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Gene Review

Brca2  -  breast cancer 2

Mus musculus

Synonyms: AI256696, Breast cancer type 2 susceptibility protein homolog, Fancd1, Fanconi anemia group D1 protein homolog, RAB163
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Disease relevance of Brca2


High impact information on Brca2

  • We show that Brca2 is required for efficient DNA repair, and our results suggest that loss of the p53 checkpoint may be essential for tumour progression triggered by mutations in BRCA2 [5].
  • Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation [5].
  • Unlike other mutations in the Brca2 gene, which are lethal early in embryogenesis when homozygous, some of our homozygous mutant mice survive to adulthood [5].
  • Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2 [6].
  • The phenotypic overlap between Fancd2-null and Brca2/Fancd1 hypomorphic mice is consistent with a common function for both proteins in the same pathway, regulating genomic stability [7].

Biological context of Brca2

  • In Brca1 mutants, the onset of abnormalities is earlier by one day and their phenotypic features and time of death are highly variable, whereas the phenotype of Brca2 null embryos is more uniform, and they all survive for at least 8.5 embryonic days [8].
  • Disruption of the homologous mouse genes Brca1 and Brca2 by targeting showed that they both have indispensable roles during embryogenesis, because nullizygous embryos become developmentally retarded and disorganized, and die early in development [8].
  • Thus, the mutations of Bub1 and BubR1 found in Brca2- mutant mice indeed are responsible for the chromosome instability in Brca2-mutated tumors [1].
  • Impaired phosphorylation and mis-localization of Bub1 and BubR1 are responsible for the defective mitotic checkpoint function in Brca2-mutant thymic lymphomas [1].
  • Brca2 is required for embryonic cellular proliferation in the mouse [9].

Anatomical context of Brca2


Associations of Brca2 with chemical compounds

  • Increased sensitivity to genotoxic agents, particularly ultraviolet light and methylmethanesulfonate, shows that Brca2 function is essential for the ability to survive DNA damage [2].
  • We used mice with a Brca1 mutation on a BALB/cJ inbred background (BALB/cB1+/- mice) or a Brca2 genetic alteration on the 129/SvEv genetic background (129B2+/- mice) to investigate potential gene-environment interactions between defects in these genes and treatment with the highly estrogenic compound diethylstilbestrol (DES) [11].
  • These agents/factors included DMBA, gamma-radiation, Brca2 heterozygosity, and steroid hormones [12].

Regulatory relationships of Brca2


Other interactions of Brca2


Analytical, diagnostic and therapeutic context of Brca2


  1. Impaired phosphorylation and mis-localization of Bub1 and BubR1 are responsible for the defective mitotic checkpoint function in Brca2-mutant thymic lymphomas. Lee, H. Exp. Mol. Med. (2003) [Pubmed]
  2. Involvement of Brca2 in DNA repair. Patel, K.J., Yu, V.P., Lee, H., Corcoran, A., Thistlethwaite, F.C., Evans, M.J., Colledge, W.H., Friedman, L.S., Ponder, B.A., Venkitaraman, A.R. Mol. Cell (1998) [Pubmed]
  3. Brca2 deficiency does not impair mammary epithelium development but promotes mammary adenocarcinoma formation in p53(+/-) mutant mice. Cheung, A.M., Elia, A., Tsao, M.S., Done, S., Wagner, K.U., Hennighausen, L., Hakem, R., Mak, T.W. Cancer Res. (2004) [Pubmed]
  4. Loss of Brca2 and p53 synergistically promotes genomic instability and deregulation of T-cell apoptosis. Cheung, A.M., Hande, M.P., Jalali, F., Tsao, M.S., Skinnider, B., Hirao, A., McPherson, J.P., Karaskova, J., Suzuki, A., Wakeham, A., You-Ten, A., Elia, A., Squire, J., Bristow, R., Hakem, R., Mak, T.W. Cancer Res. (2002) [Pubmed]
  5. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Connor, F., Bertwistle, D., Mee, P.J., Ross, G.M., Swift, S., Grigorieva, E., Tybulewicz, V.L., Ashworth, A. Nat. Genet. (1997) [Pubmed]
  6. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Sharan, S.K., Morimatsu, M., Albrecht, U., Lim, D.S., Regel, E., Dinh, C., Sands, A., Eichele, G., Hasty, P., Bradley, A. Nature (1997) [Pubmed]
  7. Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Houghtaling, S., Timmers, C., Noll, M., Finegold, M.J., Jones, S.N., Meyn, M.S., Grompe, M. Genes Dev. (2003) [Pubmed]
  8. Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Ludwig, T., Chapman, D.L., Papaioannou, V.E., Efstratiadis, A. Genes Dev. (1997) [Pubmed]
  9. Brca2 is required for embryonic cellular proliferation in the mouse. Suzuki, A., de la Pompa, J.L., Hakem, R., Elia, A., Yoshida, R., Mo, R., Nishina, H., Chuang, T., Wakeham, A., Itie, A., Koo, W., Billia, P., Ho, A., Fukumoto, M., Hui, C.C., Mak, T.W. Genes Dev. (1997) [Pubmed]
  10. Brca1 and Brca2 expression patterns in mitotic and meiotic cells of mice. Blackshear, P.E., Goldsworthy, S.M., Foley, J.F., McAllister, K.A., Bennett, L.M., Collins, N.K., Bunch, D.O., Brown, P., Wiseman, R.W., Davis, B.J. Oncogene (1998) [Pubmed]
  11. Mice heterozygous for a Brca1 or Brca2 mutation display distinct mammary gland and ovarian phenotypes in response to diethylstilbestrol. Bennett, L.M., McAllister, K.A., Malphurs, J., Ward, T., Collins, N.K., Seely, J.C., Gowen, L.C., Koller, B.H., Davis, B.J., Wiseman, R.W. Cancer Res. (2000) [Pubmed]
  12. Environmental carcinogens and p53 tumor-suppressor gene interactions in a transgenic mouse model for mammary carcinogenesis. Medina, D., Ullrich, R., Meyn, R., Wiseman, R., Donehower, L. Environ. Mol. Mutagen. (2002) [Pubmed]
  13. Homozygous germ line mutation in exon 27 of murine Brca2 disrupts the Fancd2-Brca2 pathway in the homologous recombination-mediated DNA interstrand cross-links' repair but does not affect meiosis. Atanassov, B.S., Barrett, J.C., Davis, B.J. Genes Chromosomes Cancer (2005) [Pubmed]
  14. Developmental studies of Brca1 and Brca2 knock-out mice. Hakem, R., de la Pompa, J.L., Mak, T.W. Journal of mammary gland biology and neoplasia. (1998) [Pubmed]
  15. Brca1 and Brca2 protein expression patterns in different tissues of murine origin. Bernard-Gallon, D.J., De Latour, M.P., Sylvain, V., Vissac, C., Aunoble, B., Chassagne, J., Bignon, Y.J. Int. J. Oncol. (2001) [Pubmed]
  16. Spontaneous and irradiation-induced tumor susceptibility in BRCA2 germline mutant mice and cooperative effects with a p53 germline mutation. McAllister, K.A., Houle, C.D., Malphurs, J., Ward, T., Collins, N.K., Gersch, W., Wharey, L., Seely, J.C., Betz, L., Bennett, L.M., Wiseman, R.W., Davis, B.J. Toxicologic pathology. (2006) [Pubmed]
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