BRCA2

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