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Population-based pathogenic variant testing identified breast cancer susceptibility gene carriers who would often be missed by clinical risk models, even when polygenic risk scores were added. In the WISDOM Study analysis, fewer than 1% of high-penetrance variant carriers would have received the same high-risk screening recommendation using clinical plus polygenic risk alone.

Lung cancer is the most common and deadly form of cancer worldwide. It is increasingly understood to be a complex genetic disease with different mutations that vary according to factors such as smoking and ethnicity.