USPSTF: Screen women with increased risk for BRCA1, BRCA2 mutations
The U.S. Preventive Services Task Force recommends that primary care physicians screen women with a familial risk assessment tool if they have family history of breast, ovarian, tubal or peritoneal cancer, or if they have an ancestry associated with BRCA1 or BRCA2 mutations.
The recommendations, published in JAMA, suggested that women who screen positive should undergo genetic counseling and possible genetic testing (B recommendation). The USPSTF does not recommend women undergo risk assessment, genetic counseling or testing if they do not have a family history or ancestry associated with the BRCA1 or BRCA2 mutations (D recommendation).
The recommendations are based on a systematic review of 103 studies including 92,712 patients, conducted by Heidi D. Nelson, MD, MPH, MACP, FRCP, of Oregon Health & Science University, and colleagues.
Each component of the recommendations may not apply to all women, according to Douglas K. Owens, MD, MS, task force chair and general internist at the Veterans Affairs Palo Alto Health Care System.
“Some women can benefit from risk assessment, counseling, and testing, but not all women need these services. We suggest women talk to their clinicians and decide on the best next steps together,” he said in a press release.
Owens and colleagues wrote that the estimated prevalence of the “potentially harmful” BRCA1 and BRCA2 genetic mutations is 6% in women whose cancer starts before they turn 40 years of age, 2.1% among Ashkenazi Jewish women and 0.2% to 0.3% among all women.
The recommendations mirror the 2013 USPSTF recommendations for screening, but more evidence has emerged since then, he noted.
“Since 2013, the validity of genetic testing for BRCA1/2 mutations has been established and the potential benefits and harms of previously reviewed interventions, such as risk-reducing medications and surgery, have been studied for longer follow-up periods. In addition, there have been more studies of newer imaging techniques (breast MRI), surgical procedures (salpingo-oophorectomy rather than oophorectomy alone), and medications (aromatase inhibitors),” Owens and colleagues wrote.
“The updated recommendation expands the population eligible for screening to include women with a previous breast, ovarian, tubal, or peritoneal cancer diagnosis who have completed treatment and are considered cancer free and more explicitly includes ancestry associated with BRCA1/2 mutations (ie, founder mutations) as a risk factor,” he added.
These changes in guidance bring added responsibilities, Susan Domchek, MD, of the University of Pennsylvania, and Mark Robson, MD, of the Memorial Sloan Kettering Cancer Center in New York City, wrote in a related editorial.
“As consideration of criteria for testing for BRCA1/2 pathogenic variants is broadened, it is important to recognize the evolving complexities of testing options and increase education for physicians and other health care professionals to navigate the landscape. In addition, uptake of testing among individuals at the highest risk must improve, and persistent disparities in testing must be resolved,” they wrote. – by Janel Miller
Domchek S, Robson M. JAMA. 2019;doi:10.1001/jama.2019.9688.
Nelson HD, et al. JAMA. 2019;doi:10.1001/jama.2019.8430.
USPSTF. JAMA. 2019;doi:10.1001/jama.2019.10987.
Disclosures : Domchek reports receiving personal fees from AstraZeneca, Bristol-Myers Squibb and Clovis. Nelson and Owens report no relevant financial disclosures. Robson reports receiving grants, personal fees and nonfinancial support from AstraZeneca; nonfinancial support from Pfizer; personal fees from McKesson; and research support to his institution from AbbVie, Myriad Genetics (in kind), Invitae (in kind), Pfizer and Tesaro. Please see report for all other authors’ relevant financial disclosures.