Pros and Cons of Universal Screening of Women for BRCA Mutations

Andrew M. Kaunitz, MD


October 15, 2014

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Following the media attention around Angelina Jolie's risk-reducing breast surgery, the public's awareness of BRCA mutations has certainly increased.

The US Preventive Services Task Force[1] recommends against routine genetic counseling or BRCA testing in women whose family histories are not associated with excess risk for mutations. In contrast, Dr Mary-Claire King, who was recently honored with the Lasker Award for her discovery of the BRCA1 mutation, advocates for universal screening of women in their 30s.

Usually, screening for BRCA mutations has been performed in women with a personal or family history suggestive of hereditary breast or ovarian cancer. Uncertainty about the cancer risk for women found to be mutation carriers but without personal or family histories of breast cancer has led to resistance against universal screening.

In a JAMA editorial,[2] Dr King and coauthors discuss a recent study that looked to identify women mutation carriers with no family or personal history of breast or ovarian cancer.[3] This study started by screening healthy Ashkenazi Jewish men, a population in which BRCA mutations are known to be prevalent. Women found to be mutation carriers, strictly because they were related to these male carriers, had a 60% risk for breast and/or ovarian cancer by age 60, confirming that regardless of history, harboring a mutation places women at high risk.

Based on other data,[3] King and colleagues point out that 50% of families with BRCA 1/2 mutations have no ominous histories of breast or ovarian cancer, and that female mutation carriers within such families have cancer risks similar to those seen in carriers from families with numerous affected relatives.

As Dr King states, many women are identified as mutation carriers only after they have been diagnosed with cancer, underscoring the advantages of universal screening.

I agree that universal screening can prevent deaths from BRCA-related malignancies; however, such a strategy faces major challenges. Screening costs in Ashkenazi Jewish individuals are relatively low because a limited number of mutations account for most relevant mutations in this population. Costs rise substantially when diverse populations are screened. Also, screening currently identifies many genetic variations of unknown significance, causing confusion for both clinicians and patients.

A last point is that the limited availability of trained genetics counselors in the United States raises concerns that women who are found to have deleterious mutations may choose life-altering interventions without adequate guidance. Thank you. I am Andrew Kaunitz.


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