Germline pathogenic variants among women without a history of breast cancer: secondary analysis of the WISDOM trial

The prevalence of pathogenic or likely pathogenic variants in breast cancer susceptibility genes in the US population remains largely unknown because population-based genetic screening is not routinely performed. A secondary analysis of personalized arm of the WISDOM trial (n=23,098 women) found pathogenic variants in 714 participants (3.1%; 2.6% of those previously unaware of their pathogenic variant). Approximately 30% of these carriers (180 of 605) did not report common family history risk factors that determine eligibility for germline testing. The authors conclude that 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.