BRCA1

Summary

Gene Symbol: BRCA1
Description: BRCA1, DNA repair associated
Alias: BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53, breast cancer type 1 susceptibility protein, BRCA1/BRCA2-containing complex, subunit 1, Fanconi anemia, complementation group S, RING finger protein 53, breast and ovarian cancer susceptibility protein 1, breast cancer 1, early onset, early onset breast cancer 1, protein phosphatase 1, regulatory subunit 53
Species: human
Products:     BRCA1

Top Publications

  1. Yarden R, Metsuyanim S, Pickholtz I, Shabbeer S, Tellio H, Papa M. BRCA1-dependent Chk1 phosphorylation triggers partial chromatin disassociation of phosphorylated Chk1 and facilitates S-phase cell cycle arrest. Int J Biochem Cell Biol. 2012;44:1761-9 pubmed publisher
    ..The breast and ovarian tumor suppressor, BRCA1, is among several checkpoint mediators that are required for Chk1 activation by ATM and ATR...
  2. Wysham W, Mhawech Fauceglia P, Li H, Hays L, Syriac S, Skrepnik T, et al. BRCAness profile of sporadic ovarian cancer predicts disease recurrence. PLoS ONE. 2012;7:e30042 pubmed publisher
    ..HR) are not understood in sporadic ovarian cancer, nor have the potential role of HR proteins other than BRCA1 and BRCA2 been clearly defined...
  3. Galanty Y, Belotserkovskaya R, Coates J, Polo S, Miller K, Jackson S. Mammalian SUMO E3-ligases PIAS1 and PIAS4 promote responses to DNA double-strand breaks. Nature. 2009;462:935-9 pubmed publisher
    ..known as H2AFX) phosphorylation and the accumulation of proteins such as MDC1, 53BP1 (also known as TP53BP1), BRCA1, CtIP (also known as RBBP8), RNF8 and RNF168/RIDDLIN into ionizing radiation-induced foci (IRIF) that amplify DSB ..
  4. Di L, Fernandez A, De Siervi A, Longo D, Gardner K. Transcriptional regulation of BRCA1 expression by a metabolic switch. Nat Struct Mol Biol. 2010;17:1406-13 pubmed publisher
    Though the linkages between germline mutations of BRCA1 and hereditary breast cancer are well known, recent evidence suggests that altered BRCA1 transcription may also contribute to sporadic forms of breast cancer...
  5. De Siervi A, De Luca P, Byun J, Di L, Fufa T, Haggerty C, et al. Transcriptional autoregulation by BRCA1. Cancer Res. 2010;70:532-42 pubmed publisher
    The BRCA1 gene product plays numerous roles in regulating genome integrity...
  6. Hu Y, Scully R, Sobhian B, Xie A, Shestakova E, Livingston D. RAP80-directed tuning of BRCA1 homologous recombination function at ionizing radiation-induced nuclear foci. Genes Dev. 2011;25:685-700 pubmed publisher
    In response to DNA double-strand breaks (DSBs), BRCA1 forms biochemically distinct complexes with certain other DNA damage response proteins...
  7. Lavie O, Ben Arie A, Segev Y, Faro J, Barak F, Haya N, et al. BRCA germline mutations in women with uterine serous carcinoma--still a debate. Int J Gynecol Cancer. 2010;20:1531-4 pubmed publisher
    To determine the incidence of BRCA1 and BRCA2 mutations in an enlarged series of uterine serous carcinoma (USC) patients and to determine whether patients with USC are associated with a personal or familial history of breast or ovarian ..
  8. Sinilnikova O, Antoniou A, Simard J, Healey S, Léoné M, Sinnett D, et al. The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2009;101:1456-60 pubmed publisher
    ..and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis...
  9. Bouwman P, Aly A, Escandell J, Pieterse M, Bartkova J, van der Gulden H, et al. 53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers. Nat Struct Mol Biol. 2010;17:688-95 pubmed publisher
    Germ-line mutations in breast cancer 1, early onset (BRCA1) result in predisposition to breast and ovarian cancer. BRCA1-mutated tumors show genomic instability, mainly as a consequence of impaired recombinatorial DNA repair...

More Information

Publications768 found, 100 shown here

  1. Chang S, Wang R, Akagi K, Kim K, Martin B, Cavallone L, et al. Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. Nat Med. 2011;17:1275-82 pubmed publisher
    b>BRCA1, a well-known tumor suppressor with multiple interacting partners, is predicted to have diverse biological functions. However, so far its only well-established role is in the repair of damaged DNA and cell cycle regulation...
  2. Shabbeer S, Omer D, Berneman D, Weitzman O, Alpaugh A, Pietraszkiewicz A, et al. BRCA1 targets G2/M cell cycle proteins for ubiquitination and proteasomal degradation. Oncogene. 2013;32:5005-16 pubmed publisher
    The BRCA1 tumor suppressor protein heterodimerizes with its partner protein, BARD1, via the RING domain present in both proteins...
  3. Zhang F, Ma J, Wu J, Ye L, Cai H, Xia B, et al. PALB2 links BRCA1 and BRCA2 in the DNA-damage response. Curr Biol. 2009;19:524-9 pubmed publisher
    b>BRCA1 and BRCA2 are often mutated in familial breast and ovarian cancer. Both tumor suppressors play key roles in the DNA-damage response...
  4. Rutter J, Wacholder S, Chetrit A, Lubin F, Menczer J, Ebbers S, et al. Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study. J Natl Cancer Inst. 2003;95:1072-8 pubmed
    ..In studies from genetic screening clinics, women with mutations in the breast and ovarian susceptibility genes BRCA1 and BRCA2 have been found to have a low risk of peritoneal carcinoma in the first years after bilateral ..
  5. Manke I, Lowery D, Nguyen A, Yaffe M. BRCT repeats as phosphopeptide-binding modules involved in protein targeting. Science. 2003;302:636-9 pubmed
    ..Using a library of partially degenerate phosphopeptides, we identified tandem BRCT (BRCA1 carboxyl-terminal) domains in PTIP (Pax transactivation domain-interacting protein) and in BRCA1 as phosphoserine- ..
  6. Martin R, Orelli B, Yamazoe M, Minn A, Takeda S, Bishop D. RAD51 up-regulation bypasses BRCA1 function and is a common feature of BRCA1-deficient breast tumors. Cancer Res. 2007;67:9658-65 pubmed
    The breast cancer susceptibility gene BRCA1 encodes a large protein thought to contribute to a variety of cellular processes, although the critical determinants of BRCA1-deficient tumorigenesis remain unclear...
  7. Wang Y, Cortez D, Yazdi P, Neff N, Elledge S, Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 2000;14:927-39 pubmed
    We report the identities of the members of a group of proteins that associate with BRCA1 to form a large complex that we have named BASC (BRCA1-associated genome surveillance complex)...
  8. Edwards S, Kote Jarai Z, Meitz J, Hamoudi R, Hope Q, Osin P, et al. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet. 2003;72:1-12 pubmed
    ..These results confirm that BRCA2 is a high-risk prostate-cancer-susceptibility gene and have potential implications for the management of early-onset prostate cancer, in both patients and their relatives. ..
  9. Mullineaux L, Castellano T, Shaw J, Axell L, Wood M, Diab S, et al. Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado. Cancer. 2003;98:597-602 pubmed
    Germline mutations in the BRCA1 and BRCA2 genes are associated with an inherited predisposition to breast and ovarian carcinoma, and specific mutations in these genes are found at increased frequency in certain populations...
  10. Eakin C, MacCoss M, Finney G, Klevit R. Estrogen receptor alpha is a putative substrate for the BRCA1 ubiquitin ligase. Proc Natl Acad Sci U S A. 2007;104:5794-9 pubmed
    The breast cancer suppressor protein, BRCA1, is a ubiquitin ligase expressed in a wide range of tissues...
  11. Hiraike H, Wada Hiraike O, Nakagawa S, Koyama S, Miyamoto Y, Sone K, et al. Identification of DBC1 as a transcriptional repressor for BRCA1. Br J Cancer. 2010;102:1061-7 pubmed publisher
    ..Hereditary breast and ovarian cancer susceptibility gene product BRCA1, by binding to the promoter region of SIRT1, is a positive regulator of SIRT1 expression...
  12. Hartman A, Kaldate R, Sailer L, Painter L, Grier C, Endsley R, et al. Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer. Cancer. 2012;118:2787-95 pubmed publisher
    This study assessed BRCA1 and BRCA2 mutation prevalence in an unselected cohort of patients with triple-negative breast cancer (BC). One hundred ninety-nine patients were enrolled...
  13. Zou J, Rezvani K, Wang H, Lee K, Zhang D. BRCA1 downregulates the kinase activity of Polo-like kinase 1 in response to replication stress. Cell Cycle. 2013;12:2255-65 pubmed publisher
    ..The signaling pathway to inhibit CDKs is relatively well understood, and breast cancer gene 1 (BRCA1) and other DNA damage response (DDR) factors play a key role in this process...
  14. Xu C, Brown M, Chambers J, Griffiths B, Nicolai H, Solomon E. Distinct transcription start sites generate two forms of BRCA1 mRNA. Hum Mol Genet. 1995;4:2259-64 pubmed
    Using primer extension and 5' RACE, we have mapped the 5' end of the BRCA1 gene and identified a new 5' exon...
  15. Starita L, Parvin J. Substrates of the BRCA1-dependent ubiquitin ligase. Cancer Biol Ther. 2006;5:137-41 pubmed
    Discovering the precise function of the breast and ovarian specific tumor suppressor, BRCA1, has proven to be quite complicated. It has been determined that BRCA1, together with BARD1, comprise an E3 ubiquitin ligase...
  16. Mai P, Chatterjee N, Hartge P, Tucker M, Brody L, Struewing J, et al. Potential excess mortality in BRCA1/2 mutation carriers beyond breast, ovarian, prostate, and pancreatic cancers, and melanoma. PLoS ONE. 2009;4:e4812 pubmed publisher
    Although the increase in risk of developing breast, ovarian, and prostate cancer in BRCA1 and BRCA2 mutation carriers has been studied extensively, its impact on mortality is not well quantified...
  17. Neish A, Anderson S, Schlegel B, Wei W, Parvin J. Factors associated with the mammalian RNA polymerase II holoenzyme. Nucleic Acids Res. 1998;26:847-53 pubmed
    ..Earlier experiments have demonstrated that the breast cancer-associated tumor suppressor BRCA1 and the CREB binding protein (CBP) were associated with the holoenzyme complex...
  18. Lou Z, Minter Dykhouse K, Chen J. BRCA1 participates in DNA decatenation. Nat Struct Mol Biol. 2005;12:589-93 pubmed
    The tumor suppressor BRCA1 has an important function in the maintenance of genomic stability. Increasing evidence suggests that BRCA1 regulates cell cycle checkpoints and DNA repair after DNA damage...
  19. Gronwald J, Elsakov P, Gorski B, Lubinski J. High incidence of 4153delA BRCA1 gene mutations in Lithuanian breast- and breast-ovarian cancer families. Breast Cancer Res Treat. 2005;94:111-3 pubmed
    b>BRCA1 and BRCA2 gene mutations confer a high lifetime risk to breast and ovarian cancers...
  20. Horsburgh S, Matthew A, Bristow R, Trachtenberg J. Male BRCA1 and BRCA2 mutation carriers: a pilot study investigating medical characteristics of patients participating in a prostate cancer prevention clinic. Prostate. 2005;65:124-9 pubmed
    Male BRCA1 and BRCA2 mutation carriers are at an increased risk to develop prostate cancer and are subject to screening protocols for high-risk men...
  21. Lovelock P, Healey S, Au W, Sum E, Tesoriero A, Wong E, et al. Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. J Med Genet. 2006;43:74-83 pubmed
    The vast majority of BRCA1 missense sequence variants remain uncharacterized for their possible effect on protein expression and function, and therefore are unclassified in terms of their pathogenicity...
  22. Preisler Adams S, Schönbuchner I, Fiebig B, Welling B, Dworniczak B, Weber B. Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genet Cytogenet. 2006;168:44-9 pubmed
    ..breast and ovarian cancer families of German origin who had tested negative for small nucleotide alterations in BRCA1 and BRCA2 were analyzed for gross genomic rearrangements at the two gene loci by the multiplex ligation-dependent ..
  23. Sarkar M, Magliery T. Re-engineering a split-GFP reassembly screen to examine RING-domain interactions between BARD1 and BRCA1 mutants observed in cancer patients. Mol Biosyst. 2008;4:599-605 pubmed publisher
    ..for a heterodimeric four-helix bundle, and we chose the N-terminal RING domains of BARD1 and the tumor suppressor BRCA1 as our test system. The wild-type interaction failed to give fluorescence with the split sg100 GFP variant...
  24. Boukovinas I, Papadaki C, Mendez P, Taron M, Mavroudis D, Koutsopoulos A, et al. Tumor BRCA1, RRM1 and RRM2 mRNA expression levels and clinical response to first-line gemcitabine plus docetaxel in non-small-cell lung cancer patients. PLoS ONE. 2008;3:e3695 pubmed publisher
    Overexpression of RRM1 and RRM2 has been associated with gemcitabine resistance. BRCA1 overexpression increases sensitivity to paclitaxel and docetaxel...
  25. Jin Y, Xu X, Yang M, Wei F, Ayi T, Bowcock A, et al. Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains. Proc Natl Acad Sci U S A. 1997;94:12075-80 pubmed
    Germ-line mutations of the BRCA1 gene predispose women to early-onset breast and ovarian cancer by compromising the gene's presumptive function as a tumor suppressor...
  26. Chai Y, Cui J, Shao N, Shyam E, Reddy P, Rao V. The second BRCT domain of BRCA1 proteins interacts with p53 and stimulates transcription from the p21WAF1/CIP1 promoter. Oncogene. 1999;18:263-8 pubmed
    Inherited mutations in the breast and ovarian cancer susceptibility gene BRCA1 are associated with high risk for developing breast and ovarian cancers...
  27. Meza J, Brzovic P, King M, Klevit R. Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1. J Biol Chem. 1999;274:5659-65 pubmed
    Breast cancer 1 (BRCA1) and BRCA1-associated RING domain 1 (BARD1) are multidomain proteins that interact in vivo via their N-terminal RING finger motif regions...
  28. Shiozaki E, Gu L, Yan N, Shi Y. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol Cell. 2004;14:405-12 pubmed
    The recognition of the phosphorylated BACH1 helicase by the BRCA1 C-terminal (BRCT) repeats is important to the tumor suppressor function of BRCA1...
  29. Carvalho M, Marsillac S, Karchin R, Manoukian S, Grist S, Swaby R, et al. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res. 2007;67:1494-501 pubmed
    Germ line inactivating mutations in BRCA1 confer susceptibility for breast and ovarian cancer. However, the relevance of the many missense changes in the gene for which the effect on protein function is unknown remains unclear...
  30. Fong P, Boss D, Yap T, Tutt A, Wu P, Mergui Roelvink M, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009;361:123-34 pubmed publisher
    ..strategy for the treatment of cancers with specific DNA-repair defects, including those arising in carriers of a BRCA1 or BRCA2 mutation...
  31. Kim H, Cho D, Choi D, Choi S, Shin I, Park W, et al. Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. Breast Cancer Res Treat. 2012;134:1315-26 pubmed publisher
    This investigation is aimed at evaluating the epidemiologic characteristics of BRCA1/2 germline mutations in Korean patients with breast and ovarian cancer (BOC)...
  32. Dufloth R, Carvalho S, Heinrich J, Shinzato J, Dos Santos C, Zeferino L, et al. Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo Med J. 2005;123:192-7 pubmed
    b>BRCA1 and BRCA2 are the two principal hereditary breast cancer susceptibility genes, and the prevalence of their mutations among Brazilian women is unknown...
  33. Yuli C, Shao N, Rao R, Aysola P, Reddy V, Oprea llies G, et al. BRCA1a has antitumor activity in TN breast, ovarian and prostate cancers. Oncogene. 2007;26:6031-7 pubmed
    Breast cancer gene 1 (BRCA1) mutations predispose women to breast and ovarian cancers and men to increased risks for prostate cancer...
  34. Konstantopoulou I, Rampias T, Ladopoulou A, Koutsodontis G, Armaou S, Anagnostopoulos T, et al. Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients. Breast Cancer Res Treat. 2008;107:431-41 pubmed
    127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing...
  35. Zhou Y, Sun Q, Lin S, Wang J, Liu B, Li J, et al. [Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people]. Zhonghua Yi Xue Za Zhi. 2004;84:294-8 pubmed
    To detect BRCA1 and BRCA2 gene germline mutation in the Chinese breast cancer families...
  36. Chiba N, Parvin J. Redistribution of BRCA1 among four different protein complexes following replication blockage. J Biol Chem. 2001;276:38549-54 pubmed
    The BRCA1 protein is known to participate in multiple cellular processes. In these experiments, we resolved four distinct BRCA1-containing complexes...
  37. Goffin J, Chappuis P, Begin L, Wong N, Brunet J, Hamel N, et al. Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data. Cancer. 2003;97:527-36 pubmed
    Overexpression of p53 has been associated with poor survival following breast carcinoma. BRCA1 interacts biochemically with p53 and may also contribute to poor outcome when constitutionally mutated...
  38. Rajkumar T, Soumittra N, Nancy N, Swaminathan R, Sridevi V, Shanta V. BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev. 2003;4:203-8 pubmed
    ..This study describes the use of DHPLC for mutation analysis for BRCA1, BRCA2 and CHEK2 (1100delC) in 22 patients with a family history of breast and/or ovarian cancer and early onset ..
  39. Rowling P, Cook R, Itzhaki L. Toward classification of BRCA1 missense variants using a biophysical approach. J Biol Chem. 2010;285:20080-7 pubmed publisher
    Carriers of germ line mutations in breast cancer susceptibility gene BRCA1 have an increased risk of developing breast and ovarian cancers; missense mutations have, however, been difficult to assess for disease association...
  40. Hedau S, Jain N, Husain S, Mandal A, Ray G, Shahid M, et al. Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res Treat. 2004;88:177-86 pubmed
    Mutations in breast cancer susceptibility genes, BRCA1 and BRCA2 account for more than 80% of hereditary breast and ovarian cancers...
  41. Evans D, Shenton A, Woodward E, Lalloo F, Howell A, Maher E. Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer. 2008;8:155 pubmed publisher
    The identification of a BRCA1 or BRCA2 mutation in familial breast cancer kindreds allows genetic testing of at risk relatives...
  42. Yan Y, Spieker R, Kim M, Stoeger S, Cowan K. BRCA1-mediated G2/M cell cycle arrest requires ERK1/2 kinase activation. Oncogene. 2005;24:3285-96 pubmed
    Germline mutations in the BRCA1 gene are associated with an increased susceptibility to the development of breast and ovarian cancers...
  43. Jeng Y, Cai Ng S, Li A, Furuta S, Chew H, Chen P, et al. Brca1 heterozygous mice have shortened life span and are prone to ovarian tumorigenesis with haploinsufficiency upon ionizing irradiation. Oncogene. 2007;26:6160-6 pubmed
    b>BRCA1 mutation carriers have an 85% lifetime risk of breast cancer and 60% for ovarian cancer...
  44. Feng Z, Kachnic L, Zhang J, Powell S, Xia F. DNA damage induces p53-dependent BRCA1 nuclear export. J Biol Chem. 2004;279:28574-84 pubmed
    The tumor suppressor gene BRCA1 plays an important role in the response to DNA damage. BRCA1 function is regulated by a variety of mechanisms including transcriptional control, phosphorylation, and protein-protein interactions...
  45. Brohet R, Goldgar D, Easton D, Antoniou A, Andrieu N, Chang Claude J, et al. Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol. 2007;25:3831-6 pubmed
    ..studies have shown that endogenous gonadal hormones play an important role in the etiology of breast cancer among BRCA1/2 mutation carriers. So far, little is known about the safety of exogenous hormonal use in mutation carriers...
  46. Weberpals J, Garbuio K, O Brien A, Clark Knowles K, Doucette S, Antoniouk O, et al. The DNA repair proteins BRCA1 and ERCC1 as predictive markers in sporadic ovarian cancer. Int J Cancer. 2009;124:806-15 pubmed publisher
    This study compares Breast Cancer 1 (BRCA1) and excision repair cross complementation group 1 (ERCC1) expression as predictive markers and evaluates the in vitro enhancement of platinum sensitivity using targeted agents in sporadic ..
  47. Kwong A, Ng E, Tang E, Wong C, Law F, Leung C, et al. A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer. Fam Cancer. 2011;10:233-7 pubmed publisher
    Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer...
  48. Dagan E, Cohen Y, Mory A, Adir V, Borochowitz Z, Raanani H, et al. BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study. Eur J Hum Genet. 2014;22:277-9 pubmed publisher
    ..This observation led to the interpretation that BRCA1/2 mutations are embryo-lethal, unless rescued by 'low FMR1 alleles'...
  49. Pao G, Janknecht R, Ruffner H, Hunter T, Verma I. CBP/p300 interact with and function as transcriptional coactivators of BRCA1. Proc Natl Acad Sci U S A. 2000;97:1020-5 pubmed
    b>BRCA1 is a breast and ovarian cancer-specific tumor suppressor, with properties of a transcription factor involved in DNA repair. We previously have shown the transactivation of heterologous promoters by the carboxyl terminus of BRCA1...
  50. Lynch H, Deters C, Snyder C, Lynch J, Villeneuve P, Silberstein J, et al. BRCA1 and pancreatic cancer: pedigree findings and their causal relationships. Cancer Genet Cytogenet. 2005;158:119-25 pubmed
    ..Our purpose is to call attention to BRCA1, which also predisposes to PC...
  51. Kennedy R, Gorski J, Quinn J, Stewart G, James C, Moore S, et al. BRCA1 and c-Myc associate to transcriptionally repress psoriasin, a DNA damage-inducible gene. Cancer Res. 2005;65:10265-72 pubmed
    Evidence is accumulating to suggest that some of the diverse functions associated with BRCA1 may relate to its ability to transcriptionally regulate key downstream target genes...
  52. Huen M, Grant R, Manke I, Minn K, Yu X, Yaffe M, et al. RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly. Cell. 2007;131:901-14 pubmed
    ..35 A. We have shown that RNF8 facilitates the accumulation of checkpoint mediator proteins BRCA1 and 53BP1 to the damaged chromatin, on one hand through the phospho-dependent FHA domain-mediated binding of RNF8 ..
  53. Lee E, McKean Cowdin R, Ma H, Spicer D, Van Den Berg D, Bernstein L, et al. Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. J Clin Oncol. 2011;29:4373-80 pubmed publisher
    ..These tumors have a poor prognosis, remain a clinical challenge, and are more common among women with BRCA1 mutations...
  54. Al Mulla F, Abdulrahman M, Varadharaj G, Akhter N, Anim J. BRCA1 gene expression in breast cancer: a correlative study between real-time RT-PCR and immunohistochemistry. J Histochem Cytochem. 2005;53:621-9 pubmed
    ..discrepancies concerning the usefulness of various antibodies in detecting breast cancer susceptibility gene 1 (BRCA1) protein and its subcellular localization...
  55. Chabalier Taste C, Racca C, Dozier C, Larminat F. BRCA1 is regulated by Chk2 in response to spindle damage. Biochim Biophys Acta. 2008;1783:2223-33 pubmed publisher
    Inherited mutations of the breast cancer susceptibility gene 1 (BRCA1) confer an increased risk for breast, ovarian and prostate cancer...
  56. Li D, Bi F, Cao J, Cao C, Li C, Yang Q. Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer. J Exp Clin Cancer Res. 2013;32:102 pubmed publisher
    Both BRCA1 and epidermal growth factor receptor (EGFR) play a critical role in ovarian cancer progression. However, the crosstalk between BRCA1 and EGFR signaling pathways in ovarian cancer remains largely unknown...
  57. Yarden R, Brody L. BRCA1 interacts with components of the histone deacetylase complex. Proc Natl Acad Sci U S A. 1999;96:4983-8 pubmed
    Germ-line mutations in the BRCA1 tumor-suppressor gene are associated with an increased susceptibility to breast and ovarian cancer...
  58. Scully R, Ganesan S, Vlasakova K, Chen J, Socolovsky M, Livingston D. Genetic analysis of BRCA1 function in a defined tumor cell line. Mol Cell. 1999;4:1093-9 pubmed
    Retrovirally expressed, wild-type BRCA1 decreased the gamma radiation (IR) sensitivity and increased the efficiency of double-strand DNA break repair (DSBR) of the BRCA1-/- human breast cancer line, HCC1937...
  59. Rauh Adelmann C, Lau K, Sabeti N, Long J, Mok S, Ho S. Altered expression of BRCA1, BRCA2, and a newly identified BRCA2 exon 12 deletion variant in malignant human ovarian, prostate, and breast cancer cell lines. Mol Carcinog. 2000;28:236-46 pubmed
    Germline mutations of BRCA1 and BRCA2 predispose to hereditary breast, ovarian, and possibly prostate cancer, yet structural mutations in these genes are infrequent in sporadic cancer cases...
  60. Jeffy B, Chirnomas R, Chen E, Gudas J, Romagnolo D. 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. Cancer Res. 2002;62:113-21 pubmed
    ..We conclude that activation of the aromatic hydrocarbon receptor is not sufficient for down-regulation of BRCA-1 transcription, which is, however, inhibited by the B[a]P metabolite BPDE through a p53-dependent pathway. ..
  61. Dever S, Golding S, Rosenberg E, Adams B, Idowu M, Quillin J, et al. Mutations in the BRCT binding site of BRCA1 result in hyper-recombination. Aging (Albany NY). 2011;3:515-32 pubmed
    We introduced a K1702M mutation in the BRCA1 BRCT domain known to prevent the binding of proteins harboring pS-X-X-F motifs such as Abraxas-RAP80, BRIP1, and CtIP...
  62. Frankenberg Schwager M, Gregus A. Chromosomal instability induced by mammography X-rays in primary human fibroblasts from BRCA1 and BRCA2 mutation carriers. Int J Radiat Biol. 2012;88:846-57 pubmed publisher
    ..breaks (DSB) whose error-free recombinational repair requires the function of the tumour repressor genes BRCA1 (breast-cancer-associated gene 1) and BRCA2 (breast-cancer-associated gene 2)...
  63. Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, et al. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet. 2000;66:1963-8 pubmed
    We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population...
  64. Snell C, Krypuy M, Wong E, Loughrey M, Dobrovic A. BRCA1 promoter methylation in peripheral blood DNA of mutation negative familial breast cancer patients with a BRCA1 tumour phenotype. Breast Cancer Res. 2008;10:R12 pubmed publisher
    Individuals with germline mutations in the BRCA1 gene have an elevated risk of developing breast cancer, and often display characteristic clinicopathological features...
  65. Pierce L, Phillips K, Griffith K, Buys S, Gaffney D, Moran M, et al. Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy. Breast Cancer Res Treat. 2010;121:389-98 pubmed publisher
    Women with BRCA1 and BRCA2 mutations have an elevated risk of breast cancer and ovarian cancer, but also of developing second primary breast cancer...
  66. Tung N, Miron A, Schnitt S, Gautam S, Fetten K, Kaplan J, et al. Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers. Breast Cancer Res. 2010;12:R95 pubmed publisher
    The majority of breast cancers that occur in BRCA1 mutation carriers (BRCA1 carriers) are estrogen receptor-negative (ER-)...
  67. Yazici H, Glendon G, Yazici H, Burnie S, Saip P, Buyru F, et al. BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases. Hum Mutat. 2002;20:28-34 pubmed
    Ovarian cancer is a clinically important cancer in Turkey. The contribution of BRCA1 and BRCA2 to ovarian cancer in Turkish patients has not previously been described...
  68. Kumar B, Lakhotia S, Ankathil R, Madhavan J, Jayaprakash P, Nair M, et al. Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families. Cancer Biol Ther. 2002;1:18-21 pubmed
    ..to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2...
  69. Bae I, Fan S, Meng Q, Rih J, Kim H, Kang H, et al. BRCA1 induces antioxidant gene expression and resistance to oxidative stress. Cancer Res. 2004;64:7893-909 pubmed
    Mutations of the breast cancer susceptibility gene 1 (BRCA1), a tumor suppressor, confer an increased risk for breast, ovarian, and prostate cancers...
  70. Bartz S, Zhang Z, Burchard J, Imakura M, Martin M, Palmieri A, et al. Small interfering RNA screens reveal enhanced cisplatin cytotoxicity in tumor cells having both BRCA network and TP53 disruptions. Mol Cell Biol. 2006;26:9377-86 pubmed
    ..of the hits from the cisplatin enhancer screen and validated a number of enhancers whose products interact with BRCA1 and/or BRCA2...
  71. Ma Y, Hu C, Riegel A, Fan S, Rosen E. Growth factor signaling pathways modulate BRCA1 repression of estrogen receptor-alpha activity. Mol Endocrinol. 2007;21:1905-23 pubmed
    The breast cancer susceptibility gene BRCA1 is mutated in about one half of all hereditary breast cancer cases, and its expression is frequently decreased in sporadic cancers...
  72. Collins L, Martyniak A, Kandel M, Stadler Z, Masciari S, Miron A, et al. Basal cytokeratin and epidermal growth factor receptor expression are not predictive of BRCA1 mutation status in women with triple-negative breast cancers. Am J Surg Pathol. 2009;33:1093-7 pubmed publisher
    Over 80% of breast cancers in women with germline BRCA1 mutations are estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2-negative ("triple negative") and most of these have a basal-like ..
  73. Guendel I, Carpio L, Pedati C, Schwartz A, Teal C, Kashanchi F, et al. Methylation of the tumor suppressor protein, BRCA1, influences its transcriptional cofactor function. PLoS ONE. 2010;5:e11379 pubmed publisher
    Approximately half of hereditary breast cancers have mutations in either BRCA1 or BRCA2...
  74. Eerola H, Vahteristo P, Sarantaus L, Kyyronen P, Pyrhonen S, Blomqvist C, et al. Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland. Int J Cancer. 2001;93:368-72 pubmed
    ..We assessed the survival rates of 359 familial breast cancer patients (32 patients from BRCA1-positive families, 43 patients from BRCA2-positive families and 284 patients from BRCA1/2-negative breast cancer ..
  75. Ottini L, Masala G, D Amico C, Mancini B, Saieva C, Aceto G, et al. BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy. Cancer Res. 2003;63:342-7 pubmed
    To investigate at the population level the impact of BRCA1/BRCA2 gene alterations in male breast cancer, we analyzed a population-based series of 25 male breast cancer cases from Florence, Central Italy...
  76. Simchoni S, Friedman E, Kaufman B, Gershoni Baruch R, Orr Urtreger A, Kedar Barnes I, et al. Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A. 2006;103:3770-4 pubmed
    Inherited mutations in BRCA1 and BRCA2 lead to significantly increased risks of breast and ovarian cancer. We used epidemiologic methods to evaluate the relative risks of breast cancer vs...
  77. da Costa E, Vargas F, Moreira A, Lourenço J, Caleffi M, Ashton Prolla P, et al. Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome. Cancer Genet Cytogenet. 2008;184:62-6 pubmed publisher
    The 5382insC mutation in BRCA1 is a frequently reported mutation, being very prevalent in Central and Eastern Europe...
  78. Spurdle A, Whiley P, Thompson B, Feng B, Healey S, Brown M, et al. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet. 2012;49:525-32 pubmed
    Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of individuals carrying these variants...
  79. Feliubadaló L, Lopez Doriga A, Castellsagué E, del Valle J, Menendez M, Tornero E, et al. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet. 2013;21:864-70 pubmed publisher
    ..for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA1 and BRCA2...
  80. Zhang X, Wei J, Zhou L, Zhou C, Shi J, Yuan Q, et al. A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma. Carcinogenesis. 2013;34:2309-13 pubmed publisher
    As a tumor suppressor, breast cancer susceptibility gene 1 (BRCA1) plays a pivotal role in maintaining genomic stability...
  81. Kirchhoff T, Satagopan J, Kauff N, Huang H, Kolachana P, Palmer C, et al. Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. J Natl Cancer Inst. 2004;96:68-70 pubmed
    Mutations in BRCA1 and BRCA2 that predispose to breast and ovarian cancer are detected in approximately 2.5% of the Ashkenazi Jewish population...
  82. Gorski J, Savage K, Mulligan J, McDade S, Blayney J, Ge Z, et al. Profiling of the BRCA1 transcriptome through microarray and ChIP-chip analysis. Nucleic Acids Res. 2011;39:9536-48 pubmed publisher
    A role for BRCA1 in the direct and indirect regulation of transcription is well established. However, a comprehensive view of the degree to which BRCA1 impacts transcriptional regulation on a genome-wide level has not been defined...
  83. Colombo M, Blok M, Whiley P, Santamariña M, Gutierrez Enriquez S, Romero A, et al. Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Hum Mol Genet. 2014;23:3666-80 pubmed publisher
    Loss-of-function germline mutations in BRCA1 (MIM #113705) confer markedly increased risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in DNA repair pathways and cell-cycle checkpoints...
  84. Ouchi T, Monteiro A, August A, Aaronson S, Hanafusa H. BRCA1 regulates p53-dependent gene expression. Proc Natl Acad Sci U S A. 1998;95:2302-6 pubmed
    Mutations in BRCA1 are present in 45% of families that segregate with susceptibility for breast cancer and in 80-90% of families with both breast and ovarian cancer...
  85. Waddell N, Ten Haaf A, Marsh A, Johnson J, Walker L, Gongora M, et al. BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. PLoS Genet. 2008;4:e1000080 pubmed publisher
    ..We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer cases whose disease was ..
  86. Tesoriero A, Andersen C, Southey M, Somers G, McKay M, Armes J, et al. De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet. 1999;65:567-9 pubmed