Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18257128 |
review of BRCA1/2 associated hereditary breast cancer [review] |
| 18083712 |
PGE(2) via EP(2) and EP(4) activates the cAMP-->PKA-->CREB pathway leading to enhanced CYP19 transcription and increased aromatase activity through BRCA1 and p300 |
| 18205043 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 18242166 |
Observational study of genetic testing. (HuGE Navigator) |
| 18256760 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18279628 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18284688 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18286383 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18288416 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18355772 |
Meta-analysis of gene-disease association. (HuGE Navigator) |
| 17520345 |
event free survival of women with familial breast cancer affected by a second primary cancer, who are BRCA1 mutation carriers is better |
| 18182994 |
Since BRCA1/2 mutation carrier status is associated with more aggressive disease, it is a prognostic factor for PRCA outcome. |
| 17484040 |
IGF1-19/-19 genotype was significantly more common among BRCA1 mutation carriers (14.2%) than among non-carriers (4.8%) |
| 17636423 |
families appear to exhibit features most consistent with BRCA1 and BRCA2 carrier status |
| 17636424 |
PTEN germline mutations are rare |
| 18208621 |
Overexpression of p53 with loss of p21 expression occurred significantly more frequently in high grade serous carcinomas with epigenetic loss of BRCA1, compared to high grade serous tumors without loss of BRCA1 |
| 17917796 |
Self-image and self-disclosure concerning prophylactic mastectomy (PM) for women with a BRCA1/2 mutation. |
| 18200524 |
Mutation of BRCA1 gene is an indication of susceptibility to breast and ovarian neoplasms. |
| 18256760 |
incidence of mutations in the BRCA1 and BRCA2 genes in the studied sampling of 74 patients with ovarian cancer was 19%; majority of mutations (86%) were detected in BRCA1 gene, where 5382insC mutation predominated (58%) |
| 11044354 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11063672 |
Observational study of genetic testing. (HuGE Navigator) |
| 11073541 |
Observational study of genetic testing. (HuGE Navigator) |
| 11097234 |
Observational study of genetic testing. (HuGE Navigator) |
| 11130383 |
Observational study of gene-environment interaction. (HuGE Navigator) |
| 11149425 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11180449 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11180585 |
Observational study of genetic testing. (HuGE Navigator) |
| 11181654 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11183185 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11192759 |
Observational study of genetic testing. (HuGE Navigator) |
| 11207040 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11221880 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 11248061 |
Observational study of gene-gene interaction. (HuGE Navigator) |
| 11248423 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11263938 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11377596 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 11403219 |
Observational study of genetic testing. (HuGE Navigator) |
| 11410514 |
Observational study of genetic testing. (HuGE Navigator) |
| 11426450 |
Observational study of genetic testing. (HuGE Navigator) |
| 11433401 |
Observational study of genetic testing. (HuGE Navigator) |
| 11437399 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11448436 |
Observational study of genetic testing. (HuGE Navigator) |
| 11448907 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11466700 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11474660 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 11481082 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11493753 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11504767 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11505617 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11535547 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11550168 |
Observational study of genetic testing. (HuGE Navigator) |
| 11556836 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11562929 |
Clinical trial of genetic testing. (HuGE Navigator) |
| 11584901 |
Observational study of gene-gene interaction. (HuGE Navigator) |
| 11668223 |
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) |
| 11668617 |
Observational study of genetic testing. (HuGE Navigator) |
| 11698567 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 11710890 |
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 11720473 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11733976 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11786575 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11786581 |
Observational study of genetic testing. (HuGE Navigator) |
| 11802208 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11802209 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11807889 |
Observational study of genetic testing. (HuGE Navigator) |
| 11822793 |
Observational study of genetic testing. (HuGE Navigator) |
| 11826460 |
Observational study of genetic testing. (HuGE Navigator) |
| 11844822 |
Observational study of genetic testing. (HuGE Navigator) |
| 11857015 |
Observational study of gene-gene interaction. (HuGE Navigator) |
| 11857749 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11870168 |
Observational study of genetic testing. (HuGE Navigator) |
| 11870509 |
Observational study of gene-environment interaction. (HuGE Navigator) |
| 11873550 |
Observational study of genetic testing. (HuGE Navigator) |
| 11879560 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11890937 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11896095 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 11920551 |
Observational study of genetic testing. (HuGE Navigator) |
| 11920621 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11927492 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11927503 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11953874 |
Observational study of genetic testing. (HuGE Navigator) |
| 11964925 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 11972384 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18182994 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18182601 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12774040 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12798717 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12815604 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12833555 |
Observational study of genetic testing. (HuGE Navigator) |
| 12838555 |
Observational study of genetic testing and healthcare-related. (HuGE Navigator) |
| 12845657 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12865453 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12879478 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12883740 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12911720 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12911837 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12918074 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12937835 |
Observational study of genetic testing. (HuGE Navigator) |
| 12946038 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 14507240 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14517958 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14519755 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14522380 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 14551306 |
Observational study of genetic testing. (HuGE Navigator) |
| 14555511 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14572152 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14572939 |
Observational study of healthcare-related. (HuGE Navigator) |
| 14576434 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14580253 |
Observational study of genetic testing. (HuGE Navigator) |
| 14580256 |
Observational study of genetic testing. (HuGE Navigator) |
| 14581427 |
Observational study of healthcare-related. (HuGE Navigator) |
| 14586320 |
Observational study of healthcare-related. (HuGE Navigator) |
| 14615451 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14648706 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 14662532 |
Observational study of genetic testing. (HuGE Navigator) |
| 14668548 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14673037 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14678969 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14680495 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14709734 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 14709740 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14722926 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 14732925 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14735173 |
Observational study of genetic testing. (HuGE Navigator) |
| 14735581 |
Observational study of genetic testing. (HuGE Navigator) |
| 14746861 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14755459 |
Observational study of genetic testing. (HuGE Navigator) |
| 14761918 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14769635 |
Meta-analysis and HuGE review of genotype prevalence, gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) |
| 14973102 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14984481 |
Observational study of genetic testing. (HuGE Navigator) |
| 15041722 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15053071 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15053073 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15059511 |
Observational study of gene-disease association. (HuGE Navigator) |
| 11981002 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12020440 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12023992 |
Observational study of genetic testing. (HuGE Navigator) |
| 12036913 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12039933 |
Observational study of genetic testing. (HuGE Navigator) |
| 12070551 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12088120 |
Observational study of genetic testing. (HuGE Navigator) |
| 12088199 |
Observational study of gene-environment interaction. (HuGE Navigator) |
| 12100744 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12101561 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12112655 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12125210 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12181777 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12210341 |
Observational study of genetic testing. (HuGE Navigator) |
| 12220452 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12229876 |
Observational study of genetic testing. (HuGE Navigator) |
| 12237281 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12362311 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12376208 |
Observational study of genetic testing. (HuGE Navigator) |
| 12376518 |
Observational study of genetic testing. (HuGE Navigator) |
| 12389335 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 12402341 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12404104 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 12431973 |
Observational study of genetic testing. (HuGE Navigator) |
| 12433008 |
Observational study of genetic testing. (HuGE Navigator) |
| 12457999 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12464649 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 12473589 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12476445 |
Observational study of genetic testing. (HuGE Navigator) |
| 12481264 |
Observational study of genetic testing. (HuGE Navigator) |
| 12484126 |
Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 12485194 |
Observational study of genetic testing. (HuGE Navigator) |
| 12491828 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12496047 |
Observational study of genetic testing. (HuGE Navigator) |
| 12504628 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12543786 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12548593 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12567413 |
Observational study of genetic testing. (HuGE Navigator) |
| 12582017 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12602912 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12611452 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12644538 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12644778 |
Observational study of genetic testing. (HuGE Navigator) |
| 12655560 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 12672886 |
Observational study of genetic testing. (HuGE Navigator) |
| 12677558 |
Meta-analysis of gene-disease association. (HuGE Navigator) |
| 12691152 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12704633 |
Observational study of genetic testing. (HuGE Navigator) |
| 12704636 |
Observational study of genetic testing. (HuGE Navigator) |
| 12712470 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12750242 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 15073127 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15082902 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15083174 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15084244 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 15086724 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15095307 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15113441 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15114373 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15116316 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15117986 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15131025 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15131400 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15131401 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 15131403 |
Observational study of genetic testing. (HuGE Navigator) |
| 15138483 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 15138485 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 15140370 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15140371 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15144764 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15159312 |
Observational study of gene-disease association and genetic testing. (HuGE Navigator) |
| 15159322 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15217508 |
Observational study of gene-environment interaction. (HuGE Navigator) |
| 15236312 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15256476 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 15265971 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 15280188 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15280342 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15284715 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15285306 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15319244 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 15331870 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15345109 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15365993 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15367553 |
Observational study of genetic testing. (HuGE Navigator) |
| 15383404 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 15477862 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15519522 |
Observational study of gene-environment interaction. (HuGE Navigator) |
| 15545966 |
Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 15559734 |
Observational study of healthcare-related. (HuGE Navigator) |
| 15564800 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15571962 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15576832 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15589605 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15598764 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15609132 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15617999 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15726604 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15728167 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15733268 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15734957 |
Observational study of gene-disease association. (HuGE Navigator) |
| 12768436 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15743496 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 15777502 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15800311 |
Observational study of genetic testing. (HuGE Navigator) |
| 15846789 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15863145 |
Observational study of gene-environment interaction. (HuGE Navigator) |
| 15876585 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15880530 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15887246 |
Observational study of genotype prevalence and genetic testing. (HuGE Navigator) |
| 15894690 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15900600 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 15930334 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15951956 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15951957 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15978801 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15980987 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15983021 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15986445 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 15994883 |
Meta-analysis of gene-disease association. (HuGE Navigator) |
| 15996267 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16026807 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16030099 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16032702 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16047333 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 16049805 |
Observational study of gene-environment interaction. (HuGE Navigator) |
| 16084122 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16103107 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16118051 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 16137751 |
Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 16140006 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16161633 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 16168130 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16176503 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 16234515 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16271956 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16284991 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16324400 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16331614 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16389418 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16455195 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16456781 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16477874 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16484695 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16515589 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 16537453 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16541315 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16541324 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16563154 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 16563180 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16622123 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16638864 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16639601 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16644204 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16648044 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 16724247 |
Observational study of genetic testing. (HuGE Navigator) |
| 16724249 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16728435 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16737811 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16738949 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16773440 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16783967 |
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) |
| 16837909 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16912212 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16931905 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16996204 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16998791 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17004108 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17010055 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17018160 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17021353 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17039264 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17061047 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17063270 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17078101 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17100994 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17119064 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17145824 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17145825 |
Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 17148771 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 17151928 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17160431 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17196508 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17210933 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17217814 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17221156 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17250666 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17262179 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17285126 |
Observational study of genetic testing. (HuGE Navigator) |
| 17301259 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 17307805 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17307836 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17308087 |
Observational study of genetic testing. (HuGE Navigator) |
| 17333338 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17333342 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17333477 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17341484 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 17380889 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17397054 |
Observational study of genetic testing. (HuGE Navigator) |
| 17405295 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17409195 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 17413421 |
Observational study of genetic testing. (HuGE Navigator) |
| 17416853 |
Meta-analysis of gene-disease association. (HuGE Navigator) |
| 17428320 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17428325 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17452776 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17453335 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17484040 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17492376 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 17541742 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17557253 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17582599 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17585057 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17591842 |
Observational study of genetic testing. (HuGE Navigator) |
| 17592676 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17603881 |
Observational study of genetic testing. (HuGE Navigator) |
| 17624602 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17625123 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17627006 |
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) |
| 17634561 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17635951 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 17636424 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17640328 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17680524 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17685459 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17686308 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17764108 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17767707 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17851763 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17922413 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17925560 |
Observational study of genotype prevalence and genetic testing. (HuGE Navigator) |
| 17952592 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17972172 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 17972177 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17997147 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17999359 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 18026875 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 18080788 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18090912 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18092194 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18095154 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 18158280 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18159056 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18165636 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18172190 |
Meta-analysis of gene-disease association. (HuGE Navigator) |
| 18172292 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 18175183 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18176857 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 15067026 |
Observational study of genetic testing. (HuGE Navigator) |
| 11977534 |
Observational study of genetic testing. (HuGE Navigator) |
| 17262179 |
BRCA1 mutations are associated with breast ans ovarian cancer |
| 18045956 |
Silent-RNA-mediated downregulation of BRCA1 in primary human breast cancer gland tumor cells triggers upregulation of endogenous intracellular IGF-I in vitro. |
| 18090912 |
Risk of prostate cancer in BRCA1 carriers varies with the position of the mutation |
| 18094417 |
Tumors grow quickly in women with BRCA1 mutations and in young women. |
| 18094425 |
support a role for BRCA1 mRNA expression as a predictive marker of survival in sporadic epithelial ovarian cancer. |
| 17333342 |
BRCA1 genomic rearrangements is associated with breast and ovarian cancer |
| 17307836 |
A role for BRCA1/2 mutations in colorectal cancer risk in a subgroup of breast cancer and/or ovarian cancer affected carriers. |
| 18071589 |
COBRA1 and BRCA1 may engage in common gene regulatory pathways to suppress breast cancer progression. |
| 18230721 |
Loss of BRCA1 may result in the accumulation of genetically unstable breast stem cells, providing prime targets for further carcinogenic events. |
| 17922257 |
prevalence of BRCA1 & BRCA2 mutations in breast cancer patients with affected relatives in Tunisia; 4 mutations in BRCA1 were detected, a novel frame-shift mutation (c.211dupA) & 3 other frameshift mutations--c.4041delAG, c.2551delG and c.5266dupC |
| 17997147 |
Authors identified BRCA1/2 germline mutations in 21 (13.9%) patients. Seventeen (81%) of carriers have BRCA1 and four (19%) have BRCA2 mutation. BRCA1/2 carriers have a distinctly longer overall survival than sporadic cases. |
| 18165636 |
study confirms that, among Ashkenazi ovarian cancer patients, BRCA1/2 mutations are associated with improved long-term survival |
| 16760288 |
Results suggest that the charge and stechiometry variations determined by the changes in the amino acids Y179C, F486L and N550H in BRCA1 might produce an effect on the conformation of the protein and, consequently, on its function in breast cancer. |
| 16760289 |
Analysis resulted in the identification of 25 and 52 variants in the BRCA1 and BRCA2 genes, respectively in breast or ovarian cancer. |
| 18097605 |
Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes |
| 17694537 |
BRCA1 truncated protein could not be detected, even when nonsense-mediated mRNA decay (NMD) mechanism was inhibited. This suggests that BRCA1 truncated protein is unstable |
| 17987791 |
data showed high prevalence of BRCA1 gene mutation among breast or breast/ovarian cancer families in South India and breast cancer patients having BRCA1 mutations were associated with poor prognosis |
| 17688236 |
Data indicate that BRCA1 are the major susceptibility genes for ovarian cancer but that other susceptibility genes may exist. |
| 18165637 |
BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer |
| 17496925 |
illustrate a molecular mechanism for estrogen/ERalpha signals in BRCA1-associated tissue-specific tumor formation, and identify key elements in estrogen/ERalpha-signaling cascade that may serve as therapeutic targets for BRCA1-associated tumorigenesis |
| 17873885 |
Data suggest that BRCA1 has the ability to direct the synthesis of specific polyubiquitin chain linkages, depending on the E2 bound to its RING. |
| 18042939 |
evaluation of the risks of developing breast carcinoma for male BRCA1 and BRCA2 mutation carriers; both the relative and cumulative risks were higher for BRCA2 mutation carriers than for BRCA1 mutation carriers |
| 17996703 |
BRCA1 is not required for the ubiquitylation of human RNA polymerase II. |
| 17664283 |
Results point to a critical role for BACH1 helicase activity not only in the timely progression through the S phase by association with BRCA1/BRCA2, but also in maintaining genomic stability. |
| 17582599 |
BRCA1 mutation carriers without cancer had increased chromosome breaks as well as breaks and gaps per cell post irradiation |
| 17591843 |
review of some of the most well-known and significant examples of founder mutations in BRCA genes found in European and non-European populations [review] |
| 17990525 |
Two variants of nucleotide sequence observed in the number of patients were classified as DNA polymorphisms (P871L and S1436S) rather than mutations as they were not tightly associated with the increased risk of breast cancer. |
| 18077395 |
the human Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage |
| 17221156 |
identified a BRCA1 mutation with a possible founder effect |
| 17766039 |
Data suggests that the IGF-IR gene is a physiologically relevant downstream target for BRCA1 action. |
| 18034184 |
Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development. |
| 17673924 |
Higher BTAK expression was found in ovarian cancer cells compared to ovaries without cancer but with known BRCA1/2 mutation or strong family history. |
| 17640328 |
Individuals homozygous for the 17GT allele for BRCA1 D17S1323 were more likely to have spina bifida lesions located caudally, while heterozygotes with the 17GT allele for BRCA1 D17S1323 had a more rostral lesion. |
| 17471561 |
Carriers of BRCA1 mutations fare significantly worse than carriers of BRCA2, even when their tumors are diagnosed at an apparently early stage. |
| 17803681 |
downregulation of BRCA1 expression in MDA-MB-468 cells reduced the apoptotic response to TRAIL |
| 17942895 |
Overexpression of the homologous recombinase RAD51 in a DT40 BRCA1Delta/Delta mutant rescues defects in proliferation, DNA damage survival, and homologous recombination. |
| 17968145 |
High frequency of BRCA1/2 and p53 somatic inactivation in sporadic ovarian cancer. |
| 18000219 |
BRCA1 alters the response of breast cancer cells to antiestrogen therapy by directly modulating ER alpha expression. |
| 17719744 |
An nsSNP (rs1800751) could be an important candidate for the breast cancer caused by the BRCA1 gene. |
| 17924331 |
The clinical significance of 1,433 sequence variants of unknown significance (VUSs) in the BRCA genes, was assessed. |
| 17625228 |
High-risk patients with BRCA1-negative tumors should be screened first for BRCA2 gene. |
| 16912201 |
Breast cancer cells lacking cancer predisposition genes BRCA1 are more sensitive to cyclin-depende kinase inhibitors. |
| 16912212 |
Prevalence of BRCA1 mutations in breast cancer cases among racial and age groups and show key predictors of carrier status for both White and Black women and women. |
| 17916242 |
it would have been difficult to map BRCA1 in an Ashkenazi case-unrelated control association study using anonymous markers that were linked to the founder mutations |
| 17591844 |
4843delC, a deleterious mutation of the BRCA1 gene, is due to a founder effect originating in the Sicilian region of Italy. |
| 17683622 |
Inactivation of a single gene within the BRCA1 pathway can increase risks for multiple cancers and inactivation of a different gene in the same pathway may have similar effects. |
| 16446310 |
The telomere dysfunction phenotype in Brca1-deficient cells of transgenic mice suggests that loss of telomere integrity might contribute to chromosome end dysfunction and permit the formation of potentially oncogenic translocations. |
| 17850627 |
analysis of BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families |
| 17921118 |
BRCA1 function might be lost in breast tumor cells not only through mutation, but also via abnormal cytoplasmic location. |
| 17420720 |
Study in Brca1 mice demonstrates a possible increase in cancer risk following radiation, given the differences of phenotypes of Brca1 heterozygous mutation in mice and human. |
| 17063264 |
functional polymorphisms in the MTHFR gene modify the risk of breast and may potentially alter the risk of ovarian cancer in women with BRCA1, an inherited predisposition |
| 17063265 |
BRCA1 and BRCA2 mutation status have roles in inter-cell-line phenotypic variability after irradiation of lymphoblastoid cell lines |
| 17406974 |
analysis of BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer |
| 17384678 |
BRCA1 splice variant BRCA1a/p110 can induce apoptosis of human breast, ovarian and prostatic cancer cells. |
| 17646271 |
We identified and characterized a novel large BRCA1 deletion in five unrelated families-four of Mexican ancestry and one of African and Native American ancestry, suggesting the possibility of founder effect of Amerindian or Mestizo origin. |
| 17531442 |
BRCA1 requires BARD1 for targeting to different types of DNA lesion, and that distinct C-terminal sequences mediate selective recruitment to sites of double- or single-strand DNA damage. |
| 17080309 |
findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia |
| 17334399 |
Cyclin D1/cdk4-mediated phosphorylation of BRCA1 inhibits the ability of BRCA1 to be recruited to particular promoters in vivo. |
| 17505062 |
Regulates Akt signaling and the PI3K/Akt pathway modulates the ability of BRCA1 to repress estrogen receptor-alpha. |
| 17039264 |
in conclusion, the BRCA1-Gln356 allele presents risk factor in the onset and progression of breast cancer in Czech population |
| 17257844 |
investigation of the contribution of BRCA-1 and BRCA-2 germline mutations to the clinical features and outcome in 66 Italian women with early-onset breast cancer |
| 17697535 |
A mutation in the 5' UTR of the BRCA1 gene downregulates translational efficiency of the protein in breast cancer. |
| 16261409 |
testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers |
| 16826315 |
Study identified a specific spectrum of germline BRCA1/BRCA2 mutations in Portuguese families with inherited predisposition to breast/ovarian cancer and found evidence for genetic anticipation regarding age of diagnosis in succeeding generations. |
| 17452776 |
These findings point to the existence of an association of ERBB2 allelic variants at both loci with specific breast tumor phenotypes. |
| 16724249 |
There is a low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients. |
| 17612526 |
identify a new post-transcriptional regulatory axis and a novel mechanism for modulating the levels of BRCA1 protein, with possible implications for understanding the mechanisms underlying BRCA1 repression in breast cancer |
| 17634561 |
Mutations found in a significant proportion of women with ductal carcinoma in situ who presented for hereditary risk assessment. |
| 17051349 |
Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer. Estimating the penetrance of a mutation using different approaches, we found that both the choice of study population and statistical method affect the results |
| 17426707 |
unlikely that annual screening will reduce mortality from ovarian cancer in BRCA1/2 mutation carriers. |
| 17635951 |
Duration of oral contraceptive use, especially before first full-term pregnancy, may be associated with an increasing risk of breast cancer among both BRCA1 and BRCA2 mutation carriers. |
| 17160431 |
These data suggest that BRCA2 mutation carriers with ovarian cancer may have better survival than BRCA1 carriers and non-carriers. |
| 16944269 |
We have compared the X inactivation pattern in lymphoblastoid cell lines from 38 females carrying heterozygous BRCA1 mutation to 41 controls. X inactivation analysis was assessed on the polymorphic CAG repeat within the human androgen receptor gene. |
| 16944270 |
Ninteen percent of the women who developed both invasive breast and ovarian tumors carried one of the analyzed BRCA1 gene mutations but none of the women were positive for the analyzed BRCA2 mutation. |
| 17722998 |
BRCA1 is one of molecular targets of trichostatin A |
| 17761984 |
The greatest proportion of serous cancer risk in BRCA mutation-positive women should be assigned to the fimbria rather than the ovary. |
| 17626182 |
BRCA1- and p53-deficient mouse mammary tumors exhibit dramatic genomic instability, and their molecular signatures resemble those of human BRCA1-mutated breast cancers. |
| 17063270 |
analysis of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| 17585057 |
Variation in the BRCA1 gene is associted with prostate cancer |
| 17599361 |
Correlation was observed between promoter methylation and loss of protein expression confirming our hypothesis that promoter methylation is an important mechanism for transcriptional silencing of these genes in breast cancer |
| 12890688 |
Forms a heterodimer with the BARD1 protein, and the resulting complex functions as an E3 ubiquitin ligase that catalyzes the synthesis of polyubiquitin chains. |
| 12568865 |
mutational analysis in a case of familial endometriosis |
| 15917310 |
role of BRCA1 and BRCA2 mutation in pre-disposition to ovarian cancer. |
| 11748848 |
In BRCA1, two novel frame shift mutations were identified as 3761-3762delGA and 2616-2617ins10. |
| 17244477 |
Identification of cancer-specific splice forms of BRCA1 protein. |
| 17493881 |
thermal unfolding of variant V1833M is only moderately affected relative to wild-type BRCT |
| 14516936 |
Recent studies indicate that BRCA1 interacts with and regulates the activity of estrogen receptor alpha (ER alpha) and the androgen receptor. Its expression is regulated by carcinogens and anticarcinogens that modulate ER alpha signaling. |
| 15082902 |
BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients. |
| 12353262 |
By confocal analysis of breast cancer cells, confirmed by immunogold electron microscopy, BRCA1 localizes to microtubules of the mitotic spindle, to the walls of the centrioles and to pericentriolar fibers at centrosomes. |
| 12611903 |
BRCA1 function is regulated by MDC1 in DNA damage checkpoint control |
| 12909625 |
results suggest that E2F6 represses transcription of the brca1, ctip, art27, hp1alpha, and the rbap48 genes and depletion of E2F6 resulted in the recruitment of E2F1 to the target promoters |
| 16261400 |
BRCA1 mutations are associated with breast and ovarian cancer |
| 11880951 |
Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot |
| 12239151 |
interacts with FANCD2 in S phase cell lines |
| 15735702 |
ERK1/2 signaling has a critical role in the regulation of BRCA1 function on controlling the G2/M checkpoint responses |
| 16185777 |
We identify the first BRCA1 alternative splice variant containing an additional in-frame exon. This previously unknown exon 13A-containing transcript is generated by the insertion of 66 nucleotides between exons 13 and 14. |
| 16807234 |
Results show that wild type BRCA1 specifically represses the expression of osteopontin, a multifunctional estrogen-responsive gene implicated in oncogenic transformation, particularly that of the breast. |
| 12497638 |
BRCA1 germline mutations in Indian familial breast cancer. |
| 16773440 |
Earlier menopause in carriers of the BRCA1 mutation is associated with hypergonadotropic activity and may predispose to ovarian cancer at a younger age |
| 12967657 |
Using chromosomal stability after ICL damage as the end point, we find that BRCA1 functions in more than just the FA pathway for genome maintenance, whereas BRCA2 appears to act predominantly in the FA pathway. |
| 14636569 |
Data report the isolation of a holoenzyme complex termed BRCC containing BRCA1, BRCA2, and RAD51, which displays increased association with p53 following DNA damage and ubiquitinates p53 in vitro. |
| 17321670 |
These results suggest a possible role for BRCA1 in modulating cisplatin sensitivity in head and neck cancer cells. |
| 15168169 |
Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families |
| 16229810 |
Our findings support a model in which an Estrogen Receptor alpha/AP-1 complex modulates BRCA-1 transcription under conditions of estrogen stimulation. |
| 16941470 |
Results show that in the presence of a premature termination codon at position 36 or 39, translation reinitiation occurs in the BRCA1 minigenes at position 128. |
| 12154023 |
BRCA1 and BARD1 are associated with the RNA polymerase II holoenzyme. |
| 12237273 |
Cancer risks in carriers |
| 12237281 |
cancer incidence in mutation carriers |
| 12237282 |
Cancer risk estimates for mutation carriers identified in a risk evaluation program |
| 12237285 |
inactivated in ovarian cancer |
| 16169426 |
BRCA1 is upregulated both in human male and female germ cells and in preimplantation embryos; its dysfunction might alter human embryogenesis or fertility. |
| 16166645 |
BRCA1-dependent ubiquitination inhibits centrosomal microtubule nucleation activity |
| 16998496 |
Effective strategies have been developed to reduce the risk for the development of breast and ovarian cancer in women with BRCA1/2 mutations, making genetic testing for these mutations an important part of the management. [REview] |
| 12474142 |
Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. |
| 15107825 |
BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II |
| 15900600 |
There is no significant effect of AIB1 genetic variation on breast cancer risk in BRCA1 mutation carriers. |
| 11925436 |
BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export |
| 12011077 |
a component of the IFN-gamma-regulated signaling pathway and may play a role in the regulation of IFN-gamma-mediated apoptosis. |
| 12170759 |
3 mutations in the BRCA1 gene were identified: 2 novel mutations (a missense mutation in exon 7 near the RING finger domain & a one base pair deletion in exon 11 which results in protein truncation)& 185 delAG, previously described in Ashkenazi Jews. |
| 12431996 |
enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein |
| 17288454 |
BRCA1 plays a role in cellular repair of oxidatively induced DNA lesions |
| 14576432 |
identified tandem BRCT (BRCA1 carboxyl-terminal) domains in BRCA1 as phosphoserine- or phosphothreonine-specific binding modules that recognize substrates phosphorylated by the kinases ATM and ATR in response to gamma-irradiation |
| 14576433 |
findings show that the BRCA1 BRCT domain directly interacts with phosphorylated BRCA1-Associated Carboxyl-terminal Helicase (BACH1); interaction is cell cycle regulated and required for DNA damage-induced checkpoint control |
| 14576434 |
risks of breast and ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2 |
| 12034536 |
A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing. |
| 14559807 |
BRCA1 acts as a differential modulator of apoptosis in a breast cancer cell line depending on the nature of the cellular insult caused by chemotherapy. |
| 14638690 |
BRCA1-BARD1 mediates novel polyubiquitin chains that may be distinctly edited by 26 S proteasome from conventional Lys-48-linked polyubiquitin chains. |
| 17561994 |
Screening for large genomic rearrangements in the BRCA1 gene in the Czech high-risk patients is highly supported by this study |
| 12490973 |
BRCA1 AND VHL LOH is infrequent in sporadic breast carcinoma. |
| 15199145 |
The proliferation of MCF-7 cells induced by E2 was significantly inhibited by PD98059, a specific ERK inhibitor, or by dominant negative ERK2 expression and by expression of wt BRCA1 (but not mutant BRCA1). |
| 16172191 |
Model for BRCA1 carcinogenesis in which genomic instability leads to the initiation of cancerous cell clones (review) |
| 15447980 |
BRCA1 truncating mutations do not account for the linkage evidence on chromosome 17 observed hereditary prostate cancer families |
| 16738325 |
The G2/M checkpoint-mediated arrest of the cell cycle is critical for the prevention of both apoptosis and the accumulation of cells with rereplicated DNA, because the loss of ATR, BRCA1, or FANCA promotes apoptosis and suppresses the accumulation. |
| 12485996 |
BRCA1/BARD1 catalyses the formation of multiple polyubiquitin chains on itself and potentiates the E3 ubiquitin ligase activity of the BRCA1/BARD1 complex >20-fold |
| 12677558 |
Average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% (95% confidence interval 44%-78%) for breast cancer and 39% (18%-54%) for ovarian cancer |
| 17289874 |
low mRNA and protein expression in the BRCA1/BRCA2 and XRCC5 genes occur in lung adenocarcinoma and squamous cell carcinoma, respectively, and promoter hypermethylation is the predominant mechanism in deregulation of these genes |
| 17404506 |
BRCA1 C-terminal domain is implicated in recombination control. |
| 11927591 |
Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase. |
| 12037674 |
pathological splice mutations outside the invariant AG/GT splice sites of exon 5 increase alternative transcript levels in the 5' end of the gene |
| 16830385 |
Microsatellite instability (MSI) of BRCA1 gene could be used as a molecular marker in early phases of sporadic gastric cancer in Chinese population. |
| 12114493 |
Large rearrangements of exons 13 and 22 have been identified in the BRCA1 gene in German families with a strong history of breast and ovarian cancer. |
| 14990569 |
BRCA1 phosphorylation by Aurora-A plays a role in G(2) to M transition of cell cycle |
| 11782367 |
Activation of the aromatic hydrocarbon receptor pathway is not sufficient for transcriptional repression of BRCA-1: requirements for metabolism of benzo[a]pyrene to 7r,8t-dihydroxy-9t,10-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene. |
| 11782371 |
p300 Modulates the BRCA1 inhibition of estrogen receptor activity. |
| 12112655 |
Findings demonstrate that a substantial proportion of Turkish ovarian cancer patients, both with and without a family history, carry BRCA1 mutations. |
| 12700228 |
p65/RelA, one of the two subunits of the transcription factor NF-kappaB, binds to the BRCA1 protein. |
| 12920090 |
Recurrent BRCA1 mutations have no role in predisposition to prostate cancer in Finland. |
| 14550570 |
-FHL2 interaction may be involved in transcriptional regulation and play a significant role in cancer cell growth |
| 14578343 |
BRCA1 COOH-terminal (BRCT) domains have a role in DNA damage |
| 14613551 |
Review. Decreased BRCA1 expression occurs frequently in sporadic tumors, and the magnitude of this decrease has been correlated with increased disease progression. |
| 14644329 |
Women with a BRCA1 mutation are at higher risk for the induction of mutations and secondary cancers by standard therapies. |
| 14701743 |
functional link between recombination control and breast cancer predisposition in carriers of Chk2 and BRCA1 germ line mutations |
| 15282296 |
Data show that the BRCA1 C-terminal region can negatively modulate phosphorylation levels of the RNA polymerase II carboxy-terminal domain by the Cdk-activating kinase (CAK) in vitro. |
| 15242757 |
Taken together, these data suggest a direct link between the BRCA1 185delAG mutation and alterations in the caspase-mediated apoptotic pathway. |
| 15368961 |
The loss of the wild-type allele inherited from the unaffected parent (LOH), commonly observed in the primary breast and ovarian tumors in these susceptible women, represents the event that initiates the tumorigenesis process. |
| 15923272 |
The 1708E variant was associated with the disruption of different cellular functions of BRCA1. |
| 15886201 |
BRCA1 and BARD1 can ubiquitinate phosphorylated RNA polymerase II |
| 11859870 |
plays similar role in both male and female breast carcinoma; loss of this protein associated with poor prognosis |
| 12698193 |
Founder mutations are present within the Scottish/Northern Irish population and have implications for the organisation of molecular screening services. |
| 12698194 |
BRCA1 protein has a significant role in both sporadic and hereditary breast cancers. |
| 12698198 |
Specific chemosensitivity profile of BRCA1-defective breast cancer cells in vitro, which is dependent on BRCA1 protein expression. |
| 14612409 |
an exogenous BRCA1 gene strongly inhibited telomerase enzymatic activity in human prostate and breast cancer cell lines |
| 15254237 |
BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function |
| 16260778 |
the multiple BRCA1 functions require a novel hGCN5/TRRAP histone acetyltransferase complex subclass |
| 16271956 |
Excludes the frequent occurrence of large genomic alterations in the BRCA1 gene in Finland amd concludes that there are still unknown breast cancer susceptibility gene(s) that are responsible for breast cancer predisposition. |
| 16326698 |
BRCA1 affects lipogenesis through binding to P-ACCA, suggesting a new mechanism by which BRCA1 may exert a tumor suppressor function |
| 15803125 |
The BRCA1-IRIS is a novel product of the breast cancer susceptibility locus BRCA1. |
| 15803127 |
The BRCA1-IRIS is a novel product of the breast cancer susceptibility locus BRCA1. |
| 15846789 |
PCR assay was used for determining the prevalence of five BRCA1 rearrangement mutations that previously had been reported to occur in unrelated patients. |
| 12438698 |
Purified RINGs, like BRCA1, self-assemble into supramolecular structures. Self-assembly controls & amplifies E3 ubiquitin conjugation activity of BARD1:BRCA1. Forced oligomerization partially restores assembly & E3 activity of oncogenic mutant BRCA1. |
| 12647291 |
focus is transcriptional target genes and how BRCA1 could be linked to DNA repair and cell cycle regulation in breast cancer |
| 11751867 |
These findings reveal a novel complex between BRCA1, LMO4, and CtIP and indicate a role for LMO4 as a repressor of BRCA1 activity in breast tissue. |
| 14574155 |
BRCA1 mutation is associated with serous carcinoma of ovary |
| 15096610 |
interaction with claspin regulates cell proliferation |
| 12020440 |
Cells from carriers of mutations in one allele of the BRCA1 or BRCA2 genes have no gross defects in their ability to rejoin radiation-induced DNA breaks. |
| 14654792 |
Cell cycle arrest after ionizing radiation (IR) of breast carcinoma cells may involve repression of the gene for polo-like kinase 1 by BRCA1. |
| 15735739 |
BRCA1-dependent DNA repair in response to a DNA damaging agent is suppressed by TGFbeta1/Smad3 |
| 15723343 |
coordinating role of BRCA1 in gene expression may ensure the appropriate quantity and quality of the mature transcripts for certain breast and ovarian cancer-related genes, as well as the genetic integrity of the breast and ovary tissues |
| 12032322 |
transcriptionally regulates genes involved in breast tumorigenesis |
| 12080089 |
JunB potentiates function of BRCA1 activation domain 1 (AD1) through a coiled-coil-mediated interaction |
| 12810625 |
Both TopBP1 and BRCA1 specifically regulate the G(2)-M checkpoint, partially compensating each function. |
| 15159397 |
BRCA1-BARD1 complexes act as an adaptor to mediate phosphorylation of p53, influencing G(1)/S cell cycle progression after DNA damage. |
| 15733268 |
results reveal unique characteristics of BRCA1/2 mutation, genotype-phenotype & prognosis in moderate- & low-risk individuals of Greek ancestry; breast cancer due to mutations in BRCA1 & BRCA2 appears to be a heterogeneous syndrome in Greek population |
| 15983021 |
Distribution of BRCA1 and BRCA2 mutations in a cohort of young women with breast cancer compared as a function with race. |
| 15983032 |
BRCA1 interacts with human papillomavirus oncoproteins. |
| 16240122 |
these data implicate BRCA1 and the H2AX kinase in replication of facultative heterochromatin on the inactive X chromosome |
| 16284991 |
The frequency of the hereditary ovarian carcinoma is attributed to BRCA1 gene mutation. |
| 16417649 |
study proposes a new mechanism by which estrogen receptors and retinoic acid receptors regulate BRCA1-mediated DNA repair by means of CBP |
| 16452482 |
results demonstrate that DNA damage-induced ATM activation requires a coordinated assembly of BRCA1, BAAT1, and ATM |
| 16509964 |
while the Norwegian haplotype including 1135insA represents an ancient Norwegian mutation, the same mutation has occurred independently in the other populations examined |
| 16563180 |
Carrying a BRCA1 or BRCA2 mutation is not a risk factor for spontaneous abortions but may be associated with frequency of induced abortion. |
| 16837909 |
In present study one Ex20insC mutations of BRCA1 gene was identified in women with breast cancer. |
| 16860316 |
A novel signaling pathway links BRCA1-IRIS to cellular proliferation through c-Jun/AP1 nuclear pathway; finally, this culminates in the increased expression of the cyclin D1 gene. |
| 16979166 |
Cav-1 induced the cytoplasmic sequestration of BRCA1. |
| 17061047 |
no evidence for poorer short-term survival in BRCA1 mutation carriers compared to non-carriers with breast cancer |
| 17233897 |
found a novel BRCA1 mutation in a family of Palestinian origin with a history highly compatible with BRCA1 phenotype |
| 17373631 |
These data suggests that, at least part of the biological actions of insulin-like growth factor-I in mammary gland cells may be mediated through BRCA1. |
| 17392432 |
BRCA1 is a ubiquitin ligase expressed in a wide range of tissues. |
| 17434164 |
Regulation of the BRCA1 promoter in ovarian cells. |
| 17621610 |
the ubiquitin-interacting motif containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response |
| 12646176 |
BRCA1 is involved in regulating cellular immortalization through the modulation of c-Myc on the hTERT promoter |
| 12668603 |
BRCA1 has roles in DNA damage repair and cellular responses that link development and cancer [review] |
| 12827452 |
analysis of BRCA1 missense mutations in breast-ovarian chancer families |
| 12879478 |
germline 185delAG BRCA1 mutations are associated with an inherited predisposition to breast and ovarian carcinoma in non-Jewish Americans of Spanish ancestry |
| 12552965 |
BRCA1 expression was positively-correlated with Bcl-2 expression, but no relationship between BRCA1 expression and Bax or p53 expression could be established in breast carcinomas. |
| 12691152 |
germline BRCA1 mutations are not associated with an increased risk for lymphoid malignancies |
| 11890937 |
mutagenic sensitivity in blood of women carrying brca1 mutation |
| 15073127 |
BRCA1 and BRCA2 mutations may have a role in progression of ovarian cancer |
| 15319244 |
Patients with bilateral breast cancer having BRCA1 mutations are significantly younger than non-carriers. |
| 15520196 |
BRCA1 protects cells against oxidative stress. |
| 15166217 |
data indicate that the cell cycle-dependent pattern of BRCA1 tumor suppressor expression is determined in part by ubiquitin-dependent proteasomal degradation |
| 15665273 |
CDK2-BRCA1-Nucleophosmin pathway coordinately functions in cell growth and tumor progression pathways |
| 15831101 |
results lead to conclusion that, in colon epithelial cells, the expression level of the K18 gene is kept in check by a repression mechanism involving CtBP1, HDAC & BRCA1; mechanism is altered in SW613-S colon carcinoma cells that overexpress the K18 gene |
| 15936476 |
Germline mutations within breast cancer susceptibility genes, such as BRCA1 and BRCA2 are associated with a major risk of breast cancer during lifetime. |
| 15965487 |
BRCA1 participates in DNA decatenation and in the maintenance of genomic stability. |
| 16543155 |
Self-assembly has profound consequences for the processive formation of polyubiquitin (poly-Ub) chains in ubiquitination reactions directed by the breast and ovarian cancer tumor susceptibility protein BRCA1. |
| 16718381 |
down regulation of BRCA1 protein and loss of heterozygosity correlated with the clinicopathological parameters in the pathogenesis of sporadic breast cancer women in Chennai (South India). |
| 16772120 |
provide evidence that gross rearrangements within the breast and ovarian cancer susceptibility protein 1(BRCA1) gene locus may be as frequent as 3% in primarily mutation-negative tested high-risk familial breast and ovarian cancer of German ancestry |
| 16782705 |
BRCA1 modulates protein synthesis via its interaction with PABP, providing a novel mechanism by which BRCA1 may exert its tumor suppressor function |
| 16807675 |
Describes genetic screening program for breast neoplasms based on BRCA1 mutations. |
| 16735508 |
BRCA1 could act as a CTD kinase inhibitor and, as such, contribute to the regulation of p21 gene expression |
| 16996204 |
infrequent presence of germline BRCA1 mutations in our study agree with the idea that a great proportion of moderate risk breast cancer population could be due to the susceptibility genes distinct from BRCA1 |
| 17185394 |
The ubiquitin-proteasome degradation pathway plays a significant role in the coordinated protein stability of BRCA1 and its partner BARD1 in ovarian granulosa cells. |
| 17220212 |
The ITGB3_Leu33Pro polymorphism may potentially increase the risk of ovarian cancer in Polish women with an inherited BRCA1 mutation. |
| 17253935 |
Epimutation is an unlikely explanation for hereditary breast cancer in women who test negative for BRCA mutations. |
| 17319787 |
analysis of BRCA1 gene was carried out in 56 Slovak breast/ovarian cancer families; 4 mutations accounted for 61.3% of all detected pathogenic mutations in BRCA1, and there also was a large scale of low frequency disease causing mutations |
| 17428325 |
common polymorphisms in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are not shown to increase breast cancer risk |
| 17428466 |
These findings implicate Akt in upstream events leading to BRCA1 nuclear localization and function. |
| 17470134 |
presence of BRCA1 and BRCA2 rearrangements among Asian patients with early onset or familial history of breast or ovarian cancer |
| 17497966 |
among carriers of BRCA1 or BRCA2 mutations, the cumulative lifetime risk of developing breast cancer is 50-60% and the equivalent risk of ovarian cancer is 20-40% in Australian women |
| 14660588 |
BRCA1 has a role as as a ZBRK1 co-repressor |
| 12700125 |
BRCA1 Ser-1387 site phosphorylation is required for S-phase DNA damage checkpoint; Ser-1423 phosphorylation is specifically required for the G2/M checkpoint. |
| 14976165 |
BRCA1 directed ligation of ubiquitin occurs during S-phase |
| 15125843 |
The phosphorylated serine 990 and phenylalanine 993 of BACH1 anchor the binding to BRCA1 through specific interactions with a surface cleft at the junction of the two BRCT repeats. |
| 15591272 |
the 4153delA BRCA1 mutation confers a comparatively low risk of breast cancer |
| 15887246 |
BRCA1/2 mutation screening should be considered for all women diagnosed before age 41. |
| 12505256 |
Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families. |
| 15591126 |
Phosphorylated BRCA1 is predominantly located in the nucleus and mitochondria. |
| 15365993 |
A novel pathogenic germline mutation, BRCA1 c.5445G>A, was found in a screening of sporadic Korean breast cancer patients, along with 3 new polymorphic and 6 new intronic variants of unknown clinical significance. |
| 15986445 |
women with a BRCA1 protein mutation and 4 or more children had a 38% decrease in breast cancer risk compared to nulliparous women, while among BRCA2 protein carriers, increasing parity was associated with an increased risk of breast cancer |
| 16109739 |
BRCA1 regulates the activity of progesterone, a major hormone of pregnancy that may also participate in mammary carcinogenesis. |
| 16170371 |
BRCA1 modulates aromatase expression in ovarian granulosa cells and primary preadipocytes; transient knockdown of BRCA1 enhances aromatase expression in both ovarian granulosa cells and primary preadipocytes |
| 16217032 |
Data suggest that the microcephaly observed in patients with MCPH1 deficiencies is due to disruption of the ATR-BRCA1-Chk1 signaling pathway that is also disrupted in Seckel syndrome patients. |
| 15569676 |
RING and BRCT domains together target BRCA1 to large focal assemblies at DNA double-stranded breaks |
| 12531920 |
phylogenetic analysis of BRCA1 reveals that selection is acting most strongly on the role of BRCA1 in DNA repair |
| 11857748 |
A low frequency of recurrent BRCA1 mutations has been found in breast and ovarian cancers in Spain. |
| 11857749 |
A founder mutation of BRCA1 identified in the Chinese population is a recurrent BRCA1 germline mutation in ovarian cancer. |
| 12917330 |
exogenous nuclease-defective FEN-1 causes repeat instability and aberrant DNA repair. Inefficient flap processing blocks the formation of Rad51/BRCA1 complexes but invokes repair by other pathways |
| 12582017 |
The interindividual variability in ovarian cancer penetrance in BRCA1 carriers may be explained by a common BRCA1 Gly1038 wild-type allele, given its high frequency (0.27). |
| 15065664 |
BRCA1 function contributes to maintenance of the proper heterochromatin superstructure on inactivated X chromosomes. |
| 15300854 |
2 cases of monoallelic BRCA1 expression were detected, one of which was only revealed by allele-specific expression analysis. |
| 12019214 |
results suggest the presence of one or more genes on chromosome 5q33-34 that modify breast cancer risk in BRCA1 mutation carriers |
| 12427729 |
cell cycle differences in DNA damage-induced BRCA1 phosphorylation affect its subcellular localization |
| 12427738 |
analysis of the cancer-causing BRCA1-BRCT missense mutation and models of the protein |
| 15131400 |
BRCA1 mutations could not be detected among unrelated non-Ashkenazi-Jewish high risk families in Israel. |
| 15131401 |
Geographical clustering suggest a founder effect for particular BRCA1 mutations and gene carrier detection in French families with breast and ovarian cancer. |
| 15485898 |
we show a requirement for Rad17 and Hus1 to induce G(2) arrest as well as Vpr-induced phosphorylation of histone 2A variant X (H2AX) and formation of nuclear foci containing H2AX and breast cancer susceptibility protein 1 |
| 12928470 |
mutations in BRCA1 were associated with a sex ratio skewed against male births. |
| 15122325 |
single point mutations that disrupted the amino-terminal RING domain of BRCA1 caused significant suppression of cell growth |
| 15712267 |
The c.3862delG (3981delG) frameshift mutation (p.E1288fsX1306) is a novel gene alteration. |
| 15811849 |
BRCA1 contains at least two leucine-dependent nuclear export sequences |
| 15967981 |
BRCA1 is involved in secretion of certain paracrine/autocrine factors that induce mammary epithelial cell differentiation in response to extracellular matrix signals |
| 16168118 |
Mutational analysis of BRCA1/2 genes in 151 high-risk patients characterized the spectrum of gene alterations and demonstrated the dominant role of the BRCA1 c.5266dupC allele in hereditary breast and ovarian cancer. |
| 16168130 |
Weight loss in early adult life (age 18 to 30) protects against early-onset BRCA1 associated breast cancers. |
| 16283620 |
BRCA1 could play a role in telomere protection. |
| 16567799 |
xenobiotic (TCDD) treatments of breast cancer cells containing reduced levels of BRCA1 cause the transcription factor ARNT to become unstable |
| 16724273 |
Women who had developed breast cancer under the age of 40 and who were identified as BRCA1 or BRCA2 mutation carriers experienced devastation, loneliness and isolation. |
| 16914727 |
These results suggest that heregulin-mediated growth inhibition in HER4-postive breast cancer cells requires BRCA1. |
| 16969499 |
distinct single nucleotide changes in the BRCT domain of BRCA1 affect binding of this protein to the tumor suppressor p53 |
| 17047656 |
Data show that reduced BRCA1 expression owing to promoter hypermethylation is frequent in therapy-related acute myeloid leukemia and that this could contribute to secondary leukaemogenesis. |
| 17180310 |
The obtained results indicate that alteration in the RAD51 region may contribute to the disturbances of DNA repair involving RAD51 and BRCA1 and thus enhance the risk of breast cancer development. |
| 17545591 |
by combining multiple approaches to assess the genetics and epigenetics of a large series of BRCA1 primary tumors, we can conclude definitively that BRCA1 is not required for XIST RNA coating of the X chromosome |
| 11956590 |
germline mutations in breast and/or ovarian carcinoma patients |
| 12442274 |
Two novel mutations in BRCA1, 1584G>T and 5028delC, likely to be disease-associated, were identified in breast cancer patients in China. |
| 12442275 |
BRCA1 3857delT mutation was identified in breast cancer patients in Mexico. |
| 12509456 |
BRCA1 is downregulated by heregulin in the extracellular matrix in breast tumor cells |
| 12779087 |
Both nucleus and cytoplasmic BRCA1 protein staining were detected in cells using four different antibodies. |
| 12779088 |
The loss of the androgen receptor expression together with the observed loss of other steroid hormone receptors in BRCA1-mutated tumors may lead to a hormone-independent growth or to anti-hormone resistant growth of these tumors. |
| 11807777 |
Germline mutation in BRCA1 associated with hypersensitivity to radiation |
| 11877386 |
Structural determinants of BRCA1 translational regulation |
| 12086871 |
The BRCA1 suppressor hypothesis: an explanation for the tissue-specific tumor development in BRCA1 patients |
| 15170666 |
RAD51D polymorphism is not associated with BRCA1 or 2 genes in breast cancer. |
| 15208681 |
TRAP220 complex play an important role as putative co-activator complexes in BRCA1-mediated tumor suppression. |
| 12400015 |
These results demonstrate a novel pathogenic mechanism whereby mutations in BRCA1, via their interaction with ER-alpha, could promote tumorigenesis through the hormonal regulation of mammary epithelial cell proliferation and impaired VEGF function |
| 12440810 |
A substantial proportion of Mongolian women with ovarian cancer or early-onset breast cancer may be due to a founder BRCA1 mutation 3252delA. |
| 12576338 |
expression of the p210 BCR-ABL fusion protein leads to a down-regulation of BRCA1 protein, which is nearly undetectable in primary chronic myeloid leukemia cells |
| 14722926 |
Novel germline deleterious pathogenic, protein truncating frameshift and non-sense mutations were detected in exon 2, exon 11 of BRCA1 in breast-ovarian cancer families. |
| 13679996 |
Plays a role in breast cancer in conjunction with p53. |
| 15220350 |
Brca1 and Chk1 are regulated by MCPH1 during DNA damage in tumor cell lines |
| 15345109 |
We wanted to clarify the proportion of breast cancer attributable to mutations in BRCA1 in an unselected breast cancer population from the Stockholm region |
| 15345110 |
We report here the characterization of two novel BRCA1 mutations identified in families seen in our cancer risk evaluation clinic that alter splice donor sites of BRCA1 |
| 12229875 |
relation of gene to various cancers, especially breast and ovarian cancers |
| 12527903 |
role in heat shock response |
| 15104281 |
Our results suggest that there is a field effect of early genetic events preceding morphologic changes in the mammary glands of BRCA mutation carriers. |
| 15796958 |
There may be a genetic predisposition toward pancreatic neoplasms via BRCA1. |
| 16103751 |
BRCA1 promotes accurate DSB repair during various phases of the cell cycle [review] |
| 16123590 |
ASPM may be involved in mitotic spindle function, possibly, through regulation of BRCA1 |
| 16222692 |
Individuals receiving BRCA1 test results who learn that they are not carriers of a deleterious mutation for breast or ovasrian cancer may experience psychologic benefits. |
| 16543242 |
Normal amounts of BRCA1 function in hypoxia to regulate HIF-1alpha stability, probably by interacting with HIF-1alpha, leading to reduced levels of VEGF. |
| 16541315 |
epidemiologic study of BRCA1-positive breast cancers in young women from Poland |
| 16847550 |
Identification of 13 novel variants including two deleterious truncating mutations and two potentially pathogenic missense mutations on the BRCA1 and BRCA2 genes |
| 16940470 |
Role for BRCA1 in modulating estrogen biosynthesis in Adipose stem cells, contributing to its tissue-specific tumor suppressor function. |
| 16998498 |
Breast cancers arising in BRCA1 and BRCA2 mutation carriers appear to have specific pathological and gene expression profiles, which show a high level of concordance. BRCA1 tumors are high-grade and negative for hormone receptors. [REVIEW] |
| 16998499 |
Evidence for BRCA1 pathway dysfunction in sporadic basal-like breast cancers, and clinical significance of the basal-like phenotype for cancer genetics and treatment. [Review] |
| 16998500 |
Possible effects of BRCA1 transcriptional regulation on downstream targets with known roles in cell cycle control. [REVIEW] |
| 16998791 |
Findings show that BRCA1 mutations account for a substantial proportion of hereditary breast/ovarian cancer and early-onset breast and ovarian cancer cases in Pakistan. |
| 17020472 |
The P1812A and P25T BRCA1 mutations are not likely to be founder mutations in non-Ashkenazi Jewish families with high risk of breast and ovarian cancer. |
| 17106239 |
Repressors of BRCA1 expression may facilitate the development of strategies based on disruption of these interactions to rescue BRCA1 expression in human tumors. |
| 17161371 |
analysis of nonconserved residues that enforced p53 core domain binding with BRCA1-BRCT in a way similar to p53-53BP1 binding |
| 17229870 |
in response to irofulven, BRCA1 contributes to the control of S and G(2)/M cell cycle arrest and is critical for repairing DNA double-strand breaks and for RAD51-dependent homologous recombination |
| 17278098 |
deregulated expression of BRCA1-IRIS is likely to reduce dependence on normal physiological growth stimuli |
| 17324252 |
substantial levels of aberrant methylation, in the fluid from the breasts of healthy BRCA mutation carriers |
| 17420471 |
BRCA1 enzymatic activity regulates transcriptional repression, during which the ubiquitin moiety itself interferes with the assembly of basal transcription factors at the promoter. |
| 17616665 |
a direct physical interaction between BRCA1 and ATRIP is required for the checkpoint function of ATR |
| 11708324 |
BRCA1 protein can be evaluated by two-dimensional gene scanning and by single nucleotide polymorphism techniques. |
| 11836499 |
role in regulating G2M checkpoint by activating Chk1 kinase upon DNA damage |
| 11983207 |
Expression of BRCA1 and BRCA2 in different tumor cell lines with various growth status |
| 12024039 |
BRCA1 selectively coactivates the p53 transcription factor towards genes that direct DNA repair and cell cycle arrest but not towards those that direct apoptosis |
| 12607598 |
women aged less than 35 years with breast cancer have frequent loss of nuclear BRCA1 expression, which may be responsible for the specific tumor biology different from older women |
| 12938098 |
Fifteen novel BRCA1 mutations identified in breast and ovarian cancers may be deleterious cancer predisposing mutations. |
| 12773400 |
BRCA1 facilitates the ability of ATM and ATR to phosphorylate downstream substrates that directly influence cell cycle checkpoint arrest and apoptosis |
| 14507240 |
study from South India, on BRCA1, BRCA2 & CHEK2 mutations in patients with a family history of breast and/or ovarian cancer and early onset breast/ovarian cancer |
| 14732925 |
Heterozygosity for germ-line mutations in BRCA1 results in development of progesterone receptor A predominance. |
| 15041722 |
The estrogen receptor-negative status of these cancers may reflect the cell of origin of BRCA1-related breast cancers. |
| 15571721 |
the central region of BRCA1 may act as a long flexible scaffold for intermolecular interactions, thereby helping to integrate multiple signals in the DNA damage response pathway |
| 15876585 |
Mutation of the BRCA1 gene is associated with Czech ovarian cancer patients |
| 16088935 |
analysis of Alu element insertions within the BRCA1/2 coding sequences |
| 12082635 |
BRCA1 transactivates the cyclin-dependent kinase inhibitor p27(Kip1). This may be a mechanism for BRCA1- induced growth inhibition. |
| 16369438 |
The data suggest applying an increased level of clinical alertness to those with defects in BRCA-related pathways. |
| 12181777 |
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. |
| 12215251 |
eight of the most common reported missense mutations in BRCA1 and BRCA2 occurring in patients tested for hereditary risk of breast and ovarian cancers |
| 12640109 |
HMGA1 proteins are involved in transcriptional regulation of the BRCA1 gene, and their overexpression may have a role in BRCA1 downregulation observed in aggressive mammary carcinomas |
| 12872263 |
AS common deleterious frameshift mutations in unrelated Malay breast cancer patients with a common haplotype indicates a founder mutation in breast cancer patients of Malay ethnic background. |
| 14534301 |
the BRCT region of BRCA1 has a role in breast neoplasms |
| 15009718 |
BRCA1 downregulation in melanoma cells did not make them more aggressive and could lead to new therapeutic strategies for this tumor, which is so difficult to control once metastasized. |
| 15265711 |
Our findings identify a novel apoptosis inhibitory function of BARD1 and suggest that nuclear retention of BRCA1-BARD1 complexes contributes to both DNA repair and cell survival. |
| 16099593 |
Carboplatin caused slightly less damage at equimolar concentrations in cells than in cell-free BRCA1 fragment. |
| 12237897 |
Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. |
| 12419249 |
BRCA1 supports XIST localization, loss of BRCA1 in female cells may lead to Xi perturbation and destabilization of its silenced state. |
| 12682913 |
BRCA1 splice variants exhibit overlapping and distinct transcriptional transactivation activities in a non-tumorigenic mammary epithelial cell line |
| 14506230 |
interaction with processive RNA pol II in undamaged cells places BRCA1 in position to link late events in transcription with repair processes in eukaryotic cells |
| 15350310 |
M1628T had the same transcriptional activity as wild-type BRCA1 but V1804D and the empty vector control showed a 60% reduction. The latter is deleterious, the former is not. |
| 12362311 |
mutation sites of BRCA1 gene in Chinese patients with breast cancer |
| 12362976 |
germline mutations predisposing to breast and ovarian cancers in Upper Silesia population |
| 15133502 |
the X-ray crystal structure at a resolution of 1.85 A of the BRCA1 tandem BRCT domains in complex with a phosphorylated peptide representing the minimal interacting region of the DEAH-box helicase BACH1. |
| 15133503 |
the N-terminal repeat harbors a conserved BRCT phosphoserine-binding pocket, while the interface between the repeats forms a hydrophobic groove that recognizes the PHE; the structural integrity of both binding sites is essential for peptide recognition. |
| 11777930 |
BRCA1 can up-regulate its targeted genes through protein-protein interactions and provide a novel mechanism by which BRCA1 participates in transcriptional regulation. |
| 11933198 |
Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination. |
| 11933205 |
first evidence of a BRCA1 mutation specific to Native North Americans. |
| 12082091 |
Role of ERK1/2 in BRCA1-induced apoptosis |
| 12242698 |
recent findings regarding BRCA1 in breast cancer - review |
| 12592385 |
Inhibition of BRCA1 via overexpressing the RHA fragment coincides with a reduction in PARP-1 protein expression, suggesting a possible mechanism for BRCA1 in the maintenance of genomic integrity. |
| 12637547 |
BRCA1 is regulated by Ets-2 and components of mammalian SWI/SNF |
| 15557806 |
C-terminal NMR structure of BRCA1 |
| 11793480 |
BRCA1 and BRCA2 mutations in Russian familial breast cancer |
| 12100744 |
BRCA1 exon 11 was studied by the protein truncation test, & BRCA1 exons 2, 3, 5, 13 & 20 by SSCP genomic DNA from early-onset breast cancer patients amplified by PCR. 3 frameshifts and a 12 bp duplication polymorphism were found. |
| 15970701 |
the BRCA1 promoter is positively regulated by 53BP1 |
| 14729053 |
Cancer-associated mutations in the BRCT domain of BRCA1 causes its cytoplasmic mislocalization. |
| 15173085 |
BRCA1 may have a role in pancreatic carcinogenesis of noninherited tumors |
| 12496474 |
BRCA1 upregulates DDB2 or XPC, with some evidence suggesting that p53 is involved in their regulation. |
| 12767038 |
A review of the genetics and expression of BRCA1, and its role in DNA damage and repair in its normal state. |
| 16026807 |
BRCA1 mutations and polymorphisms were evaluated in a hospital-based consecutive series of breast cancer patients in Italy. |
| 16462151 |
Prophylactic salpingo-oophorectomies from women with BRCA mutations (BRCA+) have identified the tube as a frequent site of early pelvic serous carcinoma (tubal intraepithelial carcinoma [TIC]). |
| 16533773 |
Low expression of BRCA1 was associated with colorectal cancer |
| 16677609 |
Our comparison of binding by wild-type and mutant domains indicates the sequence specificity of BRCA1-p53 interaction. |
| 16769276 |
BRCA1 mutation is common (9%) among unselected young breast cancer patients undergoing BCT. |
| 16905680 |
Testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing predicts prevalence of breast and ovarian cancer. |
| 16949048 |
analysis of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC |
| 17018160 |
BRCA1 mutations appear to account for a lower proportion of breast cancer patients at increased risk of harboring such mutations in Northern India |
| 17148771 |
BRCA1 and BRCA2 mutations may be more frequent in general populations than previously thought and may be associated with various types of cancers. |
| 17333343 |
Our findings suggest that in Central Sudan BRCA1/2 represent an important etiological factor of breast cancer in males and young women less exposed to pregnancy and lactation. |
| 17445839 |
the genomic instability observed in normal cells from BRCA1 and BRCA2 mutation carriers is associated with a down-regulation of nuclear BRCA1 protein accumulation in dot like structures |
| 17525340 |
The RAP80-Abraxas complex may help recruit BRCA1 to DNA damage sites in part through recognition of ubiquitinated proteins |
| 17525341 |
data support a model wherein ubiquitin chains at DNA damage sites are used as a targeting mechanism by specific BRCA1 complexes; RAP80 may represent a new class of DNA repair proteins that uses tandem UIM domains as part of its recruitment to DSBs |
| 17525342 |
identification of receptor-associated protein 80 (RAP80) as a BRCA1-interacting protein in humans |
| 17616687 |
BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damage |
| 12815598 |
A putative splice site mutation (IVS6-2delA) in BRCA1 identified in a family attending a familial cancer center demonstrates a sequence variation that prevents normal splicing of the BRCA1 transcript and conveys an increased risk of breast cancer. |
| 12815604 |
Three novel disease-causing mutations identified in Chinese early onset breast cancer patients. |
| 12911720 |
None of the BRCA 1 or 2 mutations were detected in the ovarian neoplasm patient group. |
| 12030901 |
Three additional mutations are reported. |
| 11916966 |
complex with Nmi and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene promoter activity in breast cancer |
| 12464350 |
role in differentiation (review) |
| 14647419 |
inactivation of the FANC-BRCA pathway is relatively common in solid tumors and may be related to tobacco and alcohol exposure |
| 14647430 |
BRCA1/BARD1 heterodimer formation is important for optimal nuclear targeting of BARD1 and its role in DNA repair and cell survival. |
| 14647443 |
examined the fidelity of double-strand break repair in four lymphoblastoid cell lines with BRCA1 missense mutations |
| 14760071 |
BRCA1-associated breast cancers involve MYC in disease progression |
| 15087457 |
cytoplasmic relocalization of BRCA1 protein is a mechanism whereby BRCA1 function is regulated in response to DNA damage |
| 12748281 |
Results identify factors involved in regulating BRCA1 transcription. |
| 15283579 |
Known hereditary mutations in the BRCA gene can efficiently be analyzed in serum samples collected and stored over several decades |
| 14615451 |
Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations |
| 15990270 |
BRCA1 has two evolutionarily conserved noncoding regulatory sequences (CNS) in intron 2, 5 kb downstream of the core BRCA1 promoter. |
| 16229746 |
TP53 mutations in BRCA1 mutation carriers do not appear to have a role in progression of ovarian neoplasms |
| 16331276 |
identifies high expression of FOXA1 in breast cancer cell lines and tissues; role for BRCA1 in the regulation of p27(Kip1) transcription and a possible interaction with BRCA1 discovered |
| 16450717 |
Salpingo-oophorectomy, despite being quite a radical preventive method, might offer protection for the carriers against life-threatening silently-developing cancer. |
| 16479151 |
This review will survey the known ubiquitination substrates of BRCA1 and suggest how these reactions may influence the genomic stability and proliferation of breast cells. |
| 16619214 |
The effects of BRCA1 intron variants on mRNA splicing and expression. |
| 16698035 |
the whole BRCA1 protein interacts with ACCA when phosphorylated on Ser1263. |
| 16792513 |
No BRCA1/2 genomic rearrangements found in high-risk French-Canadian breast/ovarian cancer families. |
| 16818604 |
BRCA1 can regulate the functions of its substrates through nonproteasomal pathways that do not involve substrate degradation. |
| 16843109 |
The objective in this study was to determine the frequency of large genomic rearrangements in BRCA1 and BRCA2 in a large group of Danish families with increased risk of breast and ovarian cancer. |
| 16843262 |
Results suggest that, besides its role in maintaining genomic stability, BRCA1 directly regulates the expression of angiogenic factors to modulate the tumor microenvironment. |
| 16940443 |
Selective inhibition of aromatase expression by BRCA1 binding to the I.3/II tumorigenic promoter region may be an important protective mechanism against breast cancer development. |
| 16945238 |
BRCA1 is a tumor suppressor gene and is known to be responsible for breast cancer and breast-ovarian cancers running in families. |
| 17000754 |
Tumor cells having disruptions in BRCA1/2 network genes and TP53 together are more sensitive to cisplatin than cells with either disruption alone. |
| 17145961 |
These findings implicate BRCA1 in replication-linked maintenance of centric/pericentric heterochromatin and suggest a novel means whereby BRCA1 loss may contribute to genomic instability and cancer. |
| 17374731 |
We show that BRCA1, signal transducer and activator of transcription (STAT)-1, and STAT2 are all required for the induction of IRF-7 following stimulation with IFN-gamma. |
| 17505536 |
roles for BRCA1 in both mammary gland development and in tumor suppression against mutagen-induced mammary gland neoplasia |
| 17505559 |
BRCA1 was present in brain tissue of all cases of Alzheimer disease. |
| 8872468 |
The amino terminal RING finger motif and the granin consensus sequence are conserved between human, canine, and murine BRCA1 genes. |
| 15872055 |
Ab-1 is the most reliable antibody for detecting BRCA1 expression in formalin-fixed paraffin-embedded tissues |
| 15785095 |
BRCA1 is rarely expressed in breast cancer of Kuwaiti patients and correlates with parameters of poor prognosis |
| 12096901 |
solution properties of the highly conserved C terminus of BRCA1, consisting of a tandem repeat of the BRCT domain (BRCT-tan), that plays a critical role in BRCA1-mediated tumor suppression |
| 14710355 |
Transcriptional activity depends on p53 and this protein: inability of the mutant suppressor to repress IGF-IR expression result in increased IGF-IR levels and IGF binding. |
| 12470990 |
BRCA1 functions in the signaling of DNA damage and its repair by homologous recombination, nucleotide-excision repair and possibly non-homologous end-joining. (review) |
| 15285306 |
The occurrence of changes in BRCA1 gene mutation in women with familial ovarian cancer is more frequent than with familial breast neoplasms. |
| 12195423 |
specifically enhances the global genomic repair pathway, independent of p53, and can induce p53-independent expression of the nucleotide excision repair genes XPC, DDB2, and GADD45 |
| 12696073 |
Mutation in BRCA1 cause a frameshift and generates a premature stop codon at 903. |
| 15674350 |
a partial BRCA1 : estrogen receptor-alpha three-dimensional structure is proposed |
| 15066328 |
A mutation in a pedigree of an Asian/Filipino family, with breast cancer. |
| 14758382 |
BRCA1 gene polymorphism increase the risk for breast neoplasms in Jordanian women. |
| 12442273 |
Two novel BRCA1 splice variants, 331+1G>T and 4476+2T>C in breast cancer patients in India. |
| 12453858 |
Germline mutations in BRCA1 account for breast cancer predisposition in the majority of families. |
| 12024016 |
Following exposure to ionizing radiation (IR), the BRCA1-c-Abl complex is disrupted in an ATM-dependent manner, which correlates temporally with ATM-dependent phosphorylation of BRCA1 and ATM-dependent enhancement of the tyrosine kinase activity of c-Abl |
| 11462239 |
germline mutation analysis by RNA-based sequencing |
| 11462242 |
founder mutation in a highly homogeneous population from southern Italy |
