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Population-based testing for breast cancer pathogenic variants identified many women who would not have been flagged by clinical or polygenic risk models, supporting its role in risk-based screening.
The WISDOM trial found that 3.1% of women without breast cancer carried pathogenic variants in key susceptibility genes, many outside existing testing guidelines.
This study evaluates cumulative breast cancer risks among US women based on pathogenic variant status and family history, revealing significant risk stratification that informs personalized screening and prevention.