Disease relevance of BRCA2

• BRCA2 is a tumor suppressor gene that is linked to hereditary breast and ovarian cancer [1].
• These genes encode components of the FA "core" complex, a key factor FancD2, the familial breast cancer suppressor BRCA2/FancD1, and Brip1/FancJ helicase [2].

High impact information on BRCA2

• Although recent evidence supports at least Xrcc3 and Rad51C playing a role late in HR, our data suggest that Brca2 and the Rad51 paralogs may also contribute to HR at the same early step, with their loss resulting in the stimulation of an alternative, error-prone repair pathway [1].
• Because BRCA2 functions in DNA repair via homologous recombination, this leads to genomic instability [3].
• However, it is unclear whether loss of the wild type allele is stochastic or if heterozygosity for BRCA2 mutation carries a phenotype that contributes to tumorigenic progression [3].
• Thus in certain cell types, genome instability might be driven directly by heterozygosity for BRCA2 mutation [3].
• Among 311 missense mutations listed as unclassified variants in the NIH Breast Cancer Information Core database, only 83 of these sites are identical in chicken BRCA2 [4].

References