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

How is a POT1-related condition inherited?+

Autosomal dominant

What is the clinical spectrum associated with POT1?+

Melanoma, glioma, angiosarcoma, chronic lymphocytic leukaemia

What is the management associated with POT1?+

Dermatological surveillance; management based on the familial spectrum.

How many Geno'X publications cover the POT1 gene?+

1 publication(s) on POT1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Cancer genetics).