Genes (breast cancer genes, BRCA1, BRCA2) associated with an inherited predisposition to breast–ovarian carcinoma syndrome, although other genes are also involved. The nuclear protein BRCA1 (1863 aa) is part of a large multiprotein tumour-suppressor complex (BRCA1-associated genome surveillance complex, BASC) associated with DNA damage repair, ubiquitination, and transcriptional regulation to maintain genomic stability. BRCA2 (Fanconi anaemia group D1 protein, 3418 aa) is involved in DNA double-strand break repair and homologous recombination. Variations in BRCA2 may also be responsible for susceptibility to uveal melanoma. See BARD; BRCT domain; bridging integrators.
Subjects: Medicine and Health.