Task Force: Breast and Ovarian Cancer Survivors and Women of Certain At-Risk Ancestry Added to Patients Who Should Be Assessed for Risk of Having the BRCA1/2 Gene Mutation


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Breast cancer is the second-most common cancer in the United States in women after nonmelanoma skin cancer — and the second leading cause of cancer deaths, after lung. 

Of the estimated 252,710 women who were diagnosed in 2017 with breast cancer, 40,610 died of the disease, or about 16%.

The odds of death from breast and ovarian cancer grow even greater when women have genetic mutations known as BRCA1and BRCA2. The mutations — which can make it harder for tumor-suppressing proteins to attack cancer cells — occur in 1-in-300 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases.

The risks of ovarian and breast cancer are as high as 45% and 70%, respectively, in women carrying the genetic mutations. So the U.S. Preventive Services Task Force in 2005 and 2013 recommended genetic counseling for women with a high-risk family history of breast or ovarian cancer.

The Task Force is updating its recommendation for primary-care clinicians: They should now consider women with previous breast cancer or ovarian cancer who are considered cancer-free for genetic counseling — and more explicitly include ancestry as a risk factor.

The recommendations were published on Aug. 20 in the Journal of the American Medical Association.

“Some women can benefit from risk assessment, genetic counseling, and genetic testing, but not all women need these services. We suggest women talk to their clinicians and decide on best next steps together,” said Stanford Health Policy’s Douglas K. Owens, chair of the independent, voluntary panel of national experts in prevention and evidence-based medicine.

The Task Force notes that some ancestries are associated with increased risk of BRCA1/2mutations. An accompanying editorial in JAMA by Susan Domchek, MD, and Mark Robson, MD, notes that 1-in-40 random individuals of Ashkenazi Jewish descent have 1 of 3 specific BRCA1or BRCA2founder mutations, compared with 1-in-300 in the general population.

Genetic risk assessment and BRCA1/2mutation testing is a multi-step process that begins with identifying patients with a family or personal histories of breast, ovarian, tubal, or peritoneal cancer; family members with known harmful BRCA1/2mutations; or ancestry associated with harmful BRCA1/2 mutations. 

Clinicians should begin with a family and personal history for all women, Owens said.

“If this raises concerns about increased risk, the Task Force recommends that primary care clinicians use one of the available validated risk-assessment instruments to further assess the risk for BRCA1/2mutations.”

If the instrument indicates increased risk for BRCA1/2mutations, clinicians should refer patients for genetic counseling. Women found to be at increased risk from genetic counseling should then be referred for mutation testing, Owens said.

Listen to this podcast about the new USPSTF recommendations.

In another accompanying editorial published by JAMA Network Open, researchers note that since the new recommendations add ethnicities and ancestries associated with BRCA1or BRCA2gene variants, the number of testable patients has now been expanded.

“With the increase in women eligible for counseling and testing under these recommendations and the explicit directive for primary care practitioners to consider clinical genetics training … the oncology community should welcome the opportunity to better integrate comprehensive cancer risk assessment and genetic testing for BRCA1and BRCA2into routine preventive medicine,” they write.

Population-based risk assessment may increase insurance coverage and clinician-directed access to cancer genetic testing for up to 50% more women in the primary care setting than family history-based risk assessment alone, writes Olufunmilayo I. Olopade, MD, an expert in cancer risk assessment at the Center for Clinical Cancer Genetics and Global Health at the University of Chicago.

She and her co-authors note that researchers are also finding higher BRCA1and BRCA2 mutation frequencies across more diverse populations than previously realized. The genetic mutations have been identified in 12% to 18% of African-American patients with breast cancer; Hispanic high-risk patients living in the southwest of the United States, with a personal family history of breast or ovarian cancer, were found to have mutations rates as high as 25%.

Yet not as many African-American and Hispanic women get tested for the BRCA gene compared with white women, due to less awareness about genetic testing, distrust in the medical system, lower education levels and lack of physician referrals. 

And then there’s the cost.

“The cost of testing, now at $250 out of pocket if not covered by third-party payers, continues to remain an understandable point of concern for patients and the health-care system, but can be consciously addressed to reduce disparities in testing,” they write.

Olopade and her colleagues note there are fewer than 700 cancer-specific genetic counselors in the United States, relative to the more than 300,000 primary care physicians.

“Expanding access to genetic counseling and testing across the medical spectrum of care to primary care is not only appropriate, but also critical,” they said.