Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations: A Secondary Analysis of the WISDOM Study

Why This Study Matters

Risk-based breast cancer screening is designed to match screening intensity to a person’s estimated chance of developing breast cancer. Instead of giving every woman the same screening schedule, this approach uses information such as age, family history, breast density, prior biopsies, and genetic factors to decide who may benefit from earlier or more intensive screening, including breast MRI.

This study asks an important question: if a woman carries a pathogenic variant, or PV, in a breast cancer susceptibility gene, would her clinical risk profile alone—or her clinical risk plus a polygenic risk score—have identified her as someone who should receive high-risk screening? The answer matters because PV testing may detect people who would otherwise be missed by standard risk models.

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