carcinoma. Hereditary breast carcinoma is associated with a young age at onset and Department of Medicine, Women's College Hosa family history of ovarian carcinoma. Families with the breast-ovarian carcinoma pital, The Centre for Research in Women's syndrome often carry mutations in the BRCA1 gene. Families with both male and Health, Toronto, Ontario, Canada.
female cases of breast carcinoma more often carry mutations in the BRCA2 gene. However, the genetic basis for the majority of families with site specific breast carcinoma remains unknown. Testing for breast carcinoma susceptibility is currently underway in several laboratories in North America. The ideal management of women with mutations is uncertain. The relative benefits of prophylactic breast surgery versus mammographic screening are unclear. It is hoped that use of oral contraceptives will be found to reduce the risk of ovarian carcinoma and that tamoxifen will reduce breast carcinoma risk. There is some concern that the use of hormone replacement therapy may pose a risk to carriers of BRCA1 or BRCA2 mutations. Studies of cohorts of BRCA1 and BRCA2 carriers are underway in an effort to answer those questions.