Background
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of
developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of
genome stability, specifically the homologous recombination pathway for double-strand DNA
repair. The largest exon in both genes is exon 11, which harbors the most important and
frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome
13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the
BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in
DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations
generally exhibit loss of heterozygosity (LOH) of the wild-type allele.
