BRCA2
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BRCA1 and BRCA2 contribute to homologous recombination and DNA repair, to embryonic proliferation, to transcriptional regulation and, for BRCA1, to ubiquitination.
Pathology
germline mutationso of BRCA2 in
- high risks of breast and ovarian cancer
- Fanconi syncrome (Fanconi anemia - FA)
somatic mutations of BRCA2 in
- medulloblastoma
References
Rudkin TM, Foulkes WD. BRCA2: breaks, mistakes and failed separations. Trends Mol Med. 2005 Apr;11(4):145-8. PMID: #15823750#
Gudmundsdottir K, Ashworth A. BRCA2 in meiosis: turning over a new leaf. Trends Cell Biol. 2004 Aug;14(8):401-4. PMID: #15308204#
Venkitaraman AR. Tracing the network connecting BRCA and Fanconi anaemia proteins. Nat Rev Cancer. 2004 Apr;4(4):266-76. PMID: #15057286#
Shamoo Y. Structural insights into BRCA2 function. Curr Opin Struct Biol. 2003 Apr;13(2):206-11. PMID: #12727514#
Tutt A, Ashworth A. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med. 2002 Dec;8(12):571-6. PMID: #12470990#
Zdzienicka MZ, Arwert F. Breast cancer and Fanconi anemia: what are the connections? Trends Mol Med. 2002 Oct;8(10):458-60. PMID: #12383764#
Wang SC, Shao R, Pao AY, Zhang S, Hung MC, Su LK. Inhibition of cancer cell growth by BRCA2. Cancer Res. 2002 Mar 1;62(5):1311-4. PMID: #11888897#
Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet. 2001 Apr ;10(7):705-13. PMID : #11257103#
Welcsh PL, Owens KN, King MC. Insights into the functions of BRCA1 and BRCA2. Trends Genet. 2000 Feb;16(2):69-74. PMID: #10652533#
Stratton MR. Recent advances in understanding of genetic susceptibility to breast cancer. Hum Mol Genet. 1996;5 Spec No:1515-9. PMID: #8875258#
Pellegrini, L.; Yu, D. S.; Lo, T.; Anand, S.; Lee, M.; Blundell, T. L.; Venkitaraman, A. R. :
Insights into DNA recombination from the structure of a RAD51-BRCA2 complex. Nature 420: 287-293, 2002.
PubMed ID : 12442171