Potential advantage of clinical exome sequencing in <i>BRCA1/2</i> -negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers

Abstract excerpt

Background Hereditary cancer syndromes (HCSs) account for approximately 5–10% of all cancers and are frequently associated with pathogenic variants (PVs) in genes such as BRCA1 and BRCA2 . Nevertheless, a substantial proportion of individuals with strong familial cancer aggregation remain genetically unexplained after standard multigene panel testing. Clinical exome sequencing (CES) may overcome this limitation...

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