Cancer risk and survival outcomes in germline POT1 variant carriers

Background: The prevalence of germline POT1 variants, spectrum of associated tumors, cancer risk and survival outcomes are incompletely described, and clinical management guidelines vary. We evaluated POT1 variant carriers in three biobanks and a clinical cohort to address these limitations. Methods: Prevalence, cancer spectrum and risk associated with germline POT1 pathogenic/likely pathogenic and additional functionally assessed variants were evaluated in Penn Medicine Biobank (PMBB; n=51,172), Geisinger MyCode (MyCode; n=220,582), UK Biobank (UKBB; n=469,558) and a Penn Medicine clinical co

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