Surveillance Recommendations:

What You Can Do if You Have Family History of Breast Cancer or a BRCA1 or BRCA2 Mutation

By, Jennifer Sollenberger, MS

Knowledge of increased cancer risk through genetic testing may provide the opportunity to pursue screening and preventive measures more aggressively. The following surveillance recommendations may allow for early breast cancer detection and prevention in women who carry BRCA1 or BRCA2 mutations. However, these recommendations were established for women considered high risk for breast or ovarian cancer based only on personal or family history.To date, the benefits of screening and prevention have not been proven in women who carry a mutation in BRCA1 or BRCA2. Clinical screening trials to evaluate this particular population are underway.

Breast Cancer Surveillance

First, it is recommended that women begin monthly self breast examination (BSE) at age 18. BSE instruction is available from many health care professionals; women should ask their physician or nurse for such instruction. Second, women at elevated risk for breast cancer are advised to have a clinical breast exam (CBE) from their physician or nurse twice a year

beginning at age 25 to 35, or 10 years prior to the earliest age of diagnosis within the family. A CBE three or four times per year is occasionally recommended for women at exceptionally high risk. Third, annual mammography may begin at age 25 to 35 as well. Unfortunately, due to increased breast density in younger women, the sensitivity of mammography is lower in this age group. Bilateral ultrasound can be a useful adjunct to mammography. Fourth, chemopreventive agents, such as Tamoxifen, may be an option for some women. Tamoxifen was shown to reduce a woman's risk of breast cancer by half, but the effectiveness in women who carry a mutation in BRCA1 or BRCA2 is unknown. Finally, some women may consider preventive removal of the breasts (prophylactic mastectomy). Although this does not guarantee that they will not get breast cancer, the risk is substantially lowered.

Ovarian Cancer Surveillance

The ability to reduce ovarian cancer with screening or prevention measures is not proven. Experts recommend that women who carry the BRCA1 or BRCA2 mutation have an annual or semi-annual transvaginal ultrasound to examine the ovaries. A bimanual pelvic examination should also be performed. Second, annual CA-125 levels may be assessed, as elevated levels may be an indication of ovarian cancer, but women should be cautioned about false positive tests which are common particularly among premenopausal women. Third, preventive removal of the ovaries (prophylactic oophorectomy) is an option for some women to lower the risk of both breast and ovarian cancer, although the possibility of cancer in the surrounding abdominal lining still exists.

Other Recommendations

Women interested in any of these options are encouraged to discuss them in greater detail with their physician, or ask for a referral to a health care professional who is able to review the risks, benefits, and limitations of each method. Finally, women who are mutation carriers may wish to periodically ask about clinical and research trials in which they might participate. Studies aimed at increasing the efficacy of screening and prevention may help to answer the question of how genetic information may be used most effectively.

Jennifer Sollenberger is a genetic counselor with The Cancer Risk Assessment Program at The Johns Hopkins Hospital.

For additional information:

Karp, SE (2000) Clinical Management of BRCA1- and BRCA2- Associated Breast Cancer. Semin Surg Oncol 18(4):296-304.