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. 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...
  8. 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...
  9. 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...

More Information

Publications683 found, 100 shown here

  1. 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...
  2. 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...
  3. . The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. Am J Hum Genet. 2000;67:207-12 pubmed
    Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family...
  4. McPherson J, Hande M, Poonepalli A, Lemmers B, Zablocki E, Migon E, et al. A role for Brca1 in chromosome end maintenance. Hum Mol Genet. 2006;15:831-8 pubmed
    The role of BRCA1 in breast and ovarian tumor suppression has been primarily ascribed to the maintenance of genome integrity...
  5. Fattahi M, Mojtahedi Z, Karimaghaee N, Talei A, Banani S, Ghaderi A. Analysis of BRCA1 and BRCA2 mutations in southern Iranian Breast cancer patients. Arch Iran Med. 2009;12:584-7 pubmed
    The germline mutations of breast cancer susceptibility genes 1 (BRCA1) and breast cancer susceptibility genes 1 (BRCA2) have been associated with a significant increase in breast cancer risk and certain other cancers...
  6. Martinez Outschoorn U, Balliet R, Lin Z, Whitaker Menezes D, Howell A, Sotgia F, et al. Hereditary ovarian cancer and two-compartment tumor metabolism: epithelial loss of BRCA1 induces hydrogen peroxide production, driving oxidative stress and NF?B activation in the tumor stroma. Cell Cycle. 2012;11:4152-66 pubmed publisher
    Mutations in the BRCA1 tumor suppressor gene are commonly found in hereditary ovarian cancers...
  7. Greenberg R, Sobhian B, Pathania S, Cantor S, Nakatani Y, Livingston D. Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes. Genes Dev. 2006;20:34-46 pubmed
    The BRCA1 gene product and its stoichiometric binding partner, BARD1, play a vital role in the cellular response to DNA damage. However, how they acquire specific biochemical functions after DNA damage is poorly understood...
  8. Sokolenko A, Mitiushkina N, Buslov K, Bit Sava E, Iyevleva A, Chekmariova E, et al. High frequency of BRCA1 5382insC mutation in Russian breast cancer patients. Eur J Cancer. 2006;42:1380-4 pubmed
    b>BRCA1 5382insC variant was repeatedly detected in Jewish breast cancer (BC) families residing in USA and Israel as well as in non-Jewish familial BC patients from Poland, Latvia, Hungary, Russia and some other European countries...
  9. Zhang F, Fan Q, Ren K, Andreassen P. PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. Mol Cancer Res. 2009;7:1110-8 pubmed publisher
    b>BRCA1 and BRCA2 are prominently associated with inherited breast and ovarian cancer. The encoded proteins function in DNA damage responses, but no functional link between BRCA1 and BRCA2 has been established...
  10. Cao W, Wang X, Gao Y, Yang H, Li J. BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer. Anat Rec (Hoboken). 2013;296:273-8 pubmed publisher
    Although several studies detected the BRCA1 germ-line mutations in Chinese women with familial breast cancer, most of them did not employ conventional full gene sequencing, especially in eastern China...
  11. Struewing J, Abeliovich D, Peretz T, Avishai N, Kaback M, Collins F, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995;11:198-200 pubmed
    Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian cancer...
  12. Kleiman F, Manley J. The BARD1-CstF-50 interaction links mRNA 3' end formation to DNA damage and tumor suppression. Cell. 2001;104:743-53 pubmed
    The mRNA polyadenylation factor CstF interacts with the BRCA1-associated protein BARD1, and this interaction represses the nuclear mRNA polyadenylation machinery in vitro...
  13. Spurdle A, Hopper J, Chen X, Dite G, Cui J, McCredie M, et al. The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiol Biomarkers Prev. 2002;11:413-6 pubmed
    ..after excluding women with any non-Caucasian ancestry or the 33 cases known to have inherited a mutation in BRCA1 or BRCA2, and would explain approximately 3% of breast cancer...
  14. Palli D, Masala G, Mariani Costantini R, Zanna I, Saieva C, Sera F, et al. A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer?. Eur J Cancer. 2004;40:2474-9 pubmed
    The association of male breast cancer (MBC) with a positive breast cancer (BC) family history and with BRCA1/2 germ-line mutations points to a genetic component; a relationship with occupation has also been reported...
  15. Liu X, Holstege H, van der Gulden H, Treur Mulder M, Zevenhoven J, Velds A, et al. Somatic loss of BRCA1 and p53 in mice induces mammary tumors with features of human BRCA1-mutated basal-like breast cancer. Proc Natl Acad Sci U S A. 2007;104:12111-6 pubmed
    Women carrying germ-line mutations in BRCA1 are strongly predisposed to developing breast cancers with characteristic features also observed in sporadic basal-like breast cancers...
  16. Dizin E, Ray H, Suau F, Voeltzel T, Dalla Venezia N. Caspase-dependent BRCA1 cleavage facilitates chemotherapy-induced apoptosis. Apoptosis. 2008;13:237-46 pubmed
    b>BRCA1 acts as a tumor suppressor gene, and germ-line mutations in this gene are found in a large proportion of families with breast and ovarian cancers...
  17. Litwiniuk M, Roznowski K, Filas V, Godlewski D, Stawicka M, Kaleta R, et al. Expression of estrogen receptor beta in the breast carcinoma of BRCA1 mutation carriers. BMC Cancer. 2008;8:100 pubmed publisher
    Breast cancers (BC) in women carrying mutations in BRCA1 gene are more frequently estrogen receptor negative than the nonhereditary BC...
  18. Thomassen M, Hansen T, Borg A, Lianee H, Wikman F, Pedersen I, et al. BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. Acta Oncol. 2008;47:772-7 pubmed publisher
    A national study of BRCA1 and BRCA2 mutations in Danish HBOC (Hereditary Breast Ovarian Cancer) families revealed a total number of 322 mutation positive families, 206 (64%) BRCA1 and 116 (36%) BRCA2 positive families from a population ..
  19. Al Moghrabi N, Al Qasem A, Aboussekhra A. Methylation-related mutations in the BRCA1 promoter in peripheral blood cells from cancer-free women. Int J Oncol. 2011;39:129-35 pubmed publisher
    ..study, we aimed to investigate the epigenetic modifications of the breast cancer type 1 susceptibility gene (BRCA1) in breast tissues and blood cells derived from women with breast cancer and women without breast cancer...
  20. Deng C, Ueda E, Chen K, Bula C, Norman A, Luben R, et al. Prolactin blocks nuclear translocation of VDR by regulating its interaction with BRCA1 in osteosarcoma cells. Mol Endocrinol. 2009;23:226-36 pubmed publisher
    ..P250 was identified as the breast cancer tumor suppressor gene product, BRCA1, by Western blot of the VDR immunoprecipitate and confirmed by immunoprecipitation with anti-BRCA1 and blotting ..
  21. Couch F, Weber B. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. Hum Mutat. 1996;8:8-18 pubmed
    Mutations in the familial early-onset breast cancer gene (BRCA1) account for approximately 2-5% of all breast cancer cases (Easton et al., 1993). Since the isolation of the BRCA1 gene in 1994, many mutations have been identified...
  22. Jernstrom H, Lubinski J, Lynch H, Ghadirian P, Neuhausen S, Isaacs C, et al. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2004;96:1094-8 pubmed
    ..breast-feeding is associated with a reduced risk of hereditary breast cancer in women who carry deleterious BRCA1 and BRCA2 mutations is currently unknown...
  23. Gorski B, Menkiszak J, Gronwald J, Lubinski J, Narod S. A protein truncating BRCA1 allele with a low penetrance of breast cancer. J Med Genet. 2004;41:e130 pubmed
  24. Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al. The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2007;16:270-5 pubmed
    Breast and ovarian cancer penetrance in BRCA1 mutation carriers is estimated to be between 15% and 80% by age 70 years...
  25. Ogiwara H, Kohno T. CBP and p300 histone acetyltransferases contribute to homologous recombination by transcriptionally activating the BRCA1 and RAD51 genes. PLoS ONE. 2012;7:e52810 pubmed publisher
    ..Here, we show that CBP and p300 HATs also function in DSB repair by transcriptionally activating the BRCA1 and RAD51 genes, which are involved in homologous recombination (HR), a major DSB repair system...
  26. Houvras Y, Benezra M, Zhang H, Manfredi J, Weber B, Licht J. BRCA1 physically and functionally interacts with ATF1. J Biol Chem. 2000;275:36230-7 pubmed
    b>BRCA1, a breast and ovarian cancer susceptibility gene, encodes a 220-kDa protein whose precise biochemical function remains unclear. BRCA1 contains an N-terminal RING finger that mediates protein-protein interaction...
  27. Lorick K, Jensen J, Fang S, Ong A, Hatakeyama S, Weissman A. RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination. Proc Natl Acad Sci U S A. 1999;96:11364-9 pubmed
    ..Several otherwise-unrelated RING finger proteins, including BRCA1, Siah-1, TRC8, NF-X1, kf-1, and Praja1, were assessed for their ability to facilitate E2-dependent ubiquitination...
  28. Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst. 2001;93:1215-23 pubmed
    b>BRCA1 and BRCA2 are the two major susceptibility genes involved in hereditary breast cancer...
  29. Zhan Q, Jin S, Ng B, Plisket J, Shangary S, Rathi A, et al. Caspase-3 mediated cleavage of BRCA1 during UV-induced apoptosis. Oncogene. 2002;21:5335-45 pubmed
    The breast cancer suppressor protein, BRCA1 plays an important role in mediating cell cycle arrest, apoptosis and DNA responses to DNA damage signals...
  30. Robson M, Chappuis P, Satagopan J, Wong N, Boyd J, Goffin J, et al. A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res. 2004;6:R8-R17 pubmed
    The prognostic significance of germline mutations in BRCA1 and BRCA2 in women with breast cancer remains unclear. A combined analysis was performed to address this uncertainty...
  31. Rodriguez J, Au W, Henderson B. Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain. Exp Cell Res. 2004;293:14-21 pubmed
    b>BRCA1 is inactivated by gene mutations in >50% of familial breast and ovarian cancers. BRCA1 is primarily a nuclear protein, although others previously reported cytoplasmic staining in breast tumor cells...
  32. Choi D, Lee M, Bale A, Carter D, Haffty B. Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol. 2004;22:1638-45 pubmed
    ..Lymphocyte specimens from peripheral blood were processed for BRCA1 and BRCA2 by complete sequencing. Family history through three generations was obtained...
  33. Christensen D, Brzovic P, Klevit R. E2-BRCA1 RING interactions dictate synthesis of mono- or specific polyubiquitin chain linkages. Nat Struct Mol Biol. 2007;14:941-8 pubmed
    ..strategy, we discovered six previously unidentified interactions between the human heterodimeric RING E3 BRCA1-BARD1 and the human E2s UbcH6, Ube2e2, UbcM2, Ubc13, Ube2k and Ube2w...
  34. Xie J, Litman R, Wang S, Peng M, Guillemette S, Rooney T, et al. Targeting the FANCJ-BRCA1 interaction promotes a switch from recombination to poleta-dependent bypass. Oncogene. 2010;29:2499-508 pubmed publisher
    b>BRCA1 and the DNA helicase FANCJ (also known as BACH1 or BRIP1) have common functions in breast cancer suppression and DNA repair. However, the functional significance of the direct interaction between BRCA1 and FANCJ remains unclear...
  35. Xiang T, Jia Y, Sherris D, Li S, Wang H, Lu D, et al. Targeting the Akt/mTOR pathway in Brca1-deficient cancers. Oncogene. 2011;30:2443-50 pubmed publisher
    The breast cancer susceptibility gene 1 (Brca1) has a key role in both hereditary and sporadic mammary tumorigenesis. However, the reasons why Brca1-deficiency leads to the development of cancer are not clearly understood...
  36. Steffensen A, Dandanell M, Jønson L, Ejlertsen B, Gerdes A, Nielsen F, et al. Functional characterization of BRCA1 gene variants by mini-gene splicing assay. Eur J Hum Genet. 2014;22:1362-8 pubmed publisher
    Mutational screening of the breast cancer susceptibility gene BRCA1 leads to the identification of numerous pathogenic variants such as frameshift and nonsense variants, as well as large genomic rearrangements...
  37. Vidarsson H, Mikaelsdottir E, Rafnar T, Bertwistle D, Ashworth A, Eyfjord J, et al. BRCA1 and BRCA2 bind Stat5a and suppress its transcriptional activity. FEBS Lett. 2002;532:247-52 pubmed
    Germline mutations in the breast cancer susceptibility genes, BRCA1 and BRCA2, are thought to account for a large portion of familial breast cancer...
  38. Kang H, Kim H, Kim S, Barouki R, Cho C, Khanna K, et al. BRCA1 modulates xenobiotic stress-inducible gene expression by interacting with ARNT in human breast cancer cells. J Biol Chem. 2006;281:14654-62 pubmed
    Previously, we have reported that BRCA1 regulates the expression of various classes of genes, including genes involved in xenobiotic stress responses (Bae, I., Fan, S., Meng, Q., Rih, J. K., Kim, H. J., Kang, H. J., Xu, J., Goldberg, I...
  39. Vasilatos S, Broadwater G, Barry W, Baker J, Lem S, Dietze E, et al. CpG island tumor suppressor promoter methylation in non-BRCA-associated early mammary carcinogenesis. Cancer Epidemiol Biomarkers Prev. 2009;18:901-14 pubmed publisher
    Only 5% of all breast cancers are the result of BRCA1/2 mutations. Methylation silencing of tumor suppressor genes is well described in sporadic breast cancer; however, its role in familial breast cancer is not known...
  40. Ricci M, Pennese L, Gismondi V, Perfumo C, Grasso M, Gennaro E, et al. The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations. Eur J Hum Genet. 2014;22:280-2 pubmed publisher
    ..997) and no difference in the FMR1 genotype distribution was present (?(2)=0.503, d.f.=2, P=0.78). This result is in contrast with literature data and suggests that FMR1 genetic testing is not a candidate BRCA prescreening tool. ..
  41. Schwartz M, Peshkin B, Hughes C, Main D, Isaacs C, Lerman C. Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol. 2002;20:514-20 pubmed
    Despite the increasingly widespread availability of BRCA1 and BRCA2 genetic testing, little is known about the psychologic impact of such testing in the clinical setting...
  42. Saxena S, Szabo C, Chopin S, Barjhoux L, Sinilnikova O, Lenoir G, et al. BRCA1 and BRCA2 in Indian breast cancer patients. Hum Mutat. 2002;20:473-4 pubmed
    ..Although identification of BRCA1 and BRCA2 has greatly increased our understanding of breast cancer genetics in populations of Western European ..
  43. Ganesan S, Silver D, Drapkin R, Greenberg R, Feunteun J, Livingston D. Association of BRCA1 with the inactive X chromosome and XIST RNA. Philos Trans R Soc Lond B Biol Sci. 2004;359:123-8 pubmed
    Breast cancer, early onset 1 (BRCA1) encodes a nuclear protein that participates in breast and ovarian cancer suppression. The molecular basis for the gender and tissue specificity of the BRCA1 cancer syndrome is unknown...
  44. Coene E, Hollinshead M, Waeytens A, Schelfhout V, Eechaute W, Shaw M, et al. Phosphorylated BRCA1 is predominantly located in the nucleus and mitochondria. Mol Biol Cell. 2005;16:997-1010 pubmed
    ..To expand our knowledge of mitochondrial genome maintenance, we have studied the localization of the BRCA1 protein, known to be involved in nuclear repair pathways...
  45. Janatova M, Zikan M, Dundr P, Matous B, Pohlreich P. Novel somatic mutations in the BRCA1 gene in sporadic breast tumors. Hum Mutat. 2005;25:319 pubmed
    Germline mutations in two major susceptibility genes BRCA1 and BRCA2 contribute to the majority of inherited breast and ovarian cancers. Besides the germline mutation, tumor progression depends on the loss of a wild-type allele...
  46. Isern A, Loman N, Malina J, Olsson H, Ringberg A. Histopathological findings and follow-up after prophylactic mastectomy and immediate breast reconstruction in 100 women from families with hereditary breast cancer. Eur J Surg Oncol. 2008;34:1148-54 pubmed publisher
    ..Fifty of the 100 women had no previous breast cancer. Fifty were BRCA1 or BRCA2 mutation carriers...
  47. Gonzalez M, Li X, Toy K, DuPrie M, Ventura A, Banerjee M, et al. Downregulation of EZH2 decreases growth of estrogen receptor-negative invasive breast carcinoma and requires BRCA1. Oncogene. 2009;28:843-53 pubmed publisher
    ..EZH2 knockdown upregulated BRCA1 protein...
  48. Grotsky D, Gonzalez Suarez I, Novell A, Neumann M, Yaddanapudi S, Croke M, et al. BRCA1 loss activates cathepsin L-mediated degradation of 53BP1 in breast cancer cells. J Cell Biol. 2013;200:187-202 pubmed publisher
    Loss of 53BP1 rescues BRCA1 deficiency and is associated with BRCA1-deficient and triple-negative breast cancers (TNBC) and with resistance to genotoxic drugs...
  49. Narod S, Sun P, Ghadirian P, Lynch H, Isaacs C, Garber J, et al. Tubal ligation and risk of ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet. 2001;357:1467-70 pubmed
    ..of tubal ligation in reducing the risk of ovarian cancer in women who carry predisposing mutations in the BRCA1 or BRCA2 genes...
  50. Hirsh Yechezkel G, Chetrit A, Lubin F, Friedman E, Peretz T, Gershoni R, et al. Population attributes affecting the prevalence of BRCA mutation carriers in epithelial ovarian cancer cases in israel. Gynecol Oncol. 2003;89:494-8 pubmed
    The objective was to evaluate the prevalence of BRCA1/2 mutations in selected categories of ovarian cancer patients in Israel...
  51. Wang B, Elledge S. Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage. Proc Natl Acad Sci U S A. 2007;104:20759-63 pubmed
    The Brca1 A complex contains Brca1/Bard1, Abraxas, Rap80, and Brcc36; however, with the exception of the Brca1-Abraxas interaction, how the A complex is assembled is not known...
  52. Ratajska M, Brozek I, Senkus Konefka E, Jassem J, Stepnowska M, Palomba G, et al. BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland. Oncol Rep. 2008;19:263-8 pubmed
    Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing...
  53. Sharifah N, Nurismah M, Lee H, Aisyah A, Clarence Ko C, Naqiyah I, et al. Identification of novel large genomic rearrangements at the BRCA1 locus in Malaysian women with breast cancer. Cancer Epidemiol. 2010;34:442-7 pubmed publisher
    ..was carried out on 100 patients (60 were high-risk breast cancer patients previously tested negative/positive for BRCA1 and BRCA2 mutations, and 40 were sporadic breast cancer patients), recruited from three major referral centres, ..
  54. Lecarpentier J, Nogues C, Mouret Fourme E, Stoppa Lyonnet D, Lasset C, Caron O, et al. Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO). Breast Cancer Res Treat. 2011;130:927-38 pubmed publisher
    Germline mutations in BRCA1/2 confer a high risk of breast cancer (BC), but the magnitude of this risk varies according to various factors. Although controversial, there are data to support the hypothesis of allelic-risk heterogeneity...
  55. Rigakos G, Razis E. BRCAness: finding the Achilles heel in ovarian cancer. Oncologist. 2012;17:956-62 pubmed publisher
    ..It exhibits great heterogeneity in tumor biology and treatment response. Germline mutations of DNA repair genes BRCA1/2 are the fundamental defects in hereditary ovarian cancer that expresses a distinct phenotype of high response ..
  56. Safra T, Lai W, Borgato L, Nicoletto M, Berman T, Reich E, et al. BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups. Ann Oncol. 2013;24 Suppl 8:viii63-viii68 pubmed publisher
    ..Ninety were BRCA1/2 carriers (71 BRCA1 and 19BRCA2). The most common mutations in AJ and non-AJ origins were 185delAG and 6174delT...
  57. Chen J, Silver D, Walpita D, Cantor S, Gazdar A, Tomlinson G, et al. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol Cell. 1998;2:317-28 pubmed
    b>BRCA1 and BRCA2 account for most cases of familial, early onset breast and/or ovarian cancer and encode products that each interact with hRAD51...
  58. . Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000;83:1301-8 pubmed
    Estimates of the contribution of BRCA1 and BRCA2 to breast cancer incidence in outbred populations have been based on studies that are either small or have selected for cases diagnosed at an early age...
  59. Goode E, Dunning A, Kuschel B, Healey C, Day N, Ponder B, et al. Effect of germ-line genetic variation on breast cancer survival in a population-based study. Cancer Res. 2002;62:3052-7 pubmed
    ..Up to 2430 cases for whom current vital status data were available were screened for BRCA1/2 mutations and genotyped for polymorphisms in 22 DNA repair, hormone metabolism, carcinogen metabolism, and other ..
  60. Schlacher K, Wu H, Jasin M. A distinct replication fork protection pathway connects Fanconi anemia tumor suppressors to RAD51-BRCA1/2. Cancer Cell. 2012;22:106-16 pubmed publisher
    Genes mutated in patients with Fanconi anemia (FA) interact with the DNA repair genes BRCA1 and BRCA2/FANCD1 to suppress tumorigenesis, but the molecular functions ascribed to them cannot fully explain all of their cellular roles...
  61. Ekblad C, Wilkinson H, Schymkowitz J, Rousseau F, Freund S, Itzhaki L. Characterisation of the BRCT domains of the breast cancer susceptibility gene product BRCA1. J Mol Biol. 2002;320:431-42 pubmed
    The breast cancer susceptibility gene product BRCA1 is a tumour suppressor but the biochemical and biological functions that underlie its role in carcinogenesis remain to be determined...
  62. Ruiz Flores P, Sinilnikova O, Badzioch M, Calderón Garcidueñas A, Chopin S, Fabrice O, et al. BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mutat. 2002;20:474-5 pubmed
    The entire coding regions of BRCA1 and BRCA2 were screened for mutations by heteroduplex analysis in 51 Mexican breast cancer patients...
  63. Gronwald J, Tung N, Foulkes W, Offit K, Gershoni R, Daly M, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118:2281-4 pubmed
    Women with a mutation in BRCA1 or BRCA2 face a lifetime risk of breast cancer of approximately 80%, and following the first diagnosis the 10-year risk of contralateral breast cancer is approximately 30%...
  64. Cabuy E, Newton C, Slijepcevic P. BRCA1 knock-down causes telomere dysfunction in mammary epithelial cells. Cytogenet Genome Res. 2008;122:336-42 pubmed publisher
    A breast cancer predisposing gene, BRCA1, is a major suppressor of chromosomal instability and its dysfunction affects multiple pathways involved in DNA damage response...
  65. Kais Z, Barsky S, Mathsyaraja H, Zha A, Ransburgh D, He G, et al. KIAA0101 interacts with BRCA1 and regulates centrosome number. Mol Cancer Res. 2011;9:1091-9 pubmed publisher
    To find genes and proteins that collaborate with BRCA1 or BRCA2 in the pathogenesis of breast cancer, we used an informatics approach and found a candidate BRCA interactor, KIAA0101, to function like BRCA1 in exerting a powerful control ..
  66. Rummel S, Varner E, Shriver C, Ellsworth R. Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. Breast Cancer Res Treat. 2013;137:119-25 pubmed publisher
    ..While >50 % of patients with inherited BRCA1 mutations have TNBC, the prevalence of BRCA1 mutations in patients with TNBC remains unclear...
  67. Bayraktar S, Gutierrez Barrera A, Lin H, Elsayegh N, Tasbas T, Litton J, et al. Outcome of metastatic breast cancer in selected women with or without deleterious BRCA mutations. Clin Exp Metastasis. 2013;30:631-42 pubmed publisher
    ..progression and overall survival (OS) in patients with metastatic breast cancer (MBC) with and without deleterious BRCA1/2 mutations...
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    Testing for mutations in BRCA1 and BRCA2 can provide important information about breast and ovarian cancer risk to a small but identifiable subgroup of women...
  69. Lodder L, Frets P, Trijsburg R, Meijers Heijboer E, Klijn J, Duivenvoorden H, et al. Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet. 2001;98:15-24 pubmed
    Mutation analysis for autosomal dominant hereditary breast/ovarian cancer genes (BRCA1/BRCA2) became an important technique for women at risk of carrying these mutations...
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    In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic counselling purposes, it is important to allow for the fact that other breast cancer susceptibility genes may exist...
  71. Olivier R, van Beurden M, Lubsen M, Rookus M, Mooij T, van de Vijver M, et al. Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up. Br J Cancer. 2004;90:1492-7 pubmed
    ..The medical files of BRCA1 or BRCA2 mutation carriers and members of a hereditary breast/ovarian cancer (HBOC) family, who had undergone ..
  72. Kirchhoff T, Kauff N, Mitra N, Nafa K, Huang H, Palmer C, et al. BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res. 2004;10:2918-21 pubmed
    ..men with prostate cancer were screened for the presence of one of the three common Ashkenazi founder mutations in BRCA1 and BRCA2...
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    ..Conversely, the formation of this transcription complex is abrogated in cells overexpressing p53. ..
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    ..Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we ..
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    b>BRCA1, the breast cancer- and ovarian cancer-specific tumor suppressor, can be a transcriptional repressor or a transcriptional activator, depending on the promoter context...
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    ..a family history of BC, and to evaluate whether ten-year overall survival can be considered a good indicator of BRCA1 gene mutation...
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    b>BRCA1 promoter methylation reportedly plays an important part in the pathogenesis of human breast cancer...
  78. Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell. 1997;88:265-75 pubmed
    b>BRCA1 immunostaining reveals discrete, nuclear foci during S phase of the cell cycle. Human Rad51, a homolog of bacterial RecA, behaves similarly. The two proteins were found to colocalize in vivo and to coimmunoprecipitate...
  79. Willers H, Taghian A, Luo C, Treszezamsky A, Sgroi D, Powell S. Utility of DNA repair protein foci for the detection of putative BRCA1 pathway defects in breast cancer biopsies. Mol Cancer Res. 2009;7:1304-9 pubmed publisher
    ..Foci formation of DNA repair proteins BRCA1, FANCD2, and RAD51 was detected by immunofluorescence microscopy...
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    We investigated the relationship between BRCA1 protein expression by immunohistochemistry (IHC) and clinical outcome following platinum and platinum/taxane chemotherapy in sporadic epithelial ovarian cancer (EOC)...
  81. Gallardo M, Silva A, Rubio L, Alvarez C, Torrealba C, Salinas M, et al. Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat. 2006;95:81-7 pubmed
    Our aim was to analyze the incidence of mutations in BRCA1 and BRCA2 genes in 54 families with breast/ovarian cancer. Families were selected from three Institutions following the standard criteria for hereditary breast/ovarian cancer...
  82. El Tanani M, Campbell F, Crowe P, Erwin P, Harkin D, Pharoah P, et al. BRCA1 suppresses osteopontin-mediated breast cancer. J Biol Chem. 2006;281:26587-601 pubmed
    b>BRCA1 is a well described breast cancer susceptibility gene thought to be involved primarily in DNA repair...
  83. Parija S, Kumar A. A structural bioinformatics approach to explore the interactions of P53 and BRCA1 gene products on ovarian and breast cancer. Int J Bioinform Res Appl. 2011;7:1-14 pubmed
    ..Zinc finger of P53 and Ring finger of BRCA1 are similar domains having mostly binding activity...
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  85. Yazdi P, Wang Y, Zhao S, Patel N, Lee E, Qin J. SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. Genes Dev. 2002;16:571-82 pubmed
    ..SMC1 associates with BRCA1 and is phosphorylated in response to IR in an ATM- and NBS1-dependent manner...