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. Kentsis A, Gordon R, Borden K. Control of biochemical reactions through supramolecular RING domain self-assembly. Proc Natl Acad Sci U S A. 2002;99:15404-9 pubmed
    ..including promyelocytic leukemia protein, KAP-1TIF1beta, Z, Mel18, breast cancer susceptibility gene product 1 (BRCA1), and BRCA1-associated RING domain (BARD1), self-assemble into supramolecular structures in vitro that resemble ..
  2. 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...
  3. 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...
  4. Aglipay J, Martin S, Tawara H, Lee S, Ouchi T. ATM activation by ionizing radiation requires BRCA1-associated BAAT1. J Biol Chem. 2006;281:9710-8 pubmed
    ..We recently isolated a novel BRCA1-associated protein, BAAT1 (BRCA1-associated protein required for ATM activation-1), by yeast two-hybrid screening ..
  5. 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...
  6. 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 ..
  7. 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...
  8. 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...
  9. 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...

More Information

Publications839 found, 100 shown here

  1. 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 ..
  2. Weberpals J, Tu D, Squire J, Amin M, Islam S, Pelletier L, et al. Breast cancer 1 (BRCA1) protein expression as a prognostic marker in sporadic epithelial ovarian carcinoma: an NCIC CTG OV.16 correlative study. Ann Oncol. 2011;22:2403-10 pubmed publisher
    Breast cancer 1 (BRCA1) protein inactivation in sporadic ovarian carcinoma (OC) is common and low BRCA1 expression is linked with platinum sensitivity. The clinical validation of BRCA1 as a prognostic marker in OC remains unresolved...
  3. 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...
  4. 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...
  5. Carser J, Quinn J, Michie C, O Brien E, McCluggage W, Maxwell P, et al. BRCA1 is both a prognostic and predictive biomarker of response to chemotherapy in sporadic epithelial ovarian cancer. Gynecol Oncol. 2011;123:492-8 pubmed publisher
    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)...
  6. 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...
  7. 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...
  8. Adams S, Marsh E, elMasri W, Halberstadt S, Vandecker S, Sammel M, et al. A high response rate to liposomal doxorubicin is seen among women with BRCA mutations treated for recurrent epithelial ovarian cancer. Gynecol Oncol. 2011;123:486-91 pubmed publisher
    Ten percent of ovarian cancer is attributed to hereditary syndromes, most commonly to mutations in the BRCA1 or BRCA2 genes...
  9. 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...
  10. Lorusso D, Cirillo F, Mancini M, Spatti G, Grijuela B, Ditto A, et al. The different impact of BRCA mutations on the survival of epithelial ovarian cancer patients: a retrospective single-center experience. Oncology. 2013;85:122-7 pubmed publisher
    The objective of this study was to examine whether the oncologic outcomes of BRCA1-associated and BRCA2-associated ovarian cancers correlate differently...
  11. Kwa M, Edwards S, Downey A, Reich E, Wallach R, Curtin J, et al. Ovarian cancer in BRCA mutation carriers: improved outcome after intraperitoneal (IP) cisplatin. Ann Surg Oncol. 2014;21:1468-73 pubmed publisher
    ..e., with deleterious BRCA mutations). Whether such cisplatin dose-intensification from IP relative to (intravenous) IV drug administration leads to superior results in these mutation carriers requires further study. ..
  12. Joosse S, Brandwijk K, Mulder L, Wesseling J, Hannemann J, Nederlof P. Genomic signature of BRCA1 deficiency in sporadic basal-like breast tumors. Genes Chromosomes Cancer. 2011;50:71-81 pubmed publisher
    About 10-20% of all breast carcinomas show a basal-like phenotype, while ? 90% of breast tumors from BRCA1-mutation carriers are of this subtype...
  13. Martin S, Ouchi T. BRCA1 phosphorylation regulates caspase-3 activation in UV-induced apoptosis. Cancer Res. 2005;65:10657-62 pubmed
    ..It has also been shown that the breast cancer tumor suppressor, BRCA1, is phosphorylated on Ser1423 and Ser1524 by the ataxia telangiectasia mutated-related kinase (ATR) after UV ..
  14. Petrucelli N, Daly M, Feldman G. Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genet Med. 2010;12:245-59 pubmed publisher
    Hereditary breast and ovarian cancer due to mutations in the BRCA1 and BRCA2 genes is the most common cause of hereditary forms of both breast and ovarian cancer...
  15. Qin Y, Xu J, Aysola K, Begum N, Reddy V, Chai Y, et al. Ubc9 mediates nuclear localization and growth suppression of BRCA1 and BRCA1a proteins. J Cell Physiol. 2011;226:3355-67 pubmed publisher
    b>BRCA1 gene mutations are responsible for hereditary breast and ovarian cancers. In sporadic breast tumors, BRCA1 dysfunction or aberrant subcellular localization is thought to be common...
  16. Barnes D, Antoniou A. Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers. J Intern Med. 2012;271:331-43 pubmed publisher
    Pathogenic mutations in the tumour suppressor genes BRCA1 and BRCA2 confer increased risks for breast and ovarian cancer and account for approximately 15% of the excess familial risk of breast cancer amongst first-degree relatives of ..
  17. Furuta S, Wang J, Wei S, Jeng Y, Jiang X, Gu B, et al. Removal of BRCA1/CtIP/ZBRK1 repressor complex on ANG1 promoter leads to accelerated mammary tumor growth contributed by prominent vasculature. Cancer Cell. 2006;10:13-24 pubmed
    b>BRCA1 exerts transcriptional repression through interaction with CtIP in the C-terminal BRCT domain and ZBRK1 in the central domain...
  18. Ruffner H, Joazeiro C, Hemmati D, Hunter T, Verma I. Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. Proc Natl Acad Sci U S A. 2001;98:5134-9 pubmed
    b>BRCA1 is a breast and ovarian cancer-specific tumor suppressor that seems to be involved in transcription and DNA repair...
  19. Casey M, Synder C, Bewtra C, Narod S, Watson P, Lynch H. Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. Gynecol Oncol. 2005;97:457-67 pubmed
    ..Now, it is possible to test for specific mutations of the BRCA1 and BRCA2 genes that render members of hereditary breast ovarian cancer (HBOC) syndrome families susceptible to ..
  20. Nikkilä J, Coleman K, Morrissey D, Pylkäs K, Erkko H, Messick T, et al. Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function. Oncogene. 2009;28:1843-52 pubmed publisher
    Germline mutations in two major susceptibility genes, BRCA1 and BRCA2, account for nearly 20% of familial breast cancers...
  21. Feng L, Huang J, Chen J. MERIT40 facilitates BRCA1 localization and DNA damage repair. Genes Dev. 2009;23:719-28 pubmed publisher
    The product of breast cancer susceptibility gene 1, BRCA1, plays pivotal roles in the maintenance of genomic integrity...
  22. Rosell R, Perez Roca L, Sanchez J, Cobo M, Moran T, Chaib I, et al. Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression. PLoS ONE. 2009;4:e5133 pubmed publisher
    ..Experimental evidence suggests that BRCA1 overexpression enhances sensitivity to docetaxel and resistance to cisplatin...
  23. Mallery D, Vandenberg C, Hiom K. Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains. EMBO J. 2002;21:6755-62 pubmed
    Loss of the tumour suppressor BRCA1 results in profound chromosomal instability. The fundamental defect underlying this catastrophic phenotype is not yet known. In vivo, BRCA1 forms a heterodimeric complex with BARD1...
  24. Ottini L, Rizzolo P, Zanna I, Falchetti M, Masala G, Ceccarelli K, et al. BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy. Breast Cancer Res Treat. 2009;116:577-86 pubmed publisher
    ..genetic risk factor for MBC is represented by inherited BRCA2 mutations, whereas the association between MBC and BRCA1 mutations is less clear...
  25. Weghofer A, Tea M, Barad D, Kim A, Singer C, Wagner K, et al. BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?. PLoS ONE. 2012;7:e44753 pubmed publisher
    b>BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve...
  26. Saha T, Rih J, Roy R, Ballal R, Rosen E. Transcriptional regulation of the base excision repair pathway by BRCA1. J Biol Chem. 2010;285:19092-105 pubmed publisher
    Inactivation of the breast cancer susceptibility gene BRCA1 plays a significant role in the development of a subset of breast cancers, although the major tumor suppressor function of this gene remains unclear...
  27. Pruthi S, Gostout B, Lindor N. Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer. Mayo Clin Proc. 2010;85:1111-20 pubmed publisher
    Women with a germline BRCA1 or BRCA2 mutation or a hereditary predisposition for breast and ovarian cancer have substantial risk of breast or ovarian cancer relative to the general US population...
  28. Rhiem K, Todt U, Wappenschmidt B, Klein A, Wardelmann E, Schmutzler R. Sporadic breast carcinomas with somatic BRCA1 gene deletions share genotype/phenotype features with familial breast carcinomas. Anticancer Res. 2010;30:3445-9 pubmed
    ..Although LOH of BRCA1 does not coincide with somatic BRCA1 mutations, reduced BRCA1 protein expression and hypermethylation indicate the ..
  29. Morris J, Solomon E. BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair. Hum Mol Genet. 2004;13:807-17 pubmed
    The N-terminus of the BRCA1 protein bears a RING finger domain that functions as an E3 ubiquitin ligase in vitro where it is able to catalyse the synthesis of monoubiquitin and polyubiquitin targeted proteins...
  30. Thakar A, Parvin J, Zlatanova J. BRCA1/BARD1 E3 ubiquitin ligase can modify histones H2A and H2B in the nucleosome particle. J Biomol Struct Dyn. 2010;27:399-406 pubmed
    b>BRCA1, the protein product of the Breast Cancer Susceptibility Gene (BRCA1) has been implicated in multiple pathways that preserve genome stability, including cell cycle control, DNA repair, transcription, and chromatin remodeling...
  31. Santarosa M, Del Col L, Tonin E, Caragnano A, Viel A, Maestro R. Premature senescence is a major response to DNA cross-linking agents in BRCA1-defective cells: implication for tailored treatments of BRCA1 mutation carriers. Mol Cancer Ther. 2009;8:844-54 pubmed publisher
    b>BRCA1-associated tumors are characterized by an elevated genomic instability and peculiar expression profiles. Nevertheless, tailored treatments for BRCA1 mutation carriers have only been partially investigated up to now...
  32. Maor S, Abramovitch S, Erdos M, Brody L, Werner H. BRCA1 suppresses insulin-like growth factor-I receptor promoter activity: potential interaction between BRCA1 and Sp1. Mol Genet Metab. 2000;69:130-6 pubmed
    ..The receptor is overexpressed by most breast cancers, where it functions as a potent antiapoptotic agent. BRCA1 is a tumor suppressor gene that is mutated in a large fraction of familial breast and ovarian cancers...
  33. Narita T, Yamaguchi Y, Yano K, Sugimoto S, Chanarat S, Wada T, et al. Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex. Mol Cell Biol. 2003;23:1863-73 pubmed
    ..is identical to COBRA1, recently reported to associate with the product of breast cancer susceptibility gene BRCA1. NELF-C and NELF-D are highly related or identical to the protein called TH1, of unknown function...
  34. Johnson N, Fletcher O, Palles C, Rudd M, Webb E, Sellick G, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet. 2007;16:1051-7 pubmed
    Rare inactivating mutations in BRCA1, BRCA2, ATM, TP53 and CHEK2 confer relative risks for breast cancer between about 2 and more than 10, but more common variants in these genes are generally considered of little or no clinical ..
  35. Paull T, Rogakou E, Yamazaki V, Kirchgessner C, Gellert M, Bonner W. A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage. Curr Biol. 2000;10:886-95 pubmed
    ..The product of the tumor suppressor gene BRCA1 also colocalized with gamma-H2AX and was recruited to these sites before Rad50 or Rad51...
  36. van der Groep P, Hoelzel M, Buerger H, Joenje H, de Winter J, van Diest P. Loss of expression of FANCD2 protein in sporadic and hereditary breast cancer. Breast Cancer Res Treat. 2008;107:41-7 pubmed
    ..As FANCD2 interacts with BRCA1, is expressed in proliferating normal breast cells, and FANCD2 knockout mice develop breast tumors, we ..
  37. Dizin E, Gressier C, Magnard C, Ray H, Decimo D, Ohlmann T, et al. BRCA1 interacts with poly(A)-binding protein: implication of BRCA1 in translation regulation. J Biol Chem. 2006;281:24236-46 pubmed
    b>BRCA1 has been implicated in a number of cellular processes, including transcription regulation, DNA damage repair, cell cycle control, and apoptosis...
  38. Esteban Cardeñosa E, Bolufer Gilabert P, Palanca Suela S, Barragán González E, Oltra Soler S, Chirivella González I, et al. [BRCA1 and BRCA2 mutations in families studied in the program of genetic counselling in cancer of the Valencian community (Spain)]. Med Clin (Barc). 2008;130:121-6 pubmed
    The objective of the present study was to investigate the mutational spectrum of BRCA1 and BRCA2 in the Valencian Community, comparing this spectrum with that reported in Spain...
  39. Tung N, Wang Y, Collins L, Kaplan J, Li H, Gelman R, et al. Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic features. Breast Cancer Res. 2010;12:R12 pubmed publisher
    Most breast cancers that occur in women with germline BRCA1 mutations are estrogen receptor-negative (ER-) and also typically lack expression of progesterone receptor (PR) and HER2 overexpression...
  40. Jensen D, Proctor M, Marquis S, Gardner H, Ha S, Chodosh L, et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene. 1998;16:1097-112 pubmed
    ..protein, BAP1, which binds to the RING finger domain of the Breast/Ovarian Cancer Susceptibility Gene product, BRCA1. BAP1 is a nuclear-localized, ubiquitin carboxy-terminal hydrolase, suggesting that deubiquitinating enzymes may ..
  41. Vandenberg C, Gergely F, Ong C, Pace P, Mallery D, Hiom K, et al. BRCA1-independent ubiquitination of FANCD2. Mol Cell. 2003;12:247-54 pubmed
    ..Strong circumstantial evidence points to a requirement for the BRCA1 gene product in this step...
  42. Pageau G, Lawrence J. BRCA1 foci in normal S-phase nuclei are linked to interphase centromeres and replication of pericentric heterochromatin. J Cell Biol. 2006;175:693-701 pubmed
    Breast cancer-associated protein 1 (BRCA1) forms foci at sites of induced DNA damage, but any significance of these normal S-phase foci is unknown...
  43. Gracia Aznárez F, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS ONE. 2013;8:e55681 pubmed publisher
    The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease...
  44. Wei M, Xu J, Dignam J, Nanda R, Sveen L, Fackenthal J, et al. Estrogen receptor alpha, BRCA1, and FANCF promoter methylation occur in distinct subsets of sporadic breast cancers. Breast Cancer Res Treat. 2008;111:113-20 pubmed
    ..Our objectives were to examine the methylation status and expression profiles of ER, correlate the findings with BRCA1 and FANCF methylation and map the critical CpGs for ER expression...
  45. Yarden R, Friedman E, Metsuyanim S, Olender T, Ben Asher E, Papa M. MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent. Breast Cancer Res Treat. 2008;111:497-504 pubmed
    ..In this report, we assessed the role of SNP309 as a modifier of mutant BRCA1/BRCA2 alleles in inherited breast and ovarian cancer cases among Ashkenazi-Jewish (AJ) women...
  46. Holstege H, Joosse S, Van Oostrom C, Nederlof P, de Vries A, Jonkers J. High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer. Cancer Res. 2009;69:3625-33 pubmed publisher
    Approximately half of all hereditary breast cancers are compromised in their DNA repair mechanisms due to loss of BRCA1 or BRCA2 function. Previous research has found a strong correlation between BRCA mutation and TP53 mutation...
  47. de Bock G, Tollenaar R, Papelard H, Cornelisse C, Devilee P, van de Vijver M. Clinical and pathological features of BRCA1 associated carcinomas in a hospital-based sample of Dutch breast cancer patients. Br J Cancer. 2001;85:1347-50 pubmed
    Thus far, studies investigating the differences in tumour characteristics between breast cancer in BRCA1-carriers and other patients, have focused on highly selected groups of patients, potentially limiting the conclusions that can be ..
  48. de la Hoya M, Osorio A, Godino J, Sulleiro S, Tosar A, Perez Segura P, et al. Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer. 2002;97:466-71 pubmed
    ..germline mutations in the entire coding sequence and intron boundaries of the breast cancer susceptibility genes BRCA1 and BRCA2...
  49. Sankaran S, Starita L, Groen A, Ko M, Parvin J. Centrosomal microtubule nucleation activity is inhibited by BRCA1-dependent ubiquitination. Mol Cell Biol. 2005;25:8656-68 pubmed
    In this study we find that the function of BRCA1 inhibits the microtubule nucleation function of centrosomes...
  50. Foulkes W, Stefansson I, Chappuis P, Begin L, Goffin J, Wong N, et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst. 2003;95:1482-5 pubmed
    ..e., ER/erbB-2-negative tumors). The ER/erbB-2- negative phenotype is also found in breast cancers occurring in BRCA1 mutation carriers (i.e., BRCA1-related breast cancers)...
  51. Chen S, Iversen E, Friebel T, Finkelstein D, Weber B, Eisen A, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006;24:863-71 pubmed
    An accurate evaluation of the penetrance of BRCA1 and BRCA2 mutations is essential to the identification and clinical management of families at high risk of breast and ovarian cancer...
  52. Hansen T, Jønson L, Albrechtsen A, Steffensen A, Bergsten E, Myrhøj T, et al. Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk . Breast Cancer Res Treat. 2010;124:259-64 pubmed publisher
    Germ-line mutations in the tumour suppressor proteins BRCA1 and BRCA2 predispose to breast and ovarian cancer. We have recently identified a Greenlandic Inuit BRCA1 nucleotide 234T>G/c.115T>G (p...
  53. 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...
  54. Foster C, Evans D, Eeles R, Eccles D, Ashley S, Brooks L, et al. Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort. Br J Cancer. 2002;86:1209-16 pubmed
    ..Participants are adults unaffected with cancer from families with a known BRCA1/2 mutation. This is the first large multi-centre study of this population in the UK...
  55. 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...
  56. 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 ..
  57. 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- ..
  58. 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...
  59. Maehle L, Apold J, Paulsen T, Hagen B, Løvslett K, Fiane B, et al. High risk for ovarian cancer in a prospective series is restricted to BRCA1/2 mutation carriers. Clin Cancer Res. 2008;14:7569-73 pubmed publisher
    ..Healthy women who were found to be at increased risk judged by family history were followed prospectively. Full BRCA1/2 mutation analysis was conducted on all patients who contracted pelvic cancer...
  60. 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)...
  61. 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. ..
  62. 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...