Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants

Abstract

This study found that compared with previous clinical care, exome sequencing-based screening identified 5 times as many individuals with P/LP BRCA1/2 variants. These findings suggest that genomic screening may identify BRCA1/2-associated cancer risk that might otherwise remain undetected within health care systems and may provide opportunities to reduce morbidity and mortality in patients.