BRCA1

In 1990, a breast cancer susceptibility gene, designated BRCA1, was localized to chromosome 17q. Mutations within this gene are believed to account for approximately 45% of families with high incidence of breast cancer and at least 80% of families with increased incidence of both early-onset breast cancer and ovarian cancer. A second breast cancer susceptibility gene, BRCA2, located on chromosome 13q12-13, also confers a high incidence of breast cancer but, unlike BRCA1, does not confer a substantially elevated risk of ovarian cancer. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino terminal region, but is otherwise unrelated to any previously described proteins. Like many other genes involved in familial cancer, BRCA1 appears to encode a tumor suppressor, a protein that acts as a negative regulator of tumor growth.