Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk

Several genetic mutations previously linked to breast cancer and included on commercial genetic tests, including direct-to-consumer tests, were found not to increase a womans risk of disease, according to a population study of more than 64,000 women published online on January 20, 2021 in theNew England Journal of Medicinefrom several institutions, includingPenn Medicine. The findings show that risks associated with mutations for women in the general population are often lower than previous estimates, and, importantly, provide new insights informing the debate over whom should be recommended for genetic testing.

Penn Medicine authors on the paperwhich analyzed data from the CARRIERS study, or CAnceR RIsk Estimates Related to SusceptibilityincludeKatherine L. Nathanson, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in thePerelman School of Medicine at the University of Pennsylvania,andSusan M. Domchek,executive director of theBasser Center for BRCAat the Abramson Cancer Center. Fergus J. Couch, of the Mayo Clinic, was the papers senior author.

According to past estimates, seven to ten percent of women with breast cancer carry pathogenic variants in genes associated with an increased risk. However, that statistic is based largely on studies of high-risk women, including those with a family history or a young age at the time of their cancer diagnosis.

This studythe first to look at a large group of women of different ages from the general populationsuggests that the frequency of pathogenic variants in genes associated with breast cancer risk among women in the general population is five percent. Further, of the 28 breast cancer genes studied, only 12 had clear evidence of associated cancer risk.

Recommendations for genetic screening vary, from testing all patients for genes associated with breast cancer to testing affected and unaffected women based on risk stratification. Many commercially available hereditary genetic tests also include a slew of genes that now appear, based off these findings, to not increase risk, which has the potential to lead to the delivery of misinformation, as well as affect treatment decisions.

This multi-institutional, collaborative study shows us a clearer picture of risk and genetic drivers for women in the general population who dont fall under the high-risk category, Dr. Domchek said. As discussions continue regarding the role of population screening, the CARRIERS data support careful gene selection.

For more information, visit https://tinyurl.com/BCmutations

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Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk - UPENN Almanac

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