Prophylactic mastectomy and genetic testing: an update

To examine and discuss the possible benefits and difficulties with recommending prophylactic mastectomy to BRCA1- and BRCA2-positive women.

Published research articles, professional review articles, textbooks.

Women with BRCA1 and BRCA2 mutations face a much higher risk of developing breast cancer than the general population, with limited options available for prevention. Prophylactic mastectomy has been shown to have a survival advantage in young women who carry BRCA1 and BRCA2 mutations. Challenges exist, however, in the use of prophylactic mastectomy and genetic testing.

Methods of preventing breast cancer in BRCA1- and BRCA2-positive women currently are limited to watch-and-wait surveillance, prophylactic mastectomy, and, perhaps, chemoprevention. Genetic testing and prophylactic mastectomy each present unique challenges while offering certain benefits as well. Recent studies have shown survival advantages to BRCA1- and BRCA2-positive women who undergo prophylactic mastectomy.

Nurses need to be aware of the complex issues surrounding testing for BRCA1 and BRCA2 mutations and prophylactic mastectomy to be able to provide current information to patients and assist in decision making.