About The Study: In this cohort study, most participants with pathogenic variants (PVs) in breast cancer genes would not have been recommended for high-risk screening based on their clinical or clinical plus polygenic risk. PV testing therefore may identify different subsets of high-risk women than clinical risk factors and polygenic risk scores. These findings highlight the importance of population-based PV testing in risk-based screening.
Corresponding Author: To contact the corresponding author, Laura J. Esserman, MD, MBA, email laura.esserman@ucsf.edu .
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(doi:10.1001/jamaoncol.2026.2091)
Editor’s Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.
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Media advisory: This study is being presented at the 2026 American Society of Clinical Oncology Annual Meeting.
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JAMA Oncology