Frequently Asked Questions

What are the current surveillance/treatment options for carriers of BRCA1/BRCA2 mutations?

Women who carry BRCA1 and 2 mutations are at a significant increased risk for breast and sometimes-ovarian cancer. Recommendations for screening include:

Annual mammograms starting at age 25-35
Annual clinical breast examinations starting at age 25-35
Monthly breast self-examinations
Transvaginal ultrasound with color doppler and CA125 levels

Patients should be encouraged to discuss these recommendations in detail with a primary care physician.

For women at high risk, prophylactic bilateral mastectomy has been shown to reduce the risk of developing breast cancer, and can be discussed as an option. It is important for women to understand that this option does not completely eliminate their risk, and additional screening options following surgery should be addressed as well.

Tamoxifen has been shown to reduce the risk of developing breast cancer in women at high risk by approximately 50% to 60%. However, studies are on-going to determine if this risk reduction is similar in BRCA1 and BRCA2 mutation carriers. Results of this work will become available in a few years.

Burke W et al. Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: II. BRCA1 and BRCA2. JAMA; 277: 997-1003,1997.

Ovarian Cancer: Screening, Treatment, and Follow-up. NIH Consensus Development Panel on Ovarian Cancer. JAMA; 273:491-97, 1995.