Germline POT1 variants are associated with long telomeres and an unexpected broad spectrum of malignancies

Purpose: tumor predisposition syndrome and raise awareness of its broad tumor spectrum and association with ultralong telomeres. Methods: variants identified between 2018 and 2025. Clinical, pathologic, and demographic data were extracted from medical records. Telomere length was assessed using in-gel hybridization of telomeric restriction fragments. Results: heterozygotes with the p.(Ile78Thr) variant exhibited significantly longer telomeres than control participants, with a 62-year-old woman showing comparable or even longer telomeres than her children. Conclusion: into multigene panels and suggest telomere length as a potential biomarker for diagnosis.