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

Publications587 found, 100 shown here

  1. Nieuwenhuis B, Van Assen Bolt A, Van Waarde Verhagen M, Sijmons R, Van der Hout A, Bauch T, et al. BRCA1 and BRCA2 heterozygosity and repair of X-ray-induced DNA damage. Int J Radiat Biol. 2002;78:285-95 pubmed
    Up to 90% of hereditary breast cancer cases are linked to germ-line mutations in one of the two copies of the BRCA1 or BRCA2 genes...
  2. Stewart G, Wang B, Bignell C, Taylor A, Elledge S. MDC1 is a mediator of the mammalian DNA damage checkpoint. Nature. 2003;421:961-6 pubmed
    ..Here we identify a novel BRCA1 carboxy-terminal (BRCT) and forkhead-associated (FHA) domain-containing protein, MDC1 (mediator of DNA damage ..
  3. Foray N, Marot D, Gabriel A, Randrianarison V, Carr A, Perricaudet M, et al. A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein. EMBO J. 2003;22:2860-71 pubmed
    b>BRCA1 is a central component of the DNA damage response mechanism and defects in BRCA1 confer sensitivity to a broad range of DNA damaging agents...
  4. Engel C, Versmold B, Wappenschmidt B, Simard J, Easton D, Peock S, et al. Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2010;19:2859-68 pubmed publisher
    ..To evaluate whether the CASP8 D302H (CASP10 V410I) polymorphisms modify breast or ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, we analyzed 7,353 (7,227) subjects of white European origin provided by 19 (18) study ..
  5. Pern F, Bogdanova N, Schürmann P, Lin M, Ay A, Langer F, et al. Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. PLoS ONE. 2012;7:e47993 pubmed publisher
    ..investigated a hospital-based series of 40 German patients with TNBC for the presence of germ-line mutations in BRCA1, BRCA2, PALB2, and BRD7 genes...
  6. Jensen R, Thompson M, Jetton T, Szabo C, van der Meer R, Helou B, et al. BRCA1 is secreted and exhibits properties of a granin. Nat Genet. 1996;12:303-8 pubmed
    Germline mutations in BRCA1 are responsible for most cases of inherited breast and ovarian cancer. However, the function of the BRCA1 protein has remained elusive...
  7. Magnard C, Bachelier R, Vincent A, Jaquinod M, Kieffer S, Lenoir G, et al. BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. Oncogene. 2002;21:6729-39 pubmed
    Germ-line alterations in BRCA1 are associated with an increased susceptibility to breast and ovarian cancer. BRCA1 is a 220-kDa protein that contains a tandem of two BRCA1 C-Terminal (BRCT) domains...
  8. Moisan A, Gaudreau L. The BRCA1 COOH-terminal region acts as an RNA polymerase II carboxyl-terminal domain kinase inhibitor that modulates p21WAF1/CIP1 expression. J Biol Chem. 2006;281:21119-30 pubmed
    b>BRCA1 is involved both in positive and negative regulation of gene activity as well as in numerous other processes, such as DNA damage response and repair...
  9. Mirza S, Sharma G, Prasad C, Parshad R, Srivastava A, Gupta S, et al. Promoter hypermethylation of TMS1, BRCA1, ERalpha and PRB in serum and tumor DNA of invasive ductal breast carcinoma patients. Life Sci. 2007;81:280-7 pubmed
    ..To test this hypothesis methylation status of tumor suppressor genes TMS1, BRCA1, ERalpha and PRB was determined in invasive ductal carcinoma of breast and paired serum DNA...
  10. Bartolucci R, Wei J, Sanchez J, Perez Roca L, Chaib I, Puma F, et al. XPG mRNA expression levels modulate prognosis in resected non-small-cell lung cancer in conjunction with BRCA1 and ERCC1 expression. Clin Lung Cancer. 2009;10:47-52 pubmed publisher
    ..Excision repair cross-complementing 1 (ERCC1), Xeroderma pigmentosum group G (XPG), and breast cancer 1 (BRCA1) are involved in DNA damage repair, whereas ribonucleotide reductase M1 (RRM1) is implicated in DNA synthesis...
  11. Tang M, Kwong A, Tam K, Cheung A, Ngan H, Xia W, et al. BRCA1 deficiency induces protective autophagy to mitigate stress and provides a mechanism for BRCA1 haploinsufficiency in tumorigenesis. Cancer Lett. 2014;346:139-47 pubmed publisher
    Stress adaptation has profound impacts on malignant progression and response to treatment. BRCA1 is an important modulator of cellular stress, but our understanding of its mechanisms of action remains incomplete...
  12. Xia Y, Pao G, Chen H, Verma I, Hunter T. Enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein. J Biol Chem. 2003;278:5255-63 pubmed
    The breast and ovarian cancer-specific tumor suppressor RING finger protein BRCA1 has been identified as an E3 ubiquitin (Ub) ligase through in vitro studies, which demonstrated that its RING finger domain can autoubiquitylate and ..
  13. Soegaard M, Kjaer S, Cox M, Wozniak E, Høgdall E, Høgdall C, et al. BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark. Clin Cancer Res. 2008;14:3761-7 pubmed publisher
    To evaluate the prevalence of BRCA1 and BRCA2 mutations and associations with clinical correlates of disease in a population-based series of ovarian cancer cases from Denmark...
  14. Cantor S, Bell D, Ganesan S, Kass E, Drapkin R, Grossman S, et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001;105:149-60 pubmed
    b>BRCA1 interacts in vivo with a novel protein, BACH1, a member of the DEAH helicase family. BACH1 binds directly to the BRCT repeats of BRCA1...
  15. Krum S, Miranda G, Lin C, Lane T. BRCA1 associates with processive RNA polymerase II. J Biol Chem. 2003;278:52012-20 pubmed
    The human BRCA1 tumor suppressor interacts with transcriptional machinery, including RNA polymerase II (RNA pol II). We demonstrated that interaction with RNA pol II is a conserved feature of BRCA1 proteins from several species...
  16. Veronesi A, De Giacomi C, Magri M, Lombardi D, Zanetti M, Scuderi C, et al. Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases. BMC Cancer. 2005;5:70 pubmed
    ..Although BRCA positive patients have more frequently negative prognostic factors, their prognosis appears to be equal to or better than in patients with BRCA-WT. ..
  17. Smith T, Lee M, Szabo C, Jerome N, McEuen M, Taylor M, et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res. 1996;6:1029-49 pubmed
    ..Over 100 distinct disease-associated mutations have been identified in the breast-ovarian cancer susceptibility gene BRCA1. Loss of the wild-type allele in > 90% of tumors from patients with inherited BRCA1 mutations indicates tumor ..
  18. Simons A, Horwitz A, Starita L, Griffin K, Williams R, Glover J, et al. BRCA1 DNA-binding activity is stimulated by BARD1. Cancer Res. 2006;66:2012-8 pubmed
    The breast- and ovarian-specific tumor suppressor BRCA1 has been implicated in numerous cellular processes, including transcription, ubiquitination, and DNA repair...
  19. Shukla V, Coumoul X, Lahusen T, Wang R, Xu X, Vassilopoulos A, et al. BRCA1 affects global DNA methylation through regulation of DNMT1. Cell Res. 2010;20:1201-15 pubmed publisher
    ..this study, we showed that DNMT1, which encodes a methylation maintenance enzyme, is a transcriptional target of BRCA1. BRCA1 binds to the promoter of the DNMT1 gene through a potential OCT1 site and the binding is required for ..
  20. Hashizume R, Fukuda M, Maeda I, Nishikawa H, Oyake D, Yabuki Y, et al. The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem. 2001;276:14537-40 pubmed
    b>BRCA1-BARD1 constitutes a heterodimeric RING finger complex associated through its N-terminal regions...
  21. Chen A, Kleiman F, Manley J, Ouchi T, Pan Z. Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase. J Biol Chem. 2002;277:22085-92 pubmed
    The RING finger of BRCA1 confers ubiquitin ligase activity that is markedly enhanced when complexed with another RING-containing protein, BARD1, and is required for the function of this tumor suppressor protein in protecting genomic ..
  22. Calvo V, Beato M. BRCA1 counteracts progesterone action by ubiquitination leading to progesterone receptor degradation and epigenetic silencing of target promoters. Cancer Res. 2011;71:3422-31 pubmed publisher
    Germ-line mutations in the BRCA1 gene increase the risk of breast cancer in women, but the precise mechanistic basis for this connection remains uncertain...
  23. Deng C, Wang R. Roles of BRCA1 in DNA damage repair: a link between development and cancer. Hum Mol Genet. 2003;12 Spec No 1:R113-23 pubmed
    DNA damage causes devastating problems for developing organisms. Recent studies reveal that BRCA1 plays essential roles in homologous recombinational repair, non-homologous end joining, and nucleotide excision repair...
  24. Hughes D, Ginolhac S, Coupier I, Barjhoux L, Gaborieau V, Bressac de Paillerets B, et al. Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene. Int J Cancer. 2005;117:230-3 pubmed
    Marked variation in phenotypic expression among BRCA1 and BRCA2 mutation carriers may be partly explained by modifier genes that influence mutation penetrance...
  25. Bonadona V, Dussart Moser S, Voirin N, Sinilnikova O, Mignotte H, Mathevet P, et al. Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review. Breast Cancer Res Treat. 2007;101:233-45 pubmed
    The debate concerning poorer survival for patients with breast cancer (BC) carrying a BRCA1 germline mutation is unresolved, and requires additional data from population-based studies...
  26. Quinn J, Carser J, James C, Kennedy R, Harkin D. BRCA1 and implications for response to chemotherapy in ovarian cancer. Gynecol Oncol. 2009;113:134-42 pubmed publisher
    ..Hereditary ovarian cancer is primarily due to germline mutations in the BRCA1 tumour suppressor gene...
  27. Sanz D, Acedo A, Infante M, Duran M, Perez Cabornero L, Esteban Cardeñosa E, et al. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. Clin Cancer Res. 2010;16:1957-67 pubmed publisher
    Most BRCA1/2 mutations are of unknown clinical relevance. An increasing amount of evidence indicates that there can be deleterious effects through the disruption of the splicing process...
  28. Narod S, Feunteun J, Lynch H, Watson P, Conway T, Lynch J, et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet. 1991;338:82-3 pubmed
    ..72. These findings suggest that the chromosomal region 17q12-q23, previously shown to contain a gene for early-onset breast cancer, is also associated with a proportion of hereditary ovarian cancers. ..
  29. Xu X, Lee J, Stern D. Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. J Biol Chem. 2004;279:34091-4 pubmed
    ..MCPH1, like NFBD1/MDC1, 53BP1, and BRCA1, encodes a protein with twin carboxyl-terminal BRCT domains (PTCB)...
  30. Nakai Murakami C, Shimura M, Kinomoto M, Takizawa Y, Tokunaga K, Taguchi T, et al. HIV-1 Vpr induces ATM-dependent cellular signal with enhanced homologous recombination. Oncogene. 2007;26:477-86 pubmed
    ..Strikingly, Vpr was found to stimulate the focus formation of Rad51 and BRCA1, which are involved in repair of DNA double-strand breaks (DSBs) by homologous recombination (HR), and biochemical ..
  31. Tan D, Rothermundt C, Thomas K, Bancroft E, Eeles R, Shanley S, et al. "BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol. 2008;26:5530-6 pubmed publisher
    We evaluated the clinical impact of germ-line BRCA1/2 mutations in patients with epithelial ovarian cancer (EOC) on responses to first and subsequent lines of chemotherapy, treatment-free interval (TFI) between each line of therapy, and ..
  32. Antoniou A, Sinilnikova O, Simard J, Leone M, Dumont M, Neuhausen S, et al. RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet. 2007;81:1186-200 pubmed
    RAD51 is an important component of double-stranded DNA-repair mechanisms that interacts with both BRCA1 and BRCA2...
  33. Vidal Millan S, Taja Chayeb L, Gutiérrez Hernández O, Ramírez Ugalde M, Robles Vidal C, Bargallo Rocha E, et al. Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients. Eur J Gynaecol Oncol. 2009;30:527-30 pubmed
    Germline mutations in the BRCA1 and BRCA2 genes predispose to breast and ovarian cancer. A variable incidence of mutations has been reported for these genes...
  34. Jacot W, Thezenas S, Senal R, Viglianti C, Laberenne A, Lopez Crapez E, et al. BRCA1 promoter hypermethylation, 53BP1 protein expression and PARP-1 activity as biomarkers of DNA repair deficit in breast cancer. BMC Cancer. 2013;13:523 pubmed publisher
    Poly(adenosine diphosphate-ribose) polymerase 1 (PARP-1) and the balance between BRCA1 and 53BP1 play a key role in the DNA repair and cell stress response...
  35. Kadouri L, Kote Jarai Z, Easton D, Hubert A, Hamoudi R, Glaser B, et al. Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers. Int J Cancer. 2004;108:399-403 pubmed
    Variation in the penetrance estimates for BRCA1 and BRCA2 mutation carriers suggests that other factors may modify cancer risk from specific mutations. One possible mechanism is an epigenetic effect of polymorphisms in other genes...
  36. Antoniou A, Pharoah P, Narod S, Risch H, Eyfjord J, Hopper J, et al. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet. 2005;42:602-3 pubmed
    ..The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-..
  37. Thompson D, Easton D. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002;94:1358-65 pubmed
    Germline BRCA1 mutations confer a substantial lifetime risk of breast and ovarian cancer, but whether cancer at other sites is increased is less clear...
  38. Lee A, Ho G, Oh P, Balram C, Ooi L, Lim D, et al. Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore. Hum Mutat. 2003;22:178 pubmed
    The mutation spectrum of the BRCA1 gene among ethnic groups from Asia has not been well studied...
  39. Russo A, Calò V, Agnese V, Bruno L, Corsale S, Augello C, et al. BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. Breast Cancer Res Treat. 2007;105:267-76 pubmed
    To evaluate the contribution of germline BRCA1 mutations in the incidence of hereditary and familial Breast Cancer (BC) and/or Ovarian Cancer (OC) in patients from Southern Italy (in the region of Sicily) and to identify a possible ..
  40. Purnomosari D, Pals G, Wahyono A, Aryandono T, Manuaba T, Haryono S, et al. BRCA1 and BRCA2 germline mutation analysis in the Indonesian population. Breast Cancer Res Treat. 2007;106:297-304 pubmed
    Specific mutations in BRCA1 and BRCA2 genes have been identified in specific populations and ethnic groups. However, little is known about the contribution of BRCA1 and BRCA2 mutations to breast cancers in the Indonesian population...
  41. Coleman K, Greenberg R. The BRCA1-RAP80 complex regulates DNA repair mechanism utilization by restricting end resection. J Biol Chem. 2011;286:13669-80 pubmed publisher
    The tumor suppressor protein BRCA1 is a constituent of several different protein complexes and is required for homology-directed repair (HDR) of DNA double strand breaks (DSBs)...
  42. Whiley P, Guidugli L, Walker L, Healey S, Thompson B, Lakhani S, et al. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Hum Mutat. 2011;32:678-87 pubmed publisher
    Clinical management of breast cancer families is complicated by identification of BRCA1 and BRCA2 sequence alterations of unknown significance...
  43. Joo W, Jeffrey P, Cantor S, Finnin M, Livingston D, Pavletich N. Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure. Genes Dev. 2002;16:583-93 pubmed
    b>Brca1 C-terminal (BRCT) domains are a common protein-protein interaction motif in proteins involved in the DNA damage response and DNA repair...
  44. Spurdle A, Lakhani S, Healey S, Parry S, Da Silva L, Brinkworth R, et al. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. J Clin Oncol. 2008;26:1657-63 pubmed publisher
    Rare missense substitutions and in-frame deletions of BRCA1 and BRCA2 genes present a challenge for genetic counseling of individuals carrying such unclassified variants...
  45. Chen W, Pan K, Ouyang T, Li J, Wang T, Fan Z, et al. BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. Breast Cancer Res Treat. 2009;117:55-60 pubmed publisher
    The data related to BRCA1 germline mutation in Chinese women with familial breast cancer is increasing...
  46. Anderson S, Schlegel B, Nakajima T, Wolpin E, Parvin J. BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A. Nat Genet. 1998;19:254-6 pubmed
    The breast cancer specific tumour suppressor protein, BRCA1 (refs 1,2), activates transcription when linked with a DNA-binding domain and is a component of the RNA polymerase II (Pol II) holoenzyme...
  47. Cybulski C, Gorski B, Gronwald J, Huzarski T, Byrski T, Debniak T, et al. BRCA1 mutations and prostate cancer in Poland. Eur J Cancer Prev. 2008;17:62-6 pubmed
    Evidence to date that BRCA1 mutation carriers are at an increased risk of prostate cancer is mixed - both positive and negative studies have been published...
  48. Vogel K, Atchley D, Erlichman J, Broglio K, Ready K, Valero V, et al. BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. J Clin Oncol. 2007;25:4635-41 pubmed
    The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using mutation frequencies of white and Ashkenazi Jewish populations, and may not be applicable to other populations...
  49. Castilla L, Couch F, Erdos M, Hoskins K, Calzone K, Garber J, et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet. 1994;8:387-91 pubmed
    ..probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA...
  50. Aprelikova O, Fang B, Meissner E, Cotter S, Campbell M, Kuthiala A, et al. BRCA1-associated growth arrest is RB-dependent. Proc Natl Acad Sci U S A. 1999;96:11866-71 pubmed
    b>BRCA1 is a susceptibility gene for breast and ovarian cancer with growth-inhibitory activity for which the mechanism of action remains unclear. When introduced into cells, BRCA1 inhibits growth of some but not all cell lines...
  51. Rosen E, Fan S, Isaacs C. BRCA1 in hormonal carcinogenesis: basic and clinical research. Endocr Relat Cancer. 2005;12:533-48 pubmed
    The breast and ovarian cancer susceptibility gene-1 (BRCA1) located on chromosome 17q21 encodes a tumor suppressor gene that functions, in part, as a caretaker gene in preserving chromosomal stability...
  52. Swisher E, Sakai W, Karlan B, Wurz K, Urban N, Taniguchi T. Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res. 2008;68:2581-6 pubmed publisher
    Although ovarian carcinomas with mutated BRCA1 or BRCA2 are sensitive to platinum compounds, such carcinomas eventually develop platinum resistance...
  53. Baudi F, Quaresima B, Grandinetti C, Cuda G, Faniello C, Tassone P, et al. Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer. Hum Mutat. 2001;18:163-4 pubmed
    ..Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations in the BRCA1 gene are by far the most recurrent...
  54. Rosen E, Fan S, Pestell R, Goldberg I. BRCA1 in hormone-responsive cancers. Trends Endocrinol Metab. 2003;14:378-85 pubmed
    Mutations of the breast cancer susceptibility gene BRCA1 are linked to hereditary early onset breast and breast-ovarian cancer syndromes...
  55. Altiok S, Batt D, Altiok N, Papautsky A, Downward J, Roberts T, et al. Heregulin induces phosphorylation of BRCA1 through phosphatidylinositol 3-Kinase/AKT in breast cancer cells. J Biol Chem. 1999;274:32274-8 pubmed
    The breast cancer susceptibility gene BRCA1 encodes a nuclear phosphoprotein that acts as a tumor suppressor...
  56. Wang B, Matsuoka S, Carpenter P, Elledge S. 53BP1, a mediator of the DNA damage checkpoint. Science. 2002;298:1435-8 pubmed
    ..53BP1 played a partially redundant role in phosphorylation of the downstream checkpoint effector proteins Brca1 and Chk2 but was required for the formation of Brca1 foci in a hierarchical branched pathway for the recruitment ..
  57. Krasteva M, Bozhanov S, Antov G, Gospodinova Z, Angelov S. Breast cancer patients with hypermethylation in the promoter of BRCA1 gene exhibit favorable clinical status. Neoplasma. 2012;59:85-91 pubmed
    ..Several studies were dedicated to explore the frequency and clinical significance of BRCA1 hypermethylation in sporadic breast cancer to identify a specific molecular and clinico-pathological phenotype...
  58. Brazda V, Jagelska E, Liao J, Arrowsmith C. The central region of BRCA1 binds preferentially to supercoiled DNA. J Biomol Struct Dyn. 2009;27:97-104 pubmed
    b>BRCA1 is a multifunctional tumor suppressor protein with implications in regulating processes such as cell cycle, transcription, DNA repair, and chromatin remodeling...
  59. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet. 1994;8:392-8 pubmed
    Women who carry mutations in the BRCA1 gene on chromosome 17q have an 85% lifetime risk of breast cancer, and a 60% risk of ovarian cancer...
  60. Scully R, Anderson S, Chao D, Wei W, Ye L, Young R, et al. BRCA1 is a component of the RNA polymerase II holoenzyme. Proc Natl Acad Sci U S A. 1997;94:5605-10 pubmed
    The familial breast-ovarian tumor suppressor gene product BRCA1 was found to be a component of the RNA polymerase II holoenzyme by several criteria. BRCA1 was found to copurify with the holoenzyme over multiple chromatographic steps...
  61. Tutt A, Ashworth A. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med. 2002;8:571-6 pubmed
    The proteins encoded by the breast-cancer-susceptibility genes, BRCA1 and BRCA2, have recently been implicated in DNA-repair processes, thereby improving our understanding of how the loss of these genes contributes to cancer initiation ..
  62. Savage K, Matchett K, Barros E, Cooper K, Irwin G, Gorski J, et al. BRCA1 deficiency exacerbates estrogen-induced DNA damage and genomic instability. Cancer Res. 2014;74:2773-2784 pubmed publisher
    Germline mutations in BRCA1 predispose carriers to a high incidence of breast and ovarian cancers. BRCA1 functions to maintain genomic stability through critical roles in DNA repair, cell-cycle arrest, and transcriptional control...
  63. Brzovic P, Rajagopal P, Hoyt D, King M, Klevit R. Structure of a BRCA1-BARD1 heterodimeric RING-RING complex. Nat Struct Biol. 2001;8:833-7 pubmed
    The RING domain of the breast and ovarian cancer tumor suppressor BRCA1 interacts with multiple cognate proteins, including the RING protein BARD1...
  64. Kurian A, Sigal B, Plevritis S. Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol. 2010;28:222-31 pubmed publisher
    Women with BRCA1/2 mutations inherit high risks of breast and ovarian cancer; options to reduce cancer mortality include prophylactic surgery or breast screening, but their efficacy has never been empirically compared...
  65. Tonic I, Yu W, Park Y, Chen C, Hay N. Akt activation emulates Chk1 inhibition and Bcl2 overexpression and abrogates G2 cell cycle checkpoint by inhibiting BRCA1 foci. J Biol Chem. 2010;285:23790-8 pubmed publisher
    ..Here we report a new mechanism by which Akt affects G2 cell cycle arrest. We show that Akt inhibits BRCA1 function that induces G2 cell cycle arrest...
  66. Paull T, Cortez D, Bowers B, Elledge S, Gellert M. Direct DNA binding by Brca1. Proc Natl Acad Sci U S A. 2001;98:6086-91 pubmed
    The tumor suppressor Brca1 plays an important role in protecting mammalian cells against genomic instability, but little is known about its modes of action...
  67. Saxena S, Chakraborty A, Kaushal M, Kotwal S, Bhatanager D, Mohil R, et al. Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet. 2006;7:75 pubmed
    A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Indian women...
  68. Jacobi C, van Ierland Y, van Asperen C, Hallensleben E, Devilee P, Jan Fleuren G, et al. Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort. Genet Med. 2007;9:173-9 pubmed
    ..of patients with ovarian cancer and to identify the predictive value of these characteristics for (non)carrying a BRCA1 or BRCA2 mutation...