Conover, Robert Freemont

Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 () gene. Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. BRCA1 is a caretaker gene (responsible for repairing DNA), a type of tumor suppressor gene. BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissues, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double-strand breaks. 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 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins". The predominant allele has a normal, tumor-suppressive function, whereas high penetrance mutations in these genes cause a loss of tumor-suppressive function, which correlates with an increased risk of breast cancer. BRCA1 combines with other tumor suppressors, DNA damage sensors and signal transducers...