Germline Pathogenic Variants Among Women Without a History of Breast Cancer

Among women without a history of breast cancer, what is the prevalence of pathogenic variants in breast cancer susceptibility genes, and what are the characteristics of women who have pathogenic variants in these genes?In the personalized arm (n = 23 098 women) of a large US breast cancer screening trial comparing annual screening mammography with personalized screening through clinical risk models and genetic testing, pathogenic variants were detected in 714 participants (3.1%; 2.6% of those previously unaware of their pathogenic variant). Approximately 30% of these carriers (180 of 605 women with PVs) did not report common family history risk factors that determine eligibility for germline testing.Criteria-independent genetic testing yielded more women with high-penetrance and intermediate-penetrance breast cancer susceptibility genes who may benefit from changes in clinical management.

Corresponding Author: Lisa Madlensky, PhD, Moores UCSD Cancer Center, Department of Medicine, University of California, San Diego, 3855 Health Sciences Dr, #0901, La Jolla, CA 92093 (lmadlensky@health.ucsd.edu).

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