigator)
18779615 Observational study of gene-disease association. (HuGE Navigator)
18779604 Observational study of genetic testing. (HuGE Navigator)
18776923 overexpression of wild-type BRCA1 suppressed the expression of GRP78, whereas expression of mutant BRCA1 gene or targeted inhibition of endogenous BRCA1 using small-interfering RNA (siRNA) enhanced GRP78 expression.
18763032 The results show complexity of BRCA1 gene mutation pattern in Lithuania
18763032 Observational study of gene-disease association. (HuGE Navigator)
18762988 BRCA1 germline mutations likely predispose to the development of pancreatic cancer
18759965 Observational study of gene-disease association. (HuGE Navigator)
18758995 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18752448 BRCA1/2 in high-risk African-American women with breast cancer: providing genetic testing through various recruitment strategies is reported.
18717684 The study demonstrates for the first time that microsatellite-stable FHIT-negative sebaceous gland carcinomas accumulate mutations that target central components of the HRR network.
18717574 this kinetic analysis is similar to the K d values measured using steady-state SPR, isothermal titration calorimetry, and fluorescence anisotropy. The nature of BRCA1-BRCT may facilitate the binding of BRCA1 to different phosphorylated protein targets.
18712473 Our aim was to ascertain the pathological effect of the BRCA1 IVS6-1G>A (c. 302-1G>A) and the BRCA2 IVS15+1G>A (c. 7617+1G>A) variants detected in Spanish breast/ovarian cancer families
18711133 interactions that form two- and three-way networks in which BRCA1 plays a dominant and central role
18710587 analysis of breast cancer risk variation in BRCA1 and BRCA2 mutation carriers
18703817 BRCA1 and BRCA2 genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%
18703817 Observational study of gene-disease association. (HuGE Navigator)
18703154 Results show that p14ARF associates with Brca1, which may play a major role in tumor suppression.
18695886 BRCA1 overexpression sensitizes cancer cells to lovastatin via regulation of cyclin D1-CDK4-p21WAF1/CIP1 pathway
18694767 characterized BRCA1 and BRCA2 gene polymorphic variants in familial breast cancer
18683754 By down-regulating ERCC1, BRCA1, hMLH1 genes, blocking G0/G1 phase, and increasing apoptosis rate, mifepristone could enhance anti-tumor effect of cisplatin.
18679828 BRCA1 Y101X is the first reported recurrent mutation occurring in patients of African ancestry for which prevalence has been determined
18679828 Observational study of gene-disease association. (HuGE Navigator)
18679827 a limited role for the three Ashkenazi BRCA1/2 founder mutations in cutaneous malignant melanoma risk among the Ashkenazi Jewish population
18679827 Observational study of gene-disease association. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18663943 Observational study of gene-disease association. (HuGE Navigator)
18662409 polymorphisms in BRCA1 gene have a role in breast cancer in Sri Lanka
18647968 BRCA1-associated breast cancers show less promoter methylation compared with sporadic breast carcinomas indicating a difference in diseases etiology.
18645608 Data observed a much higher frequency of BRCA1 mutations among young breast cancer patients than observed in Europe, suggesting biological differences.
18645608 Observational study of gene-disease association. (HuGE Navigator)
18642075 we determined the methylation statuso f the promoter in putative modifier genes: BRCA1, BRCA2, ATM, ATR and P53 in Jewish BRCA1/BRCA2 mutation carriers with or without breast cancer. hypermethylation was detected only in the BRCA1 promotor
18627636 analysis of BRCA1 and BRCA2 mutations in Malaysia
18627636 Observational study of genetic testing. (HuGE Navigator)
18625847 Tip60 enables ultraviolet rays (UV)-induced dna damage response (DDR) signaling even in the absence of p53, whereas preaccumulated p53 suppresses UV-induced DDR by reducing the levels of BRCA1.
18594935 truncated proteins arising from BRCA1 185delAG mutation increase Akt-mediated apoptosis, suggesting a possible mechanism by which ovarian cancer patients with this germline BRCA1 mutation may respond better to initial chemotherapy.
18593910 An important interaction between BRCA1 and ERK1/2 in the regulation of cellular response after IR-induced DNA damage in MCF-7 cells.
18588899 transcription-induced degradation of Top1 is Brca1 dependent, suggesting a role for Brca1 in the repair or removal of transcription-blocking Top1-DNA cleavage complexes.
18577985 Observational study of gene-disease association. (HuGE Navigator)
18574689 our findings suggest no difference in the occurrence of miscarriage between BRCA1 carriers and non-carriers when parental consanguinity was taken into consideration
18567944 Promoter hypermethylation of the BRCA1 gene was detected in 51% of our biopsies, among which 67% did not express the respective protein suggesting that hypermethylation could be considered as an inactivating mechanism for BRCA1 expression
18563556 Genes more highly expressed in BRCA1-associated tumors included stathmin, osteopontin, TGFbeta2 and Jagged 1
18559594 BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.
18559594 Observational study of gene-disease association. (HuGE Navigator)
18559571 There is a highly significant reduction in life expectancy in BRCA1 compared with BRCA2 carriers in ovarian cancer.
18559571 Observational study of gene-disease association. (HuGE Navigator)
18559551 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18558292 We analyzed the haplotypic profile of seven Brazilian carriers of 5382insC to characterize a possible founder effect of BRCA1 5382insC mutation
18546071 Large genomic rearrangements in BRCA1 and BRCA2 are common in East Denmark
18543099 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18538349 The promoter methylation status of a panel of critical growth regulatory genes, RASSF1A, RARbeta2, BRCA1 and HOXA5, in 54 breast cancers and 5 distant normal breast tissues of Indian patients, was analyzed.
18528753 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
18523885 TGFB1 L10P genotype does not modify the risk of breast cancer in BRCA1 or BRCA2 mutation carriers
18523885 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18521744 BRCA1 promoter methylation is an important factor to consider in predicting breast cancer survival.
18513387 Women who test positive for the familial BRCA1/BRCA2 mutation are likely to have cumulative breast cancer risks in keeping with the estimates obtained originally from large families. This is particularly true for women born after 1940.
18513387 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
18512148 Observational study of gene-disease association. (HuGE Navigator)
18509731 A case-control study is reported on infertility, treatment of infertility, and the risk of breast neoplasms among women with BRCA1 mutations.
18509731 Observational study of gene-disease association. (HuGE Navigator)
18501021 one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer in Finland
18500