Introduction of BRCA1 and BRCA2 gene mutation analysis has increased interest in prophylactic mastectomy and immediate breast reconstruction as a risk reduction measure for women at increased risk of breast cancer. Prophylactic mastectomy has been suggested to decrease the risk of breast cancer by at least 90%. Because the cosmetic result of immediate breast reconstruction may not be optimal, nipple sensation is lost, and capsule contraction may cause problems when silicon prostheses are used, the patients should be well informed of risks and other preventive methods. Surveillance or chemoprevention are suggested as alternatives to risk reduction mastectomy, but there is lack of prospective randomised trials comparing these options. Because BRCA1 and BRCA2 gene mutations also increase risk of ovarian cancer, management of these patients should be shared by the breast surgeon and gynaecologist.