Cancer risk and survival outcomes in germline POT1 variant carriers

Germline POT1 pathogenic/likely pathogenic variant carriers show a moderate increase in cancer diagnosis frequency versus non-carriers, with odds ratios up to 3.41 in Penn Medicine Biobank.

• Why it matters: The prevalence, tumor spectrum, cancer risk, and survival impact of germline POT1 variants are not well defined, leaving uncertainty in clinical management guidance.
• What they did: The study analyzed POT1 variant carriers across PMBB (n=51,172), MyCode (n=220,582), UKBB (n=469,558), plus a Penn Medicine clinical cohort, estimating prevalence and cancer risk for pathogenic/likely pathogenic and additional functionally assessed variants.
• The result: Cancer incidence rose starting in the mid-30s with no evidence of increased mortality, and lung cancer was linked to POT1 carriers in two biobank cohorts.

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