POT1

1 article(s) in the watch · Cancer genetics

POT1 encodes a shelterin-complex component that protects telomeres. Pathogenic variants predispose to several tumours.

InheritanceAutosomal dominant

Clinical spectrumMelanoma, glioma, angiosarcoma, chronic lymphocytic leukaemia

ManagementDermatological surveillance; management based on the familial spectrum.

Curated publications

Telomere maintaining germline and somatic variants in thyroid cancer and melanoma

Hereditary cancer predisposition via long-telomere syndrome (POT1, TINF2, ACD) — non-medullary thyroid cancer and melanoma