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

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 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