BRCA1 (Breast Marker)

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.

[breast cancer type 1 susceptibility protein isoform 1; Breast cancer type 1 susceptibility protein; breast cancer type 1 susceptibility protein; BRCA1, DNA repair associated; RING finger protein 53; RING-type E3 ubiquitin transferase BRCA1Curated]