Prophylactic mastectomy in familial breast carcinoma. What do the pathologic findings learn us?

To evaluate the indications, techniques and pathologic findings of prophylactic mastectomy (pME).

Retrospective study of patients with a strong family history of breast cancer (and ovarian cancer) or with proven BRCA mutation.

Between January 1995 and December 2005, sixty seven patients underwent pME: 15% had a BRCA1 mutation, 31% had a BRCA2 mutation and 33% had a strong family history but without proven BRCA mutation and in 21% mutation analysis was not performed. Fifty eight percent had a personal history of breast cancer of which 84% previously underwent a unilateral mastectomy as part of their treatment. The median time to decision from previous treatment for breast carcinoma to pME was 46 months. Mean age at pME was 43 years. Pathologic examination of the pME specimens revealed invasive and/or in situ carcinoma in 19% (13/67). Atypical ductal/lobular hyperplasia (ADH/ALH) or flat epithelial atypia (FEA) were present in another 3%.

Twenty two percent of women at high risk for breast cancer presented at the time of pME with invasive carcinoma or intra-epithelial neoplasia undetected by imaging and clinical examination.