Property Summary

NCBI Gene PubMed Count 1,399
Grant Count 1,087
R01 Count 514
Funding $184,838,038.82
PubMed Score 2495.56
PubTator Score 3142.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (54)

Disease Z-score Confidence
Cancer 2,346 6.971 3.5
Hereditary breast ovarian cancer 6 5.722 2.9
Lynch syndrome 33 4.64 2.3
Li-Fraumeni Syndrome 13 4.519 2.3
Anemia 252 4.482 2.2
Peutz-Jeghers syndrome 23 3.984 2.0
ductal carcinoma in situ 1,745 3.893 1.9
Cowden disease 16 3.556 1.8
Dysplastic nevus syndrome 7 3.469 1.7
Lobular neoplasia 15 3.458 1.7
Ataxia telangiectasia 31 3.408 1.7
Premature menopause 7 3.092 1.5
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPT... 1 
Breast Cancer, Familial 12
Breast cancer 3,094 2.0
Carcinoma 2,147 1.0
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 1
Fanconi Anemia 19
Fanconi's anemia 50 4.0
GLIOMA SUSCEPTIBILITY 3 1
Glioma 65
Hereditary Breast and Ovarian Cancer Syn... 14 
Lung Neoplasms 171
Malignant neoplasm of breast 63
Malignant neoplasm of lung 16
Malignant neoplasm of ovary 13
Malignant neoplasm of prostate 67
Mammary Neoplasms 410
Neoplastic Syndromes, Hereditary 48
Nephroblastoma 45
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 1
PITUITARY DWARFISM I 6
Pancreatic Neoplasm 79
Pancreatic carcinoma, familial 8
Peripheral Neuropathy 303
Prostate cancer 172 5.0
Prostate cancer, familial 13
Prostatic Neoplasms 471
Squamous Cell Neoplasms 3
atypical teratoid/rhabdoid tumor 1,095
colon cancer 1,475
glioblastoma 5,572
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
non primary Sjogren syndrome sicca 840
osteosarcoma 7,933
ovarian neoplasm 97
pediatric high grade glioma 2,712
primitive neuroectodermal tumor 3,031
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 3.900 0.000
osteosarcoma 1.478 0.025
glioblastoma 1.500 0.000
sonic hedgehog group medulloblastoma 2.200 0.000
atypical teratoid/rhabdoid tumor 1.800 0.000
medulloblastoma, large-cell 2.100 0.000
primitive neuroectodermal tumor 1.900 0.000
colon cancer 2.300 0.036
lung cancer 1.500 0.004
pediatric high grade glioma 1.400 0.000
non primary Sjogren syndrome sicca -1.100 0.024
lung carcinoma -1.100 0.000
psoriasis 1.300 0.000

Synonym

Accession P51587 O00183 O15008 Q13879 Q5TBJ7
Symbols FAD
FACD
FAD1
GLM3
BRCC2
FANCD
PNCA2
FANCD1
XRCC11
BROVCA2

Gene

PDB

3EU7   1N0W  

Gene RIF (1482)

PMID Text
27002934 BRCA2 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.
26979245 The rs144848 mutation of BRCA2 may have a protective effect against lung cancer among women
26976601 BRCA2 protein stimulates DMC1-mediated DNA strand exchange between RPA-ssDNA complexes and duplex DNA, thus identifying BRCA2 as a mediator of DMC1 recombination function.
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
26859126 BRCA2 germ-line mutation is associated with neoplasm recurrence in breast cancer patients.
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
26842001 Lung adenocarcinomas in both male and female patients were associated with (a) genotypic polymorphisms of FANCC and FANCD1.
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AA Sequence

MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPS      1 - 70
YNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCPLLNSCLS     71 - 140
ESPVVLQCTHVTPQRDKSVVCGSLFHTPKFVKGRQTPKHISESLGAEVDPDMSWSSSLATPPTLSSTVLI    141 - 210
VRNEEASETVFPHDTTANVKSYFSNHDESLKKNDRFIASVTDSENTNQREAASHGFGKTSGNSFKVNSCK    211 - 280
DHIGKSMPNVLEDEVYETVVDTSEEDSFSLCFSKCRTKNLQKVRTSKTRKKIFHEANADECEKSKNQVKE    281 - 350
KYSFVSEVEPNDTDPLDSNVANQKPFESGSDKISKEVVPSLACEWSQLTLSGLNGAQMEKIPLLHISSCD    351 - 420
QNISEKDLLDTENKRKKDFLTSENSLPRISSLPKSEKPLNEETVVNKRDEEQHLESHTDCILAVKQAISG    421 - 490
TSPVASSFQGIKKSIFRIRESPKETFNASFSGHMTDPNFKKETEASESGLEIHTVCSQKEDSLCPNLIDN    491 - 560
GSWPATTTQNSVALKNAGLISTLKKKTNKFIYAIHDETSYKGKKIPKDQKSELINCSAQFEANAFEAPLT    561 - 630
FANADSGLLHSSVKRSCSQNDSEEPTLSLTSSFGTILRKCSRNETCSNNTVISQDLDYKEAKCNKEKLQL    631 - 700
FITPEADSLSCLQEGQCENDPKSKKVSDIKEEVLAAACHPVQHSKVEYSDTDFQSQKSLLYDHENASTLI    701 - 770
LTPTSKDVLSNLVMISRGKESYKMSDKLKGNNYESDVELTKNIPMEKNQDVCALNENYKNVELLPPEKYM    771 - 840
RVASPSRKVQFNQNTNLRVIQKNQEETTSISKITVNPDSEELFSDNENNFVFQVANERNNLALGNTKELH    841 - 910
ETDLTCVNEPIFKNSTMVLYGDTGDKQATQVSIKKDLVYVLAEENKNSVKQHIKMTLGQDLKSDISLNID    911 - 980
KIPEKNNDYMNKWAGLLGPISNHSFGGSFRTASNKEIKLSEHNIKKSKMFFKDIEEQYPTSLACVEIVNT    981 - 1050
LALDNQKKLSKPQSINTVSAHLQSSVVVSDCKNSHITPQMLFSKQDFNSNHNLTPSQKAEITELSTILEE   1051 - 1120
SGSQFEFTQFRKPSYILQKSTFEVPENQMTILKTTSEECRDADLHVIMNAPSIGQVDSSKQFEGTVEIKR   1121 - 1190
KFAGLLKNDCNKSASGYLTDENEVGFRGFYSAHGTKLNVSTEALQKAVKLFSDIENISEETSAEVHPISL   1191 - 1260
SSSKCHDSVVSMFKIENHNDKTVSEKNNKCQLILQNNIEMTTGTFVEEITENYKRNTENEDNKYTAASRN   1261 - 1330
SHNLEFDGSDSSKNDTVCIHKDETDLLFTDQHNICLKLSGQFMKEGNTQIKEDLSDLTFLEVAKAQEACH   1331 - 1400
GNTSNKEQLTATKTEQNIKDFETSDTFFQTASGKNISVAKESFNKIVNFFDQKPEELHNFSLNSELHSDI   1401 - 1470
RKNKMDILSYEETDIVKHKILKESVPVGTGNQLVTFQGQPERDEKIKEPTLLGFHTASGKKVKIAKESLD   1471 - 1540
KVKNLFDEKEQGTSEITSFSHQWAKTLKYREACKDLELACETIEITAAPKCKEMQNSLNNDKNLVSIETV   1541 - 1610
VPPKLLSDNLCRQTENLKTSKSIFLKVKVHENVEKETAKSPATCYTNQSPYSVIENSALAFYTSCSRKTS   1611 - 1680
VSQTSLLEAKKWLREGIFDGQPERINTADYVGNYLYENNSNSTIAENDKNHLSEKQDTYLSNSSMSNSYS   1681 - 1750
YHSDEVYNDSGYLSKNKLDSGIEPVLKNVEDQKNTSFSKVISNVKDANAYPQTVNEDICVEELVTSSSPC   1751 - 1820
KNKNAAIKLSISNSNNFEVGPPAFRIASGKIVCVSHETIKKVKDIFTDSFSKVIKENNENKSKICQTKIM   1821 - 1890
AGCYEALDDSEDILHNSLDNDECSTHSHKVFADIQSEEILQHNQNMSGLEKVSKISPCDVSLETSDICKC   1891 - 1960
SIGKLHKSVSSANTCGIFSTASGKSVQVSDASLQNARQVFSEIEDSTKQVFSKVLFKSNEHSDQLTREEN   1961 - 2030
TAIRTPEHLISQKGFSYNVVNSSAFSGFSTASGKQVSILESSLHKVKGVLEEFDLIRTEHSLHYSPTSRQ   2031 - 2100
NVSKILPRVDKRNPEHCVNSEMEKTCSKEFKLSNNLNVEGGSSENNHSIKVSPYLSQFQQDKQQLVLGTK   2101 - 2170
VSLVENIHVLGKEQASPKNVKMEIGKTETFSDVPVKTNIEVCSTYSKDSENYFETEAVEIAKAFMEDDEL   2171 - 2240
TDSKLPSHATHSLFTCPENEEMVLSNSRIGKRRGEPLILVGEPSIKRNLLNEFDRIIENQEKSLKASKST   2241 - 2310
PDGTIKDRRLFMHHVSLEPITCVPFRTTKERQEIQNPNFTAPGQEFLSKSHLYEHLTLEKSSSNLAVSGH   2311 - 2380
PFYQVSATRNEKMRHLITTGRPTKVFVPPFKTKSHFHRVEQCVRNINLEENRQKQNIDGHGSDDSKNKIN   2381 - 2450
DNEIHQFNKNNSNQAAAVTFTKCEEEPLDLITSLQNARDIQDMRIKKKQRQRVFPQPGSLYLAKTSTLPR   2451 - 2520
ISLKAAVGGQVPSACSHKQLYTYGVSKHCIKINSKNAESFQFHTEDYFGKESLWTGKGIQLADGGWLIPS   2521 - 2590
NDGKAGKEEFYRALCDTPGVDPKLISRIWVYNHYRWIIWKLAAMECAFPKEFANRCLSPERVLLQLKYRY   2591 - 2660
DTEIDRSRRSAIKKIMERDDTAAKTLVLCVSDIISLSANISETSSNKTSSADTQKVAIIELTDGWYAVKA   2661 - 2730
QLDPPLLAVLKNGRLTVGQKIILHGAELVGSPDACTPLEAPESLMLKISANSTRPARWYTKLGFFPDPRP   2731 - 2800
FPLPLSSLFSDGGNVGCVDVIIQRAYPIQWMEKTSSGLYIFRNEREEEKEAAKYVEAQQKRLEALFTKIQ   2801 - 2870
EEFEEHEENTTKPYLPSRALTRQQVRALQDGAELYEAVKNAADPAYLEGYFSEEQLRALNNHRQMLNDKK   2871 - 2940
QAQIQLEIRKAMESAEQKEQGLSRDVTTVWKLRIVSYSKKEKDSVILSIWRPSSDLYSLLTEGKRYRIYH   2941 - 3010
LATSKSKSKSERANIQLAATKKTQYQQLPVSDEILFQIYQPREPLHFSKFLDPDFQPSCSEVDLIGFVVS   3011 - 3080
VVKKTGLAPFVYLSDECYNLLAIKFWIDLNEDIIKPHMLIAASNLQWRPESKSGLLTLFAGDFSVFSASP   3081 - 3150
KEGHFQETFNKMKNTVENIDILCNEAENKLMHILHANDPKWSTPTKDCTSGPYTAQIIPGTGNKLLMSSP   3151 - 3220
NCEIYYQSPLSLCMAKRKSVSTPVSAQMTSKSCKGEKEIDDQKNCKKRRALDFLSRLPLPPPVSPICTFV   3221 - 3290
SPAAQKAFQPPRSCGTKYETPIKKKELNSPQMTPFKKFNEISLLESNSIADEELALINTQALLSGSTGEK   3291 - 3360
QFISVSESTRTAPTSSEDYLRLKRRCTTSLIKEQESSQASTEECEKNKQDTITTKKYI               3361 - 3418
//

Text Mined References (1410)

PMID Year Title
27002934 2016 Phase 2 multicentre trial investigating intermittent and continuous dosing schedules of the poly(ADP-ribose) polymerase inhibitor rucaparib in germline BRCA mutation carriers with advanced ovarian and breast cancer.
26997744 2016 Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.
26989051 2016 Male breast cancer is not congruent with the female disease.
26979245 Polymorphism rs144848 in BRCA2 may reduce lung cancer risk in women: a case-control study in southeast China.
26976601 2016 BRCA2 regulates DMC1-mediated recombination through the BRC repeats.
26888723 2016 Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens.
26859126 2016 Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: Differences based on germline mutation status.
26857456 2016 Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
26852015 2016 Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.
26842001 2016 Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility.
More...