BRCA2

Summary

Gene Symbol: BRCA2
Description: BRCA2, DNA repair associated
Alias: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11, breast cancer type 2 susceptibility protein, BRCA1/BRCA2-containing complex, subunit 2, Fanconi anemia group D1 protein, breast and ovarian cancer susceptibility gene, early onset, breast and ovarian cancer susceptibility protein 2, breast cancer 2 tumor suppressor, breast cancer 2, early onset, mutant BRCA2, truncated breast cancer 2
Species: human
Products:     BRCA2

Top Publications

  1. Ayoub N, Rajendra E, Su X, Jeyasekharan A, Mahen R, Venkitaraman A. The carboxyl terminus of Brca2 links the disassembly of Rad51 complexes to mitotic entry. Curr Biol. 2009;19:1075-85 pubmed publisher
    ..Rad51 assembly is regulated by the breast cancer suppressor Brca2, via its evolutionarily conserved BRC repeats, and a distinct carboxy (C)-terminal motif whose biological function ..
  2. 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
    ..regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis...
  3. Thorslund T, McIlwraith M, Compton S, Lekomtsev S, Petronczki M, Griffith J, et al. The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA. Nat Struct Mol Biol. 2010;17:1263-5 pubmed publisher
    Individuals with BRCA2 mutations are predisposed to breast cancers owing to genome instability. To determine the functions of BRCA2, the human protein was purified...
  4. Thorslund T, Esashi F, West S. Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1. EMBO J. 2007;26:2915-22 pubmed
    Germline mutations in BRCA2 predispose to hereditary breast cancers...
  5. Kwong A, Ng E, Wong C, Law F, Au T, Wong H, et al. Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. PLoS ONE. 2012;7:e43994 pubmed publisher
    ..variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of BRCA1 and BRCA2 mutations in different populations. Knowledge of BRCA mutations in Chinese populations is still largely unknown...
  6. Bhatia V, Barroso S, García Rubio M, Tumini E, Herrera Moyano E, Aguilera A. BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2. Nature. 2014;511:362-5 pubmed publisher
    ..We show that the BRCA2 repair factor, which binds to DSS1, also associates with PCID2 in the cell...
  7. Finch A, Lubinski J, Møller P, Singer C, Karlan B, Senter L, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32:1547-53 pubmed publisher
    ..were to estimate the reduction in risk of ovarian, fallopian tube, or peritoneal cancer in women with a BRCA1 or BRCA2 mutation after oophorectomy, by age of oophorectomy; to estimate the impact of prophylactic oophorectomy on all-..
  8. Cho J, Cho D, Ahn S, Choi S, Shin I, Park H, et al. Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea. Fam Cancer. 2014;13:205-11 pubmed publisher
    We screened large genomic rearrangements of the BRCA1 and BRCA2 genes in Korean, familial breast cancer patients...
  9. 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. ..

More Information

Publications86

  1. 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
    ..a hospital-based series of 40 German patients with TNBC for the presence of germ-line mutations in BRCA1, BRCA2, PALB2, and BRD7 genes...
  2. 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. ..
  3. Venkitaraman A. Cancer suppression by the chromosome custodians, BRCA1 and BRCA2. Science. 2014;343:1470-5 pubmed publisher
    Germline mutations in BRCA1 and BRCA2 predispose to common human malignancies, most notably tumors of the breast and ovaries...
  4. Chun J, Buechelmaier E, Powell S. Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway. Mol Cell Biol. 2013;33:387-95 pubmed publisher
    ..In response to DNA damage, the BCDX2 complex acts downstream of BRCA2 recruitment but upstream of Rad51 recruitment...
  5. Willems Jones A, Kavanagh L, Clouston D, Bolton D, Fox S, Thorne H. High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer. BJU Int. 2012;110:E1181-6 pubmed publisher
    ..The risk of developing aggressive prostate cancer is increased for men carrying a pathogenic germline mutation in BRCA2. An earlier study by the Kathleen Cuningham Consortium for Research into Familial Breast Cancer showed that BRCA2 ..
  6. Antoniou A, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497-506 pubmed publisher
    ..Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifetime risk of breast cancer that is conferred by such mutations remains unknown...
  7. Juwle A, Saranath D. BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity. Med Oncol. 2012;29:3272-81 pubmed publisher
    ..We observed BRCA1/BRCA2 mutations in 52 % early-onset breast cancer patients and in 57 % relatives...
  8. 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...
  9. 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
  10. Ibrahim Y, García García C, Serra V, He L, Torres Lockhart K, Prat A, et al. PI3K inhibition impairs BRCA1/2 expression and sensitizes BRCA-proficient triple-negative breast cancer to PARP inhibition. Cancer Discov. 2012;2:1036-47 pubmed publisher
    ..On the basis of our findings, a clinical trial with BKM120 and olaparib is being initiated in patients with TNBCs. ..
  11. Carraro D, Koike Folgueira M, Garcia Lisbôa B, Ribeiro Olivieri E, Vitorino Krepischi A, de Carvalho A, et al. Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. PLoS ONE. 2013;8:e57581 pubmed publisher
    Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues in young breast cancer patients worldwide...
  12. Kim J, Oktay K. Baseline E(2) levels are higher in BRCA2 mutation carriers: a potential target for prevention?. Cancer Causes Control. 2013;24:421-6 pubmed publisher
    ..Basal serum E(2) level was significantly higher in women with BRCA2 mutations compared to women with BRCA1 mutations or without BRCA mutations (71.7 ± 41.6 vs. 45.5 ± 20.7 vs...
  13. McLaughlin J, Rosen B, Moody J, Pal T, Fan I, Shaw P, et al. Long-term ovarian cancer survival associated with mutation in BRCA1 or BRCA2. J Natl Cancer Inst. 2013;105:141-8 pubmed publisher
    Studies have suggested that the 5-year survival of women with ovarian cancer and a BRCA1 or BRCA2 mutation is better than expected...
  14. 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...
  15. Blay P, Santamaria I, Pitiot A, Luque M, Alvarado M, Lastra A, et al. Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). BMC Cancer. 2013;13:243 pubmed publisher
    The prevalence of BRCA1 and BRCA2 mutations in Spain is heterogeneous and varies according to geographical origin of studied families...
  16. Mondal G, Rowley M, Guidugli L, Wu J, Pankratz V, Couch F. BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis. Dev Cell. 2012;23:137-52 pubmed publisher
    Disruption of the BRCA2 tumor suppressor is associated with structural and numerical chromosomal defects...
  17. Jeyasekharan A, Liu Y, Hattori H, Pisupati V, Jonsdottir A, Rajendra E, et al. A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization. Nat Struct Mol Biol. 2013;20:1191-8 pubmed publisher
    ..In turn, cytoplasmic mislocalization of mutant BRCA2 inhibits the nuclear retention of RAD51 by exposing a similar NES in RAD51 that is usually obscured by the ..
  18. Larsen M, Kruse T, Tan Q, Lænkholm A, Bak M, Lykkesfeldt A, et al. Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling. PLoS ONE. 2013;8:e64268 pubmed publisher
    Pathogenic germline mutations in BRCA1 or BRCA2 are detected in less than one third of families with a strong history of breast cancer. It is therefore expected that mutations still remain undetected by currently used screening methods...
  19. Gaudet M, Kuchenbaecker K, Vijai J, Klein R, Kirchhoff T, McGuffog L, et al. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 2013;9:e1003173 pubmed publisher
    Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS)...
  20. Yang G, Mercado Uribe I, Multani A, Sen S, Shih I, Wong K, et al. RAS promotes tumorigenesis through genomic instability induced by imbalanced expression of Aurora-A and BRCA2 in midbody during cytokinesis. Int J Cancer. 2013;133:275-85 pubmed publisher
    ..To better understand how RAS functions, we measured the activity of the functionally related genes Aurora-A and BRCA2 in ovarian cancer cell lines and tumor samples containing RAS mutations...
  21. 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...
  22. Akbari M, Donenberg T, Lunn J, Curling D, Turnquest T, Krill Jackson E, et al. The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. Clin Genet. 2014;85:64-7 pubmed publisher
    We sought to identify the full range of founder mutations in BRCA1 and BRCA2 in the Bahamas and to estimate the proportion of all BRCA1 and BRCA2 mutations that are accounted for by founder mutations...
  23. Widschwendter M, Rosenthal A, Philpott S, Rizzuto I, Fraser L, HAYWARD J, et al. The sex hormone system in carriers of BRCA1/2 mutations: a case-control study. Lancet Oncol. 2013;14:1226-32 pubmed publisher
    Penetrance for breast cancer, ovarian cancer, or both in carriers of BRCA1/BRCA2 mutations is disproportionately high. Sex hormone dysregulation and altered end-organ hormone sensitivity might explain this organ-specific penetrance...
  24. Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, et al. Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. Ann Surg Oncol. 2013;20:3254-8 pubmed publisher
    ..8 %) had confirmed BRCA1 (n = 106) or BRCA2 (n = 32) mutations. BRCA mutation prevalence differed by ethnicity and race: AA (20.4 %), AJ (50 %), Asian (28...
  25. De Brakeleer S, De Greve J, Lissens W, Teugels E. Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example. Hum Mutat. 2013;34:785-91 pubmed publisher
    ..1739_1740insAlu in BRCA1 and c.156_157insAlu in BRCA2.
  26. Dagan E, Cohen Y, Mory A, Adir V, Borochowitz Z, Raanani H, et al. BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study. Eur J Hum Genet. 2014;22:277-9 pubmed publisher
    ..The notion that BRCA1/2 mutations are embryo-lethal unless rescued by the low FMR1 subgenotypes is hereby refuted. ..
  27. Pal T, Bonner D, Kim J, Monteiro A, Kessler L, Royer R, et al. Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics. Breast J. 2013;19:189-92 pubmed publisher
    ..Young Black women are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations...
  28. 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
    ..The contribution of unclassified BRCA variants to cancer etiology remains undetermined. ..
  29. Feliubadaló L, Lopez Doriga A, Castellsagué E, del Valle J, Menendez M, Tornero E, et al. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet. 2013;21:864-70 pubmed publisher
    ..diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA1 and BRCA2. A NGS-based workflow was designed using BRCA MASTR kit amplicon libraries followed by GS Junior pyrosequencing...
  30. Sandhu S, Schelman W, Wilding G, Moreno V, Baird R, Miranda S, et al. The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial. Lancet Oncol. 2013;14:882-92 pubmed publisher
    ..We investigated the safety, tolerability, maximum tolerated dose, pharmacokinetic and pharmacodynamic profiles, and preliminary antitumour activity of niraparib...
  31. Garcia Closas M, Couch F, Lindstrom S, Michailidou K, Schmidt M, Brook M, et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet. 2013;45:392-8, 398e1-2 pubmed publisher
    ..05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers. ..
  32. Colombo M, De Vecchi G, Caleca L, Foglia C, Ripamonti C, Ficarazzi F, et al. Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. PLoS ONE. 2013;8:e57173 pubmed publisher
    ..In this study, 24 UVs located at BRCA1 and BRCA2 splice sites were characterized by transcripts analysis...
  33. Deb S, Jene N, Fox S. Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas. BMC Cancer. 2012;12:510 pubmed publisher
    ..A significant proportion occurs in families with a history of breast cancer and in particular those carrying BRCA2 mutations...
  34. Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Revillion F, Caputo S, et al. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. J Med Genet. 2012;49:609-17 pubmed publisher
    ..predictions of these elements are still inaccurate and only few such elements have been functionally mapped in BRCA2. We studied the effect on splicing of eight exon 7 VUS, selected from the French UMD-BRCA2 mutation database...
  35. Novakovic S, Milatovic M, Cerkovnik P, Stegel V, Krajc M, Hocevar M, et al. Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. Int J Oncol. 2012;41:1619-27 pubmed publisher
    ..According to the literature, inherited mutations in the BRCA1 and BRCA2 tumour-suppressor genes, account for the majority of hereditary breast and ovarian cancer cases...
  36. Kim H, Cho D, Choi D, Choi S, Shin I, Park W, et al. Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. Breast Cancer Res Treat. 2012;134:1315-26 pubmed publisher
    ..420 (150 distinct) pathogenic mutations were identified, 211 (73 distinct) in BRCA1 and 209 (77 distinct) in BRCA2. The majority (134 of 150) of the distinct mutations resulted in premature termination codon of the BRCA1/2 ..
  37. Sokolenko A, Rozanov M, Mitiushkina N, Sherina N, Iyevleva A, Chekmariova E, et al. Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Fam Cancer. 2007;6:281-6 pubmed
    ..0%), BRCA1 4153delA in 3 (1.0%), CHEK2 IVS2+1G>A in 2 (0.7%), and BRCA1 185delAG, BRCA2 6174delT and NBS1 657del5 in 1 (0.3%) patient each. No cases with BRCA1 300T>G (C61G) mutation was identified...
  38. Ying S, Hamdy F, Helleday T. Mre11-dependent degradation of stalled DNA replication forks is prevented by BRCA2 and PARP1. Cancer Res. 2012;72:2814-21 pubmed publisher
    PARP inhibitors are currently being used in clinical trials to treat BRCA1- or BRCA2-defective tumors, based on the synthetic lethal interaction between PARP1 and BRCA1/2-mediated homologous recombination (HR)...
  39. 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...
  40. Shin S, Verma I. BRCA2 cooperates with histone acetyltransferases in androgen receptor-mediated transcription. Proc Natl Acad Sci U S A. 2003;100:7201-6 pubmed
    ..Here, we show that wild-type BRCA2, but not a tumor-specific truncated mutant BRCA2, synergizes with the nuclear receptor coactivator p160 GRIP1 to enhance transcriptional activation by androgen ..
  41. Andrieu N, Goldgar D, Easton D, Rookus M, Brohet R, Antoniou A, et al. Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst. 2006;98:535-44 pubmed
    ..Because mammary gland cells divide and differentiate during pregnancy, reproductive factors may influence breast cancer risk in BRCA1/2 mutation carriers differently than they do in noncarriers...
  42. Simchoni S, Friedman E, Kaufman B, Gershoni Baruch R, Orr Urtreger A, Kedar Barnes I, et al. Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A. 2006;103:3770-4 pubmed
    Inherited mutations in BRCA1 and BRCA2 lead to significantly increased risks of breast and ovarian cancer. We used epidemiologic methods to evaluate the relative risks of breast cancer vs...
  43. Brown E, Holt J. Rad51 overexpression rescues radiation resistance in BRCA2-defective cancer cells. Mol Carcinog. 2009;48:105-9 pubmed publisher
    Breast cancers with BRCA2 mutations exhibit DNA repair defects and are particularly sensitive to radiation...
  44. Arnes J, Brunet J, Stefansson I, Begin L, Wong N, Chappuis P, et al. Placental cadherin and the basal epithelial phenotype of BRCA1-related breast cancer. Clin Cancer Res. 2005;11:4003-11 pubmed
    ..and 261 were included in the final statistical analyses, including 27 germ line BRCA1 mutation carriers and 8 BRCA2 mutation carriers. Descriptive analyses were done followed by survival analyses and a Poisson regression analysis...
  45. Cox D, Hankinson S, Hunter D. No association between BRCA2 N372H and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2005;14:1353-4 pubmed
  46. Holloman W. Unraveling the mechanism of BRCA2 in homologous recombination. Nat Struct Mol Biol. 2011;18:748-54 pubmed publisher
    b>BRCA2 is the product of a breast cancer susceptibility gene in humans and the founding member of an emerging family of proteins present throughout the eukaryotic domain that serve in homologous recombination...
  47. Yassaee V, Zeinali S, Harirchi I, Jarvandi S, Mohagheghi M, Hornby D, et al. Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res. 2002;4:R6 pubmed
    ..So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified within the Iranian ..
  48. Donoho G, Brenneman M, Cui T, Donoviel D, Vogel H, Goodwin E, et al. Deletion of Brca2 exon 27 causes hypersensitivity to DNA crosslinks, chromosomal instability, and reduced life span in mice. Genes Chromosomes Cancer. 2003;36:317-31 pubmed
    The Brca2 tumor-suppressor gene contributes to genomic stability, at least in part by a role in homologous recombinational repair. BRCA2 protein is presumed to function in homologous recombination through interactions with RAD51...
  49. Kwong A, Wong L, Wong H, Law F, Ng E, Tang Y, et al. A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. Breast Cancer Res Treat. 2009;117:683-6 pubmed publisher
  50. Yu D, Sonoda E, Takeda S, Huang C, Pellegrini L, Blundell T, et al. Dynamic control of Rad51 recombinase by self-association and interaction with BRCA2. Mol Cell. 2003;12:1029-41 pubmed
    ..of living cells to demonstrate the dynamic compartmentalization of Rad51 by self-association or by binding to BRCA2. Mutants of Rad51 that fail to oligomerize and/or to bind BRCA2 distinguish three fractions of Rad51 within the ..
  51. 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 high rate of BRCA1 carriers who received chemotherapy for their BC should question the positive impact of this treatment, as suggested by preclinical studies showing increased chemosensitivity of BRCA1-associated tumours. ..
  52. Bodvarsdottir S, Steinarsdottir M, Bjarnason H, Eyfjord J. Dysfunctional telomeres in human BRCA2 mutated breast tumors and cell lines. Mutat Res. 2012;729:90-9 pubmed publisher
    ..study the possible involvement of telomeres in chromosomal instability of breast tumors and cell lines from BRCA2 mutation carriers was examined...
  53. Thirthagiri E, Lee S, Kang P, Lee D, Toh G, Selamat S, et al. Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res. 2008;10:R59 pubmed publisher
    The cost of genetic testing and the limited knowledge about the BRCA1 and BRCA2 genes in different ethnic groups has limited its availability in medium- and low-resource countries, including Malaysia...
  54. Al Mulla F, Bland J, Serratt D, Miller J, Chu C, Taylor G. Age-dependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol. 2009;62:350-6 pubmed publisher
    ..Using a step-wise systematic approach, culminating in the sequencing of all BRCA1 and BRCA2 exons with the addition of multiplex ligation-dependent probe amplification, the relationship between disease ..
  55. Lekomtsev S, Guizetti J, Pozniakovsky A, Gerlich D, Petronczki M. Evidence that the tumor-suppressor protein BRCA2 does not regulate cytokinesis in human cells. J Cell Sci. 2010;123:1395-400 pubmed publisher
    Germline mutations in the tumor-suppressor gene BRCA2 predispose to breast and ovarian cancer. BRCA2 plays a well-established role in maintaining genome stability by regulating homologous recombination...
  56. Haffty B, Choi D, Goyal S, Silber A, Ranieri K, Matloff E, et al. Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol. 2009;20:1653-9 pubmed publisher
    ..The type of DEL differed with AA having more frequent mutations in BRCA2, compared with CA and KO...
  57. Schoenfeld A, Apgar S, Dolios G, Wang R, Aaronson S. BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. Mol Cell Biol. 2004;24:7444-55 pubmed
    Individuals carrying a germ line mutation of the breast cancer susceptibility gene BRCA2 are predisposed to breast, ovarian, and other types of cancer...
  58. Wagner T, Hirtenlehner K, Shen P, Moeslinger R, Muhr D, Fleischmann E, et al. Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum Mol Genet. 1999;8:413-23 pubmed
    The aim of this study was to evaluate the prevalence of simple sequence variation in the BRCA2 gene...
  59. Katagiri T, Kasumi F, Yoshimoto M, Nomizu T, Asaishi K, Abe R, et al. High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. J Hum Genet. 1998;43:42-8 pubmed
    Mutations in either of two recently identified genes, BRCA1 and BRCA2, are thought to be responsible for approximately two-thirds of all cases of autosomal-dominantly inherited breast cancer...
  60. Fackenthal J, Zhang J, Zhang B, Zheng Y, Hagos F, Burrill D, et al. High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. Int J Cancer. 2012;131:1114-23 pubmed publisher
    Inherited mutations in the BRCA1 and BRCA2 genes are the strongest genetic predictors of breast cancer and are the primary causes of familial breast/ovarian cancer syndrome...
  61. Keshavarzi F, Javadi G, Zeinali S. BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. Fam Cancer. 2012;11:57-67 pubmed publisher
    ..accounts for 15% of all breast cancers and germline mutations in breast cancer susceptibility genes, BRCA1 and BRCA2 are responsible for a substantial proportion of high-risk breast and breast/ovarian cancer families (Collaborative ..
  62. 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
    ..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 oophorectomy...
  63. Ochiai K, Yoshikawa Y, Yoshimatsu K, Oonuma T, Tomioka Y, Takeda E, et al. Valine 1532 of human BRC repeat 4 plays an important role in the interaction between BRCA2 and RAD51. FEBS Lett. 2011;585:1771-7 pubmed publisher
    The breast cancer susceptibility protein BRCA2 is essential for recombinational DNA repair. BRCA2 specifically binds to RAD51 via eight BRC repeat motifs and delivers RAD51 to double-stranded DNA breaks...
  64. Brekelmans C, Seynaeve C, Bartels C, Tilanus Linthorst M, Meijers Heijboer E, Crepin C, et al. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol. 2001;19:924-30 pubmed
    ..Overall, screening parameters were comparable to population screening data, with less favorable results in the youngest age group (< 40) and BRCA1/2 carriers. ..
  65. 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
    The BRCA2 N372H nonconservative amino acid substitution polymorphism appears to affect fetal survival in a sex-dependent manner, and the HH genotype was found to be associated with a 1...
  66. Siaud N, Barbera M, Egashira A, Lam I, Christ N, Schlacher K, et al. Plasticity of BRCA2 function in homologous recombination: genetic interactions of the PALB2 and DNA binding domains. PLoS Genet. 2011;7:e1002409 pubmed publisher
    The breast cancer suppressor BRCA2 is essential for the maintenance of genomic integrity in mammalian cells through its role in DNA repair by homologous recombination (HR)...
  67. Ramus S, Harrington P, Pye C, Dicioccio R, Cox M, Garlinghouse Jones K, et al. Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. Hum Mutat. 2007;28:1207-15 pubmed
    ..screened for coding sequence changes and large genomic alterations (rearrangements and deletions) in the BRCA1 and BRCA2 genes. Deleterious BRCA1 mutations were identified in 104 families (37%) and BRCA2 mutations in 25 families (9%)...
  68. Monne M, Piras G, Fancello P, Santona M, Uras A, Landriscina G, et al. Identification of a founder BRCA2 mutation in Sardinian breast cancer families. Fam Cancer. 2007;6:73-9 pubmed
    ..incidence of breast cancer or breast and ovarian cancer by sequencing the full-length coding regions of BRCA1 and BRCA2 genes...
  69. Steinmann D, Bremer M, Rades D, Skawran B, Siebrands C, Karstens J, et al. Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer. Br J Cancer. 2001;85:850-8 pubmed
    Mutations of the BRCA1 or BRCA2 genes have been shown to strongly predispose towards the development of contralateral breast cancer in patients from large multi-case families...
  70. Evans D, Gaarenstroom K, Stirling D, Shenton A, Maehle L, Dørum A, et al. Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. J Med Genet. 2009;46:593-7 pubmed publisher
  71. Honrado E, Osorio A, Palacios J, Benitez J. Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations. Oncogene. 2006;25:5837-45 pubmed
    Tumors arising in BRCA1 and BRCA2 mutation carriers appear to have specific pathological and gene expression profiles, which show a high level of concordance...
  72. Lubinski J, Phelan C, Ghadirian P, Lynch H, Garber J, Weber B, et al. Cancer variation associated with the position of the mutation in the BRCA2 gene. Fam Cancer. 2004;3:1-10 pubmed
    Inherited mutations of the BRCA2 gene give rise to a multi-site cancer phenotype which includes breast cancer (in female and males), ovarian, pancreatic and prostate cancer, ocular and other melanomas, laryngeal, colon and stomach ..
  73. Han S, Lee K, Lee D, Kim B, Lee K, Chung W. Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. Clin Genet. 2006;70:496-501 pubmed
    To investigate the role of BRCA1 and BRCA2 mutations in Korean patients with sporadic breast cancer, 793 breast cancer patients were analyzed by denaturing high performance liquid chromatography and direct sequencing...
  74. Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P. BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families. Dis Markers. 2012;32:343-53 pubmed publisher
    BRCA1 and BRCA2 germline mutations predispose heterozygous carriers to hereditary breast/ovarian cancer...
  75. 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...
  76. Eerola H, Vahteristo P, Sarantaus L, Kyyronen P, Pyrhonen S, Blomqvist C, et al. Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland. Int J Cancer. 2001;93:368-72 pubmed
    ..survival rates of 359 familial breast cancer patients (32 patients from BRCA1-positive families, 43 patients from BRCA2-positive families and 284 patients from BRCA1/2-negative breast cancer families) and compared them with those of ..
  77. Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, et al. Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. Breast Cancer Res Treat. 2012;134:1229-39 pubmed publisher
    Double heterozygosity for disease-causing BRCA1 and BRCA2 mutations is a very rare condition in most populations...