BREAST CANCER TYPE 1 SUSCEPTIBILITY PROTEIN

BRCA1 (Breast cancer type 1 susceptibility protein) is a protein encoded by the BRCA1 gene. BRCA1 is a human tumor suppressor gene, also known as a caretaker gene and is responsible for repairing DNA. The human BRCA1 gene is located on the long (q) arm of chromosome 17 at region 2 band 1, from base pair 41,196,312 to base pair 41,277,500. BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer.

BRCA1 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). The BRCA1 protein associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. Thus, this protein plays a role in transcription, and DNA repair of double-strand DNA breaks, ubiquitination, transcriptional regulation as well as other functions.

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Editorial Assistant,

Journal of Clinical Genomics,

genomics@molecularbiol.com