Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines

Key Points Question What is the prevalence of germline findings in cancers lacking hereditary testing guidelines? Findings In this cross-sectional study including records from 34 642 patients, approximately 7% of patients with cancer harbored pathogenic or likely pathogenic germline variants. The prevalence of pathogenic or likely pathogenic germline findings was highest in bladder and lung cancers. Meaning The findings of this study suggest that paired tumor/normal sequencing has the potential added benefit of identifying germline findings, especially in cancer types, such as bladder and lung, in which germline testing may not be indicated without a suspicious family history of cancer.