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Expert panel updates advice on breast cancer BRCA gene screening

Mutations in BRCA genes are associated with increased risks for breast, ovarian and other cancers

Mutations in the BRCA1 and BRCA2 genes are associated with increased risks for breast, ovarian, and other cancers, but only certain women stand to benefit from genetic testing, according to updated recommendations from the U.S. Preventive Services Task Force (USPSTF).

"Whether or not the harms of risk assessment, counseling, testing, and interventions outweigh the benefits depends on a woman's individual risk profile and family history," Dr. Douglas K. Owens, Task Force member from Stanford University in California, told Reuters Health by email.

"That is why it is important for women who are concerned about their risk of having a BRCA mutation to discuss benefits and harms with their doctor," he added.

Owens and his colleagues on the government-backed USPSTF reviewed all the available evidence before updating the panel's recommendations on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. The updated documents appear in the Journal of the American Medical Association.

"Each step in the process can be complex," Owen said.

As a first step, the USPSTF says, women with a personal or family history of breast, ovarian, fallopian tube, or peritoneal (the lining of the abdominal cavity) cancer and women whose ethnic background is associated with an increased risk of BRCA mutations should be evaluated with one of several risk assessment tools. These tools accurately assess the likelihood of carrying a harmful mutation in one of these genes.

If the risk assessment suggests an increased likelihood of carrying a harmful BRCA mutation, the woman should have genetic counseling, and possibly, genetic testing.

"Sometimes it makes sense for a woman to only get an assessment and undergo counseling, but not genetic testing," Owen said. "It is also important to note that test results are complex and can't always definitively tell a woman if she has a potentially harmful mutation that will lead to cancer."

The USPSTF recommends genetic testing if a woman's history suggests a potential for inherited cancer risk, but even then, only if the test results will help her make decisions about further evaluation and treatment.

Possible interventions could include more intensive screening for BRCA-related cancers, medications that might reduce the risk for developing these cancers, and surgeries that further reduce risk (by removing breasts, ovaries and fallopian tubes).

Dr. Susan Domchek from Basser Center for BRCA at the University of Pennsylvania in Philadelphia, who co-authored an editorial published with the recommendation, told Reuters Health by email, "Many individuals at high risk of having a BRCA1/2 mutation are not tested. Oncologists, primary care doctors, gynecologists, other health care providers, and patients should all be aware of the options for genetic testing. At the same time, we should all strive to reduce barriers and ensure equitable access to genetic testing."

Dr. Larissa A. Korde from National Cancer Institute, Rockville, Maryland, who co-authored another related editorial, told Reuters Health, also by email, "I think awareness of a cancer family history is the key for both patients and physicians."

"Knowing which cancers are associated with BRCA mutation, in both men and women, will lead to the successful identification of those who should be tested," Dr. Korde said.

SOURCE:,,,,, and, online August 20, 2019.

By Will Boggs MD