Risk-Reducing Options for Women with a Hereditary Breast Cancer Predisposition

Genetic testing is now widely utilized to identify women with a hereditary predisposition for breast cancer. Women who carry mutations that increase breast cancer risk may consider three options to reduce risk: screening, chemoprevention, and prophylactic surgery. Yet, no randomized trials have specifically assessed the efficacy of these options in mutation carriers. In many developed countries, mammography is regarded as the optimal means of screening for breast cancer in the general population. However, breast MRI is a more sensitive screening tool, and for mutation carriers, any breast cancer screening strategy should incorporate screening with MRI. In randomized trials of women at high risk for developing breast cancer, chemoprevention reduces that risk, but it has not been shown to reduce mortality. Finally, observational studies suggest that, in mutation carriers, prophylactic surgery may reduce the risk of developing breast cancer by 90-95%. There are several prophylactic mastectomy procedures to choose from, and these are generally done in conjunction with breast reconstruction. In this article, we discuss management of women who carry mutations that have been associated with an increased breast cancer risk. Mutation carriers should be informed of the potential risks and benefits of the three available options to reduce breast cancer risk.