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USPSTF issues guidance on BRCA cancer screening


The U.S. Preventive Services Task Force has posted a draft evidence report and draft recommendation statement on screening for risk assessment, genetic counseling and genetic testing for BRCA-related cancer.

“Every year, too many American women and families are faced with the challenge of dealing with breast and ovarian cancer diagnosis and treatment,” Virginia Moyer, MD, MPH, task force chair, said in a news release. “We need better treatments, better screening methods and most importantly better ways to prevent cancer.”

One important step in preventing these cancers is helping women understand their risk. Mutations in the BRCA1 and BRCA2 genes are one of many factors that greatly increase a woman’s risk of developing breast and ovarian cancers. Women with these potentially harmful mutations have up to a 70% chance of developing breast cancer, or five times greater than the general population, according to the USPSTF. BRCA mutations also increase ovarian cancer risk from a lifetime risk of less than 2% to as high as 46%.

To understand whether healthcare professionals can accurately identify those who are most likely to have harmful mutations in their BRCA1 and BRCA2 genes, the task force examined the evidence on this topic to determine whether genetic counseling and testing could be effective.

Evidence shows that the vast majority of American women (over 90%), whose family histories are not associated with an increased risk for BRCA1 or BRCA2 mutations, will not benefit from genetic counseling or testing. Current tests often yield inconclusive results, and these women could be burdened with the uncertainty of whether they are at an increased risk for cancer.

Many of these women also will choose to take powerful medications or undergo major surgery to reduce their risk of developing cancer, which could lead to side effects or treatments that are unnecessary if they were not at increased risk to begin with. The task force therefore continues to recommend against genetic counseling and BRCA testing in these women.

Scientific evidence suggests BRCA1 and BRCA2 testing is beneficial only “for women who have reviewed their family history of breast or ovarian cancer with a primary care professional and discussed the pros and cons of the screening test with a trained genetic counselor,” Moyer said.

“We hope that further research into ways to use genomic science, such as identifying women who have harmful BRCA genes but do not have a family history of cancer, could improve screening practices and even prevent some cancers.”

The task force is providing an opportunity for public comment on the draft evidence report and draft recommendation statements until April 29. All public comments will be considered as the task force develops its final evidence report and recommendation.

Links to comment on the BRCA-related cancer screening draft recommendation and evidence report (and other recent draft statements) are available at


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