Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer‐Specific Polygenic Scores

Abstract excerpt

ABSTRACT Introduction BRCA2 is a causal gene for hereditary breast and ovarian cancer (HBOC) syndrome. However, its association with other cancers and interplay with polygenic scores (PGS) remains unclear. Methods An observational cohort study for the diagnosis of various cancers in the UK Biobank (UKB, N = 453,541) were recruited at ages of 40–69 years Association of germline pathogenic variants (PVs) in BRCA2...

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