Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations

What proportion of women with pathogenic variants (PVs) in breast cancer genes would receive high-risk screening using models based on clinical risk alone or clinical plus polygenic risk?In this cohort study including 712 women with a PV, most would have received less intensive screening based on their clinical and polygenic risk. For instance, less than 1% with a high-penetrance PV would have been recommended magnetic resonance imaging alternating with mammography every 6 months based on their clinical and polygenic risk.In this study, most participants with PVs in breast cancer genes would not have been recommended for high-risk screening based on their clinical risk alone or clinical plus polygenic risk.

Corresponding Author: Laura J. Esserman, MD, MBA, University of California, San Francisco, 1825 4th St, Precision Cancer Medicine Building, 3rd Floor, San Francisco, CA 94158 (laura.esserman@ucsf.edu).

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