The U.S. Preventive Services Task Force (USPSTF) has recommended that undiagnosed women at high risk for breast cancer because of a family history of breast or ovarian cancer should be offered genetic counseling and genetic testing by their primary care doctors to see if they have an abnormal BRCA1 or BRCA2 gene.
The recommendation is only for non-diagnosed women with a family history of breast or ovarian cancer. The USPSTF recommended against routine genetic testing for women who don’t have a family history of those two cancers. The recommendation doesn’t include men, though family members who are men might be tested.
The recommendations were published online on Dec. 24, 2013 by the Annals of Internal Medicine. Read the abstract of “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement.”
The USPSTF is a group of experts that makes recommendations to the U.S. Department of Health and Human Services on policies to prevent diseases. The task force reviewed many studies on genetic testing and risk to develop its recommendation statement. This statement is an update of the last statement released in 2005.
Most inherited cases of breast cancer are associated with one of two abnormal genes: BRCA1 (BReast CAncer gene one) or BRCA2 (BReast CAncer gene two).
Women with an abnormal BRCA1 or BRCA2 gene:
- have up to an 85% lifetime risk of developing breast cancer
- have a much higher-than-average lifetime risk of ovarian cancer; estimates range from 15% to 60%
Women with an abnormal breast cancer gene have a number of options to reduce breast cancer risk, as well as ways to detect any cancer that develops early, when it's most treatable. These risk reduction steps include:
- a more aggressive screening plan starting at an earlier age
- hormonal therapy to block the effect of estrogen on breast tissue or reduce the amount of estrogen in the body
- removing the healthy breasts (prophylactic mastectomy)
Some women with an abnormal BRCA1 or BRCA2 gene also may consider having healthy ovaries removed because of the increase in ovarian cancer risk. Removing the ovaries also dramatically lowers estrogen levels and lower estrogen levels can reduce the risk of hormone-receptor-positive breast cancer.
Knowing that a woman has an abnormal BRCA1 or BRCA2 gene also is important information for the other women and men in her immediate family to have; they also may be carriers and at a higher risk of cancer.
The Gail score is a standard breast cancer risk assessment tool that assesses breast cancer risk based on a series of personal health questions that women and their doctors answer together. The questions ask about risk factors such as age, child-bearing history, family history of breast cancer, and breast biopsy results. The Gail score estimates the risk of developing invasive breast cancer in the next 5 years. If you think you may be at high risk for breast cancer because of family history, you might want to talk to your doctor about your personal and family medical history. You also may want to ask your doctor to consider calculating your Gail score and then talk about what it means. You also may want to ask your doctor if genetic testing or a referral to a genetic counselor makes sense for you.
For more information, visit the Breastcancer.org Genetic Testing pages.