Synonyms: BRCA 1,BRCA1,BRCA1 DNA repair associated,BRCA1/BRCA2 containing complex subunit 1,BRCA1/BRCA2-containing complex,subunit 1,BRCA1,BRCAI,BRCC 1,BRCC1,Breast and ovarian cancer susceptibility protein 1,Breast Cancer 1,Breast Cancer 1 Early Onset,Breast cancer type 1 susceptibility protein,BROVCA1,FANCS,IRIS,PNCA4,PPP1R53,Protein phosphatase 1 regulatory subunit 53,PSCP,RING finger protein 53,RNF53
Background: This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40 % of inherited breast cancers and more than 80 % of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified.