Property Summary

NCBI Gene PubMed Count 230
PubMed Score 699.89
PubTator Score 526.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.100 1.7e-05
group 3 medulloblastoma 1.100 1.2e-02

Gene RIF (246)

PMID Text
26881680 MutY homolog Y165C and G382D mutations are not associated with cholangiocarinoma.
26511139 Expression of APC is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition, while for MUTYH gene, mutation is associated to reduced mRNA expression.
26446593 the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation
26377631 adenine glycosylase activity, mismatch recognition properties and interaction with protein partners of MUTYH and 5 MAP variants were examined; P502L and R520Q had reduced affinity for PCNA; only Q324H was found to have reduced affinity for Hus1
26273655 We demonstrated that the rs3219463 and rs3219476 polymorphisms in RA patients from a Taiwan Chinese population were associated with disease susceptibility. These data indicate that the MUTYH gene may play a role in the progression of RA.
26202870 A mutation in both a MUTYH and either a MLH1, MSH2 and PMS2 gene mutation is associated with colorectal cancer.
26074017 first study to show that SNPs of genes involved in DNA repair, may modulate the risk of Depressive Disorder.
26056087 Data suggest that detection of the c.34G>T KRAS transversion could imply biallelic germline mutY DNA glycosylase MUTYH mutation and lead to genetic counseling.
25998844 The results of this study suggested that the MUTYH gene polymorphisms may play an important role in the etiology of Alzheimer's Disease.
25916209 As well as MUTYH Tyr/Tyr and XPD Asp/Asn genotypes further increased the risk by 2.9.
25829257 Results showed that AluYb8MUTYH variant was associated with high level of altered mtDNA in type 2 diabetes mellitus patients that may have resulted from inefficient base excision repair of MUTYH and a mechanism trigerred by elevated oxidative stress.
25822476 MUTYH mutations are prevalent among Jews of North-African origin with colorectal adenomas.Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers among among Jews of North-African origin.
25820570 47 MUTYH gene variants (site-directed mutagenesis) were generated, the proteins expressed in MutY-disrupted E. coli, and assessed their abilities to complement the functional deficiency in the E. coli by monitoring spontaneous mutation rates.
25127721 These data reveal that human Rad9 interacts directly with N-terminal region of human MYH.
24953332 A proportion of unexplained LLS cases is caused by biallelic MUTYH mutations.
24799981 A heterozygous p.Arg19 * MUTYH variant and a heterozygous p.Arg109Trp MUTYH variant were detected in one patient each.
24620956 Individuals with biallelic MUTYH mutations in MUTYH-associated polyposis are under-ascertained based on both genotype and phenotype under current standard testing practices.
24569162 Findings indicate that the type of MUTYH mutation can affect the extent of genome instability associated with MUTYH inactivation.
24518836 Biallelic MUTYH mutations impair the base excision repair process and can result in somatic mutational inactivation of both DNA mismatch repair alleles mimicking Lynch syndrome by displaying a DNA mismatch repair deficient tumor.
24470512 We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps.
24444654 Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.
24443563 this study shows that MutYH is ubiquitinated in vitro and in vivo by the E3 ligase Mule between amino acids 475 and 535.
24420788 Monoallelic MUTYH hotspot mutations (p.G396D and p.Y179C) do not act as major genetic susceptibility factors causing a substantial CCA risk in the Caucasian population.
24377542 An association may exist between MUTYH and AE.
24377541 The 3 heterozygosity variants of MYH gene in a Chinese population.
24315136 Results show that MYH is a vital DNA repair enzyme that protects cells from oxidative DNA damage and is critical for a proper cellular response to DNA damage.
24209961 Report shows that the interdomain connector (IDC) of human MYH (hMYH) maintains interactions with hAPE1 and the human checkpoint clamp Rad9-Rad1-Hus1 (9-1-1) complex.
24039736 The rs3219489 SNP in the MUTYH gene was marginally significant in association with colorectal cancer susceptibility. [Meta-analysis]
23936466 the roles of the AluYb8MUTYH variant in impairing the mitochondrial base excision repair (mtBER) system
23618615 the decrease efficiency of DNA repair were correlated with the 399Gln/Gln XRCC1 and the 324His/His MUTYH genotypes occurrence in colorectal cancer patients
23605219 It is a component of a base excision repair system that protects the genomic information from oxidative damage.
23561487 This first comprehensive investigation of the APC and MUTYH mutation spectrum in Brazilian polyposis patients showed a high detection rate and identified novel pathogenic mutations
23499241 The 326His allele of the MUTYH gene may increase the risk for primary open-angle glaucoma progression. The 324 Gln/His MUTYH polymorphism may be associated with its progression.
23396182 The risk of type 2 diabetes in the Chinese population is increased from the combined effects of AluYb8MUTYH with either hMTH1 c.247G>A or variants in the 5\'-UTR of the hOGG1.
23361220 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
23322991 p.R154H, p.M255V, p.L360P, and p.P377L MUTYH variants have suppressive activities against mutations caused by 8OHG are thought to be severely impaired in human cells
23108399 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.
23007840 contribution of bi-allelic MUTYH mutations to the development of colorectal cancer (CRC) in Dutch non-polyposis patients that meet clinical genetic referral criteria, and to the development of low number of colorectal adenomas in non-CRC patients, is likely to be low [review]
22976915 Both MutY homologue and adenomatous polyposis coli genes are implicated in attenuated familial adenomatous polyposis, though the role of MUTYH is of considerably greater relevance.
22926731 Cancer-associated variants and polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage.
22865608 The notion that MUTYH c.933+3A>C alters splicing causing the synthesis of a non functional protein.
22851115 Among patients with multiple colorectal adenomas, pathogenic APC and MUTYH mutation prevalence varied considerably by adenoma count, including within those with a classic polyposis phenotype.
22809968 In 2 of 13 patients from among 197 families with hyperplastic colonic polyps, monoallelic MUTYH G382D mutations were found. One of these patients also had an APC mutation.
22780951 As predictors of mortality, plasma IL-1b and IL-6 levels were significantly higher in the hemodialysis patients than the healthy controls, and the increases were associated with the MUTYH c.972G > C and AluYb8MUTYH polymorphisms.
22744763 the high prevalence of the p.Glu410GlyfsX43 mutation in Tunisian families affected with MUTYH associated polyposis as well as in sporadic colorectal carcinoma
22641385 Somatic alterations of MUTYH in sporadic CRC were rare, similar to other DNA repair genes. Unknown mutations of regions not analyzed in this study and epigenetic changes of the promoter region of MUTYH may contribute to the disease.
22473953 MUTYH expression differed organ dependently, correlating with proliferative activity.Five transcripts were found to encode the biologically relevant products of the MUTYH gene.
22469746 Our findings suggest that the c.977C>G-hOGG1 polymorphism may be associated with dry AMD. Further studies are needed to determine possible association between AMD and the c.972G>C-MUTYH polymorphism.
22469480 Patients compound heterozygous for MUTYH pathogenic mutations and the p.Q338H variant may be at increased risk for mild polyposis or colorectal cancer.
22371070 the prevalence of the two commonly described founder mutations in MUTYH, G396D and Y179C, in two Jewish ethnic groups and in Israeli Arabs and the risk of colorectal cancer
22297469 Minor allele genotypes of several MUTYH variants show trends towards association with lobular breast cancer histology.
22266422 First mutations in the MYH gene reported in Moroccan colon cancer patients.
22126480 A common polymorphism of the AluYb8 insertion in the MUTYH gene can be associated with the early-onset breast and gastric cancer in the Chinese population.
22103048 MUTYH is the second adenomatous polyposis-related gene and is involved with base-excision repair of DNA damaged by oxidative stress.
21962078 Large deletions are a possible mechanism for loss of function of the MUTYH gene, and investigation of such mutations may be important in identifying causative mutations in MUTYH-associated polyposis.
21952991 Carriers of variants in MutYH, although not very common, may have an increased risk of breast cancer in Jews of North African origin
21901162 Analysis supports the observation that germline MUTYH mutations are rare in Czech individuals with sporadic colorectal cancer.
21846783 The high risk of developing colorectal cancer in patients with MUTYH-associated polyposis may suggest an accelerated carcinogenesis.
21826668 These results suggested that MUTYH is a suppressor of mutations caused by 8OHG in gastric cells and that its reduced expression is associated with a poor prognosis in gastric cancer.
21777424 Results show that all MUTYH sequence variations, including G > C and A > T homozygous changes, can be reliably identified by HRMA.
21615992 These results suggest that human MutY homolog may interact with ATR and function as a mediator of Chk1 phosphorylation in response to DNA damage.
21443744 Frequent mutation in North African patients with MUTYH-associated polyposis.
21424714 Biallelic germline MUTYH mutations were identified in 4 of 60 (6.6%) patients with a phenotype of hereditary colorectal cancer.
21355073 Two rare variants (OGG1 c.137G>A; MUTYH c.1187G>A) and one common polymorphism (NUDT1 c.426C>T) were associated with colorectal cancer risk.
21287799 MUTYH sequencing was found to be beneficial in evaluating APC-negative patients with colorectal adenomas.
21279954 no significant associations were observed between the Y165C, G382D and V479F MUTYH mutations and risk of melanoma development or aggressiveness
21171015 Monoallelic MUTYH mutation carriers with a family history of colorectal cancer (CRC), such as those identified from screening multiple-case CRC families, are at increased risk of colorectal, gastric, endometrial and possibly liver cancers.
21112374 Data suggest that the AluYb8MUTYH polymorphism could be a novel genetic risk factor for type 2 diabetes, and accumulated 8-OHdG could contribute to this disease.
21063410 inactivation of the MUTYH gene is a recessive risk factor for colorectal cancer.
21063410 Meta-analysis of gene-disease association. (HuGE Navigator)
21061173 Monoallelic MUTYH mutation is associated with colorectal cancer.
21061173 Observational study of gene-disease association. (HuGE Navigator)
21044966 Observational study of gene-disease association. (HuGE Navigator)
20939750 The present study was carried out among the Moroccan population, using molecular epidemiology methods, to estimate the prevalence of homozygote or compound heterozygote genotype conferring MYH-associated polyposis.
20939750 Observational study of genotype prevalence. (HuGE Navigator)
20924129 The findings prompt the inclusion of MUTYH screening as part of the genetic counseling of these patients and their relatives.
20924072 APC/MUTYH mutations were detected in 107 families
20924072 Observational study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20848659 prepared highly homogeneous human MUTYH type 2 recombinant proteins and compared the DNA glycosylase activity of the wild-type protein and fourteen variant-type proteins on adenine mispaired with 8-hydroxyguanine
20725929 We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide.
20724227 Phosphorylation of Ser 524 in MUTYH alters proteins stability and OG:A mismatch affinity.
20687945 MUTYH germline mutations are associated with colorectal cancer.
20687945 Observational study of gene-disease association. (HuGE Navigator)
20663686 REVIEW: the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors
20640893 MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.
20628285 MUTYH mutation is possibly associated with a relatively severe MUTYH-associated polyposis phenotype, highlighted by early-onset colorectal cancer.
20625837 germline MUTYH mutations are associated with papillary thyroid cancer and polyposis.
20618354 In adenomatous polyposis coli mutation-negative patients authors found MUTYH mutations in 15% of the cases in biallelic and in 3.7% of the cases in monoallelic constellation. Most of the mutations were missense mutations.
20618354 Observational study of gene-disease association. (HuGE Navigator)
20574454 Observational study of gene-disease association. (HuGE Navigator)
20571908 MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms may have a role in head neck cancer susceptibility
20571908 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20570909 Observational study of gene-disease association. (HuGE Navigator)
20522537 Observational study of gene-disease association. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20418187 the association/dissociation of wild-type and MUTYH variants from an 8-oxoG:A DNA substrate
20364408 The aim of this study was to evaluate the association of polymorphisms in genes encoding three proteins of DNA base excision repair, the OGG1 Ser326Cys, the MUTYH Tyr165Cys and the XRCC1 Arg399Gln with the risk of childhood acute lymphoblastic leukemia.
20364408 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20226869 Observational study of gene-disease association. (HuGE Navigator)
20191381 Heterozygous MUTYH mutations are associated with families that include both breast cancer patients and colorectal cancer patients, independent of which tumour type is more prevalent in the family.
20191381 Observational study of gene-disease association. (HuGE Navigator)
20150366 Observational study of gene-disease association. (HuGE Navigator)
20149637 Observational study of gene-disease association. (HuGE Navigator)
20110747 Despite their association with somatic K-ras mutations and an increased risk of colorectal cancer in MUTYH-associated polyposis patients, MUTYH exon 7 and 13 mutations were not associated with pancreatic cancer in this cohort.
20110747 Observational study of gene-disease association. (HuGE Navigator)
19953527 Aim of this study was to characterize the biological effects, in a mammalian cell background, of human MUTYH mutations identified in MUTYH-associated polyposis patients
19932167 Mutation of the MYH gene is associated with increased DNA oxidation and age-related diseases.
19902366 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19836313 ability of MUTYH and the variants to suppress mutations and complement for the absence of MutY in Escherichia coli was assessed using rifampicin resistance assays.
19820168 observe specific recruitment of MUTYH, DNA pol lambda, proliferating cell nuclear antigen (PCNA), flap endonuclease 1 (FEN1) and DNA ligases I and III from human cell extracts to A:8-oxo-G DNA, but not to undamaged DNA.
19793053 APC or MUTYH mutations were detected in 42/48 (88%), 14/20 (70%) and 10/38 (26%) of familial adenomatous polyposis, attenuated familial adenomatous polyposis and multiple colorectal adenomas patients, respectively.
19732775 The relative risks for several extraintestinal malignancies increased in patients with MUTYH-associated polyposis.
19692168 Observational study of gene-disease association. (HuGE Navigator)
19685280 Colorectal cancer patients carrying monoallelic MUTYH mutations harbor more frequently concomitant MSH6 mutations than patients without them
19685280 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19672709 Case Report: Report 14 years of colonoscopic surveillance of a patient with MUTYH-associated polyposis.
19620482 biallelic MUTYH mutation confers a significantly increased risk of developing colorectal cancer.
19620482 Observational study of gene-disease association. (HuGE Navigator)
19593690 At least two genes are associated with the FAP phenotype. APC mutations account for the majority of cases, while MUTYH mutations can be observed in 10% of patients.
19593690 Observational study of gene-disease association. (HuGE Navigator)
19531215 a family history of vertical transmission of colorectal cancer did not rule out the possibility of biallelic MUTYH mutations
19531215 Observational study of gene-disease association. (HuGE Navigator)
19527492 Observational study of gene-disease association. (HuGE Navigator)
19443904 The hMYH R260Q mutant had severe defect in adenine DNA glycosylase activity, whereas hMYH H434D could excise adenines from A:8oxoG pairs but not from A:G mispairs.
19399402 Expression of HBx gene in transfected cells caused an increase in MYHalpha expression.
19394335 Risk of colorectal cancer in heterozygous carriers of single MUTYH mutations who are relatives of patients with MAP is comparable with that of first-degree relatives of patients with sporadic colorectal cancer.
19394335 Observational study of gene-disease association. (HuGE Navigator)
19338676 Observational study of gene-disease association. (HuGE Navigator)
19307499 Observational study of gene-disease association. (HuGE Navigator)
19300419 The study reports an association between head and neck cancer risk and the Tyr165Tyr variant of the MUTYH gene (OR 2.18; 95% CI 1.19-3.97).
19300419 Observational study of gene-disease association. (HuGE Navigator)
19279422 11 MUTYH gene mutations have been identified in 7 patients without a dominant family history of polyposis.
19279422 Observational study of gene-disease association. (HuGE Navigator)
19245865 Patients with heterozygous MYH mutations are at increased risk of colorectal cancer.
19245865 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19161591 MUTYH Gln324His polymorphism appear to play an important role in modifying the risk for lung cancer in the Japanese population.
19161591 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19032956 Phenotypic effects of Y179C mutations in the base excision DNA repair gene MUTYH are relatively severe and of G396D mutation are relatively mild in MUTYH-associated polyposis.
19032956 Observational study of gene-disease association. (HuGE Navigator)
19029194 Observational study of gene-disease association. (HuGE Navigator)
19000687 Germline MYH mutations are responsible for as many as 40% of cases with attenuated familial adenomatous polyposis without mutations in the APC gene, specially in those cases with a recessive family history.
18980800 report on two additional unrelated MAP patients with biallelic MUTYH germline mutations who developed endometrioid endometrial carcinoma
18848840 Single nucleotide polymorphisms (SNPs) in hMTH1, hOGG1 and hMYH genes are associated with risk of chronic benzene poisoning.
18848840 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18823566 The MUTYH Gln324His is strongly associated with colorectal cancer susceptibility in never smoking history.
18823566 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18811933 The haplotype variant allele of hMYH leads to a missense protein, which partly affects the protein mitochondrial transportation and results as nuclear localization and increases susceptibility to cancers, including colorectal cancer.
18811933 Observational study of gene-disease association. (HuGE Navigator)
18776649 These results suggest that the single nucleotide polymorphisms of OGG1 and MTH1 may be cause of 8-hydroxy-2'-deoxyguanosine accumulation in the gastric mucosa.
18612690 Observational study of gene-disease association. (HuGE Navigator)
18564191 Neither pathological features nor immunohistochemistry could predict the MYH mutation status of colorectal carcinomas in this study.
18534194 This study of MUTYH mutants suggests that certain SNPs may be as partially dysfunctional in base excision repair as missense-MUTYH mutants and lead to colorectal carcinogenesis.
18515411 Multiple rare alleles of MUTYH are associated with autosomal recessive MAP, while OGG1, NEIL1, NEIL2, NEIL3, NUDT1 and NTH1 do not contribute significantly to autosomal recessive polyposis.
18515411 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18503156 the prevalence of pathogenic MUTYH mutations was increased among familial colorectal cancer patients compared to sporadic colorectal cancer and controls
18503156 Observational study of gene-disease association. (HuGE Navigator)
18495334 The role of MYH gene in genetic predisposition to colorectal cancer.
18454351 Carriers of the MYH Y165C or G382D mutant alleles do not appear to be at increased risk for breast cancer
18454351 Observational study of gene-disease association. (HuGE Navigator)
18422726 Seven MUTYH variants were identified in 16 of 21 APC-negative patients.Homozygous MUTYH mutation accounts for approximately 10% of Japanese patients with adenomatous polyposis.
18422726 Observational study of gene-disease association. (HuGE Navigator)
18383848 The high frequency of splicing aberration in cancer tissues suggests that aberrant transcripts of hMYH may be involved in gastric carcinogenesis and cancer development.
18301448 The frequency of MUTYH mutations was not significantly higher in HNPCC MSH6 mutation carriers than in healthy controls.
18301448 Observational study of gene-disease association. (HuGE Navigator)
18298557 Mutations in MUTYH gene are found to cause an autosomal recessive syndrome characterized by multiple colorectal adenomas and increased risk of colorectal cancer; initial directed analysis of MUTYH looks for two common mutations Tyr165Cys and Gly382Asp.
18294051 Observational study of genotype prevalence. (HuGE Navigator)
18271935 four MUTYH SNPs, IVS1+11C > T, IVS6+35G > A, IVS10-2A > G, and 972G > C (Gln324His), for an association with increased CRC risk in a population-based series of 685 colorectal cancer patients and 778 control subjects from Kyushu, Japan.
18271935 Observational study of gene-disease association. (HuGE Navigator)
18186383 study reports a case of siblings with identical germline mutations in the MYH gene, one of whom developed a locally advanced colon adenocarcinoma with few other adenomatous lesions, whereas the other had numerous benign colonic polyps
18172263 KRAS2 c.34G > T somatic prescreening, followed by MUTYH hotspot mutation analysis when positive, can identify patients with (atypical) MUTYH-associated polyposis
18172263 Observational study of genotype prevalence. (HuGE Navigator)
18155253 Observational study of gene-disease association. (HuGE Navigator)
18091433 Observational study of gene-disease association. (HuGE Navigator)
18027849 investigate the possible role of germline hypermethylation of the APC promoter in FAP and AFAP families that were negative for APC and MUTYH mutations
18022921 study describes for the first time the association of the MutYH mutation with sporadic colorectal cancer in Tunisian patients; two of forty-eight patients showed somatic mutation of the MutYH gene
17956577 bi-allelic germline mutations in MYH may increase susceptibility to endometrial cancer
17949294 Heterozygous and homozygous MYH mutation carriers were both at high risk for synchronous cancers, but did not demonstrate an increased risk for extradigestive tumors.
17931073 heterozygous MUTYH mutations do not play a major role in sporadic colorectal carcinogenesis although a modest effect on this process cannot be ruled out.
17931073 Observational study of gene-disease association. (HuGE Navigator)
17920897 summary of basic information on MYH mutations and colon cancer predisposition [review]
17703316 Observational study of gene-disease association. (HuGE Navigator)
17703316 The present study investigated germline mutations of the MYH gene among patients with 10 to 99 adenomatous colorectal polyps and familial adenomatous polyposis (FAP) without adenomatous polyposis coli (APC) germline mutations in Korea.
17674103 MYH mutations have been observed in one-third of patients with attenuated polyposis
17505512 No germline mutations in MUTYH in Multiple colorectal adenoma.
17489848 Observational study of genotype prevalence. (HuGE Navigator)
17489848 the presence of germline mutations in the MUTYH genes in attenuated familial adenomatous polyposis.
17417778 Observational study of gene-disease association. (HuGE Navigator)
17252231 Two novel mutations of MYH and a novel OGG1 polymorphism seemed to be associated with multiple colorectal adenomas in Korean families.
17220334 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
17219385 germline MYH mutations (by dHPLCO) in 20 clinic-based multiple adenoma patients who were adenomatous polyposis coli (APC) mutation-negative.
17219200 MYH mutations are unlikely to contribute to prostate cancer risk.
17207658 Observational study of gene-disease association. (HuGE Navigator)
17203305 Observational study of gene-disease association. (HuGE Navigator)
17081686 characterization of one newly identified MYH-associated polyposis MYH missense mutation (R231L) that lies adjacent to the putative hMSH6 binding domain; the mutant protein has severe defects in A/GO binding & adenine glycosylase activities
17039270 MSH6/MUTYH heterozygote mutation carriers display a predominant HNPCC molecular tumour phenotype, with microsatellite instability and underrepresentation of G>T transversions.
17031395 Biallelic germline mutation of MYH in colorectal cancer also demonstrated microsatellite instability as a result of biallelic hypermethylation of the MLH1 promoter.
16941501 Results show high frequency of MUTYH mutations in patients with multiple polyposis.
16938257 Colorectal cancer has an important genetic component. Colorectal polyposis associated with mutations in the MYH gene is an autosomal recessive syndrome characterized by the development of colorectal adenomas and cancer.
16890597 Patients with biallelic MYH mutations showed disappearance of staining from the nucleus, and segregation of immunoreactivity in the cytoplasm, both in neoplastic and surrounding healthy mucosa.
16831587 Mutations in MBD4 are unlikely to be implicated in HPS; MYH mutations should be studied, especially when adenomas occur in the same patient.
16804517 Observational study of gene-disease association. (HuGE Navigator)
16804517 Mutations in the MUTYH gene have been reported to be associated with increased risk of developing colorectal cancer. This study underscores the need for large sample sizes in order to identify small gene effects when the disease allele frequency is low.
16774938 low-penetrance alleles of MYH are enriched in MMR gene mutation-negative colon cancer families
16773329 Our results suggest that hMUTYH might be a useful marker of oxidative stress and that oxidative stress and genomic instability are important in the PD disease process.
16645203 Observational study of gene-disease association. (HuGE Navigator)
16609022 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16600130 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
16557584 biallelic MUTYH mutations are the underlying genetic basis in a substantial fraction of patients with adenomatous polyposis
16521226 Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korean population.
16492928 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16408224 Observational study of gene-disease association. (HuGE Navigator)
16408224 Results warrant further study to test the hypothesis of mutations in MMR genes (in particular MSH6) and MUTYH acting together to increase cancer risk.
16292541 there was no significant difference in MYH mutation carrier status between patients with hepatocellular carcinoma, cholangiocarcinoma, and non-cancerous controls
16287072 Observational study of gene-disease association. (HuGE Navigator)
16134146 Observational study of gene-disease association. (HuGE Navigator)
16042573 normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine in familial adenomatous polyposis
15943555 Observational study of gene-disease association. (HuGE Navigator)
15931596 Observational study of gene-disease association. (HuGE Navigator)
15931596 These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life.
15890374 Observational study of genotype prevalence. (HuGE Navigator)
15890374 Germ-line mutations of the MYH gene were studied in Japanese patients with multiple colorectal adenomas.
15761860 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15673720 Pathogenic mechanisms underlying two hMYH polyposis-associated mutations.
15635083 Mutation spectrum for MYH by direct DNA sequencing in 219 anonymous North Americans in genetic testing for polyposis colorectal cancer.
15523092 Observational study of gene-disease association. (HuGE Navigator)
15523092 Loss of heterozygosity in at least one of four loci in MYH was detected in eight (47%) of 17 colorectal tumors from monoallelic MYH gene mutation carriers but in only two (20%) of 10 colorectal tumors from biallelic MYH gene mutation carriers.
15450125 Increased expression of the DNA glycosylase repair enzyme hMYH in A549 cells exposed to O2 and IR leads to improvements in cell survival.
15449173 Observational study of gene-disease association. (HuGE Navigator)
15366000 Observational study of genotype prevalence. (HuGE Navigator)
15366000 3 new mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) are described.
15290654 MYH mutations cause multiple adenomas of the GI tract and seem to act by increasing the frequency of somatic APC mutations.
15273732 data suggest that somatic mutations of base excision repair gene MYH contribute to the development of a sub-set of sporadic gastric cancers
15236166 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
15188161 patients with MYH-associated adenomatous polyposis were either apparently sporadic cases or had a family history consistent with recessive inheritance
15034862 Transversions in KRAS2 or APC are more common in colorectal cancers with single germ-line MYH variants than colorectal cancers with wild-type MYH.
14999774 Observational study of gene-disease association. (HuGE Navigator)
14999774 MYH-associated polyposis(MAP) is present in about 20% of Italian FAP/AAPC patients, and in some patients with colorectal adenomas in the general population. Mutation 1395delGGA is a subpolymorphic MYH mutational event in some Caucasian populations.
14991577 Biallelic MYH mutations confer susceptibility to colorectal cancer
12966098 MutY phosphorylation is defective in human colorectal cancer cell lines with wild-type MutY alleles
12807753 OGG1 and MYH function as suppressors for G:C to T:A transversions by 8OHG but not by BPDE in human cells.
12707038 Germline mutations but not somatic changes at this locus contribute to the pathogenesis of unselected colorectal cancers.
12393807 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations
12056405 effect of a single nucleotide polymorphism (SNP) in the MYH gene on the difference in the expression levels of its products
11805113 Functional interaction of MutY homolog with proliferating cell nuclear antigen in fission yeast (and in human)
11801590 interaction with mismatch repair proteins MutS homolog 2/MutS homolog 6

AA Sequence

MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGAPAGLARQPE      1 - 70
EVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVA     71 - 140
TVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLP    141 - 210
GVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAM    211 - 280
ELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTL    281 - 350
GVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQE    351 - 420
LQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKV    421 - 490
FRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ                  491 - 546
//

Text Mined References (229)

PMID Year Title
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26446593 2016 Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
26377631 2015 Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1.
26273655 2015 MUTYH Gene Polymorphisms as Risk Factors for Rheumatoid Arthritis.
26202870 2015 Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.
26074017 2015 Association between single nucleotide polymorphisms of MUTYH, hOGG1 and NEIL1 genes, and depression.
26056087 Somatic c.34G>T KRAS mutation: a new prescreening test for MUTYH-associated polyposis?
25998844 2015 Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Disease Risk.
25916209 2015 XPD, APE1, and MUTYH polymorphisms increase head and neck cancer risk: effect of gene-gene and gene-environment interactions.
25829257 2015 Association of AluYb8 insertion/deletion polymorphism in the MUTYH gene with mtDNA maintain in the type 2 diabetes mellitus patients.
25822476 2015 Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African Jews.
25820570 2015 Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
25416956 2014 A proteome-scale map of the human interactome network.
25127721 2014 Visualization of the physical and functional interaction between hMYH and hRad9 by Dronpa bimolecular fluorescence complementation.
24953332 2014 Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
24799981 2014 Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.
24620956 2015 Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis.
24569162 2014 Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.
24518836 2014 Biallelic MUTYH mutations can mimic Lynch syndrome.
24470512 2014 Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.
24444654 2014 Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
24443563 2014 Regulation of human MutYH DNA glycosylase by the E3 ubiquitin ligase mule.
24420788 2014 The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancer.
24377542 2013 MUTYH association with esophageal adenocarcinoma in a Han Chinese population.
24377541 2013 Role of MYH polymorphisms in sporadic colorectal cancer in China: a case-control, population-based study.
24315136 2014 Mammalian MutY homolog (MYH or MUTYH) protects cells from oxidative DNA damage.
24209961 2013 Coordination of MYH DNA glycosylase and APE1 endonuclease activities via physical interactions.
24039736 2013 Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.
23936466 2013 The polymorphic AluYb8 insertion in the MUTYH gene is associated with reduced type 1 protein expression and reduced mitochondrial DNA content.
23618615 An association selected polymorphisms of XRCC1, OGG1 and MUTYH gene and the level of efficiency oxidative DNA damage repair with a risk of colorectal cancer.
23605219 2014 MUTYH-associated colorectal cancer and adenomatous polyposis.
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23396182 2013 Combined analysis of polymorphism variants in hMTH1, hOGG1 and MUTYH genes on the risk of type 2 diabetes in the Chinese population.
23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
23322991 2012 Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.
23108399 2013 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.
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22865608 2013 MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
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22780951 2012 Base excision repair gene polymorphisms are associated with inflammation in patients undergoing chronic hemodialysis.
22744763 2012 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
22641385 2012 Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer.
22473953 2012 MUTYH gene expression and alternative splicing in controls and polyposis patients.
22469746 2012 Association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and age-related macular degeneration.
22469480 2012 MUTYH hotspot mutations in unselected colonoscopy patients.
22371070 2012 Common MUTYH mutations and colorectal cancer risk in multiethnic populations.
22297469 2012 MUTYH gene variants and breast cancer in a Dutch case–control study.
22266422 2012 The first mutations in the MYH gene reported in Moroccan colon cancer patients.
22126480 2011 AluYb8 insertion in the MUTYH gene and risk of early-onset breast and gastric cancers in the Chinese population.
22103048 2011 The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).
21962078 2011 Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.
21952991 2012 MutYH mutation carriers have increased breast cancer risk.
21901162 2011 Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.
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21826668 2011 Reduced expression of MUTYH with suppressive activity against mutations caused by 8-hydroxyguanine is a novel predictor of a poor prognosis in human gastric cancer.
21777424 2011 High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene.
21615992 2011 Knock-down of human MutY homolog (hMYH) decreases phosphorylation of checkpoint kinase 1 (Chk1) induced by hydroxyurea and UV treatment.
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21424714 2011 Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.
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21287799 2010 A protocol for genetic evaluation of patients with multiple colorectal adenomas and without evidence of APC gene mutation.
21279954 Common genetic variants of MUTYH are not associated with cutaneous malignant melanoma: application of molecular screening by means of high-resolution melting technique in a pilot case-control study.
21171015 2011 Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.
21112374 2011 AluYb8 insertion in the MUTYH gene is related to increased 8-OHdG in genomic DNA and could be a risk factor for type 2 diabetes in a Chinese population.
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20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20725929 2010 Leiden Open Variation Database of the MUTYH gene.
20724227 2010 Ser 524 is a phosphorylation site in MUTYH and Ser 524 mutations alter 8-oxoguanine (OG): a mismatch recognition.
20687945 2010 Simplifying the detection of MUTYH mutations by high resolution melting analysis.
20663686 2011 MUTYH-associated polyposis (MAP).
20640893 2010 MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.
20628285 2010 An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer.
20625837 2010 Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP).
20618354 2010 MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
20574454 2010 Polymorphisms in the base excision repair pathway and graft-versus-host disease.
20571908 2011 MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study.
20570909 2010 Increased cancer predisposition in family members of colorectal cancer patients harboring the p.V600E BRAF mutation: a population-based study.
20522537 2010 Variation within DNA repair pathway genes and risk of multiple sclerosis.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20418187 2010 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
20364408 2011 The association of polymorphisms in DNA base excision repair genes XRCC1, OGG1 and MUTYH with the risk of childhood acute lymphoblastic leukemia.
20226869 2010 Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations.
20191381 2010 Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
20150366 2010 DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma.
20149637 2010 Common variants in human CRC genes as low-risk alleles.
20110747 2009 MUTYH exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer.
19953527 2010 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
19932167 2010 A common mutation of the MYH gene is associated with increased DNA oxidation and age-related diseases.
19902366 2010 Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study.
19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
19820168 2009 An 8-oxo-guanine repair pathway coordinated by MUTYH glycosylase and DNA polymerase lambda.
19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19685280 2009 Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.
19672709 2010 Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development.
19620482 2009 Clinical implications of the colorectal cancer risk associated with MUTYH mutation.
19593690 2009 Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis.
19531215 2009 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
19527492 2009 Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.
19443904 2009 Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma.
19399402 2009 The effects of HBx gene on the expression of DNA repair enzymes hOGG1 and hMYHalpha mRNA in HepG2 cells.
19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
19338676 2009 Genetic variants in MUTYH are not associated with endometrial cancer risk.
19307499 2009 Implications of familial colorectal cancer risk profiles and microsatellite instability status.
19300419 2009 Polymorphisms of the DNA base excision repair gene MUTYH in head and neck cancer.
19279422 2009 Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.
19245865 2009 Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.
19161591 2009 MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population.
19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
19029194 2009 Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.
19000687 2008 MYH-associated polyposis: adenomas and hyperplastic polyps, partners in crime?
18980800 2009 Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations.
18848840 2008 Genetic polymorphisms in hMTH1, hOGG1 and hMYH and risk of chronic benzene poisoning in a Chinese occupational population.
18823566 2008 Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.
18811933 2008 A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.
18776649 2008 OGG1, MYH and MTH1 gene variants identified in gastric cancer patients exhibiting both 8-hydroxy-2'-deoxyguanosine accumulation and low inflammatory cell infiltration in their gastric mucosa.
18612690 2008 Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.
18564191 2008 Pathological features of colorectal carcinomas in MYH-associated polyposis.
18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
18515411 2008 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
18503156 2008 Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer.
18495334 2008 The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle.
18454351 2009 Mutations of the MYH gene do not substantially contribute to the risk of breast cancer.
18422726 2008 Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.
18383848 Frequent splicing aberration of the base excision repair gene hMYH in human gastric cancer.
18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
18298557 2008 Management of MUTYH-associated neoplasia in Australia.
18294051 2007 The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.
18271935 2008 Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population.
18186383 2007 Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis.
18172263 2008 Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.
18155253 2008 OGG1 expression and OGG1 Ser326Cys polymorphism and risk of lung cancer in a prospective study.
18091433 2007 Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18027849 2008 Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families.
18022921 2007 Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer.
17956577 2007 Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.
17949294 2007 Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.
17931073 2007 The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.
17920897 2007 Recently identified colon cancer predispositions: MYH and MSH6 mutations.
17703316 2007 Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.
17674103 2007 Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.
17505512 2007 Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
17489848 2007 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
17417778 2007 Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.
17252231 2007 MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas.
17220334 2007 High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.
17219385 2007 Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.
17219200 2007 MYH mutations are rare in prostate cancer.
17207658 2007 Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas.
17203305 2007 Genetic variation in the base excision repair pathway and bladder cancer risk.
17081686 2007 Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis.
17039270 2007 The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.
17031395 2006 The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.
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16890597 2006 Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.
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16804517 2006 Association of MUTYH and colorectal cancer.
16774938 2006 Increased frequency of disease-causing MYH mutations in colon cancer families.
16773329 2006 Up-regulation of hMUTYH, a DNA repair enzyme, in the mitochondria of substantia nigra in Parkinson's disease.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16645203 2006 Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH.
16609022 2006 Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer.
16600130 2006 [Relationship between genetic polymorphism in hMTH1c.83, hOGG1c.326 and hMYHc.335 and risks of chronic benzene poisoning].
16557584 2006 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
16521226 2006 Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea.
16492928 2006 Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer.
16408224 2006 MUTYH and the mismatch repair system: partners in crime?
16292541 2006 MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients.
16287072 2006 Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
16134146 2005 A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.
16042573 2005 MutYH (MYH) and colorectal cancer.
15943555 2005 Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer.
15931596 2005 Germline susceptibility to colorectal cancer due to base-excision repair gene defects.
15890374 2005 Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.
15761860 2005 Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.
15690400 2005 A kindred with MYH-associated polyposis and pilomatricomas.
15673720 2005 Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis.
15635083 2005 The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.
15523092 2004 Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15450125 2004 Protection of pulmonary epithelial cells from oxidative stress by hMYH adenine glycosylase.
15449173 2004 Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients.
15366000 2004 Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
15290654 2004 The multiple colorectal adenoma phenotype and MYH, a base excision repair gene.
15273732 2004 Genetic alterations of the MYH gene in gastric cancer.
15236166 2004 MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.
15188161 2004 High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15034862 2004 Role of inherited defects of MYH in the development of sporadic colorectal cancer.
14999774 2004 Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
14991577 2004 Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.
14961129 2004 Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase.
12966098 2003 Defective human MutY phosphorylation exists in colorectal cancer cell lines with wild-type MutY alleles.
12853198 2003 Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
12807753 2003 Suppressive activities of OGG1 and MYH proteins against G:C to T:A mutations caused by 8-hydroxyguanine but not by benzo[a]pyrene diol epoxide in human cells in vivo.
12707038 2003 Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
12606733 2003 Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12393807 2002 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.
12056405 2002 A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts.
11818965 2002 Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
11805113 2002 Functional interaction of MutY homolog with proliferating cell nuclear antigen in fission yeast, Schizosaccharomyces pombe.
11801590 2002 Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6.
11554314 2001 Regulation of intracellular localization of human MTH1, OGG1, and MYH proteins for repair of oxidative DNA damage.
11092888 2001 Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair.
10684930 2000 Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria.
10583946 1999 Quality control by DNA repair.
10471731 1999 Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase.
9611236 1998 Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage.
8682794 1996 Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage.
7823963 1995 Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.
3196692 1988 Characterization of cDNAs, mRNAs, and proteins related to human liver microsomal cytochrome P-450 (S)-mephenytoin 4'-hydroxylase.
3032244 1987 Cloning and sequence determination of a complementary DNA related to human liver microsomal cytochrome P-450 S-mephenytoin 4-hydroxylase.