Considerations for comprehensive assessment of genetic predisposition in familial breast cancer.

About 10-15% of breast cancer cases are family related, classified as familial breast cancer. The disease was first reported in 1866 and determined to be an autosomal dominant genetic disease in 1971. Germline mutations in BRCA1 were discovered and deemed as the first genetic predisposition for the disease in 1994.

Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations.

Objective: Prophylactic surgical removal of the ovaries has been offered for many years as a potential preventative of ovarian cancer in women deemed to be at increased hereditary risk for this disease. Now, it is possible to test for specific mutations of the BRCA1 and BRCA2 genes that render members of hereditary breast ovarian cancer (HBOC) syndrome families susceptible to cancer. Widespread intra-abdominal carcinomatosis, which mimics metastatic ovarian serous carcinoma, has been reported following oophorectomy in individuals at increased hereditary risk.