New Task Force Recommendations for BRCA Mutation Screening

January 2, 2014
Anna Azvolinsky

Updated recommendations issued by the USPSTF state that primary care physicians should screen women who have a family history of either breast, ovarian, tubal, or peritoneal cancers for BRCA1 or BRCA2 mutations.

Updated recommendations issued by the United States Preventive Services Task Force (USPSTF) state that primary care physicians should screen women who have a family history of either breast, ovarian, tubal, or peritoneal cancers as they may be carriers of a mutation in one of the breast cancer susceptibility genes-BRCA1 or BRCA2. Screening should be done with one of several screening tools available and included in the current update.

The task force recommends against testing for women who have an average risk of being diagnosed with breast cancer.

“The goal of the recommendation is to encourage clinicians to assess a woman’s family history of BRCA-related cancers, so as to identify those women who may benefit from further evaluation,” Douglas K. Owens, MD, professor and director of the Center for Health Policy at the Stanford University School of Medicine and one of the USPSTF members, told Cancer Network in an email.

The current update from the task force, which is chaired by Virginia A. Moyer, MD, MPH, reaffirms the last update of these recommendations made in 2005.

“The main change is that there is now evidence to support the use of screening tools that clinicians can use to screen women and identify those who are candidates for genetic counseling and further evaluation,” said Owens. “The grades of the recommendation have not changed.”

The updated recommendations are published in the Annals of Internal Medicine.

Those women who have one or more family member with a potentially harmful BRCA mutation should be offered genetic counseling and testing.

The tools listed in the recommendation include the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, and the FHS-7 tool. All are questionnaires that add up risk factors for these cancers such as the number of family members with a history of breast or ovarian cancer and the age of onset. The tools are a way to help clinicians discuss whether there are factors present that make it more likely their patient is a BRCA mutation carrier. The task force estimates that the tools are more than 85% sensitive. No one test was recommended for use over another.

The two most simple and quickest to use, according to the task force, are the Referral Screening Tool and FHS-7.

Use of these structured screening tools to assess the need for more in-depth genetic counseling may be relatively new for some clinicians, Owens noted.

BRCA mutation testing should only be done for those patients who have either a personal or family history that suggests a role of inherited cancer susceptibility. Testing for these mutations are now more widely available following a June 2013 decision by the Supreme Court.

In the United States, approximately 12.3% of women will develop breast cancer during their lifetime and 2.7% will die of their disease according to the National Cancer Institute. About 1.4% will develop ovarian cancer and 1% will die of their disease.

Analyses of the penetrance of BRCA1 and BRCA2 genes suggest that a woman’s risk of a breast cancer diagnosis jumps from 45% to 65% by the age of 70 if she is a carrier of a deleterious BRCA mutation. A mutation in the BRCA1 gene increases ovarian cancer risk to about 39% by age 70 and to 10% to 17% for those who are BRCA2 mutation carriers.

Between 1 in 300 and 1 in 500 women carry a BRCA mutation (between 0.2% and 0.3% of the population) with a higher prevalence (about 2.1%) for the general Ashkenazi Jewish women population.

Understanding the chance of being diagnosed with breast cancer is important. A recent survey and analysis of more than 2,500 adults published in Genetics in Medicine shows that despite the recent coverage of breast cancer risk and Angelina Jolie’s decision to undergo a double mastectomy, women still do not have a better understanding of breast cancer risk including how rare Angelina Jolie’s decision was and what to do if one is positive for a deleterious mutation that confers an increased cancer risk.

The study also showed that many did not understand the relationship of overall cancer risk and risk in the context of a family history of cancer. “Perhaps even more striking and worrisome is that about half of all individuals aware of the story and without a family history of cancer rated their cancer risk as lower than the population average relative to those without a family history and unaware of the story,” said the authors.

This type of analysis points to a greater need for primary care physicians to discuss cancer risk with patients to guide their education and awareness about the issue, particularly as the genetics of cancer is increasingly an important factor in diagnosis and treatment.

The endorsement of family history screening tools to identify candidates for testing could be problematic because the correct threshold for testing is still not resolved, noted Mark Robson, MD, an oncologist who specializes in identifying and managing women with inherited breast cancer risk and the director of the clinical genetics service at the Memorial Sloan-Kettering Cancer Center in New York.

“The limitation here is that USPSTF has not provided guidance about testing for affected women, who should be the first ones tested in a family,” said Robson in an email. “The USPSTF has not really provided much in the way of endorsement for the screening and prevention interventions that would follow from testing.”