Breast cancer is the most common female malignancy and a major cause of dea
th in middle-aged women. A positive family history of breast cancer is one
of the strongest risk factors for the disease. In addition, many afflicted
breast cancer families are characterized by early onset and bilateral tumor
s, and also, in some cases, associated malignancies, most commonly ovarian
cancer. It is estimated that 5-10% of all breast cancer cases are due to au
tosomal dominant genes segregating with the disease. Mutations in the BRCA1
and BRCA2 genes are known to predispose to breast and ovarian cancer in ma
ny families. Other genes are only involved in very rare syndromes, and addi
tional genes remain to be disclosed.