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Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations: A Secondary
Yiwey Shieh1, Rachel S Heise1, Lisa Madlensky2
1Department of Population Health Sciences, Weill Cornell Medicine, New York, New York.
JAMA Oncology
|May 31, 2026
Summary
Pathogenic variant (PV) testing identifies different high-risk women for breast cancer screening than clinical risk factors alone. This supports population-based PV testing in risk-based screening strategies.
Area of Science:
- Oncology
- Genetics
- Public Health
Background:
- Risk-based breast cancer screening is an alternative to annual mammography.
- Knowledge on pathogenic variant (PV) testing's contribution to risk stratification is needed.
Purpose of the Study:
- To evaluate how many PV carriers would be recommended for high-risk screening based on clinical risk or clinical plus polygenic risk.
- To compare screening assignments informed by PV status versus clinical risk models.
Main Methods:
- Retrospective cohort study using WISDOM Study data.
- Included women aged 40-74 with a PV.
- Compared PV status-informed assignments with clinical risk model or clinical plus polygenic risk score assignments.
Main Results:
- Little overlap was found between PV status-informed and risk model-informed screening assignments.
- Among high-penetrance PV carriers, only 0.9% would have received the same high-risk screening recommendation based on clinical plus polygenic risk.
- Most PV carriers aged 40-49 would have been recommended to defer screening, and most aged 50-74 would have been recommended biennial mammography based on clinical plus polygenic risk.
Conclusions:
- Most participants with PVs would not have been recommended for high-risk screening based on clinical or clinical plus polygenic risk.
- PV testing identifies different high-risk women compared to clinical risk factors and polygenic risk scores.
- Population-based PV testing is important for risk-based screening.
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