POT1
HGNC ↗2 article(s) in the watch · Cancer genetics
POT1 encodes a shelterin-complex component that protects telomeres. Pathogenic variants predispose to several tumours.
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
Telomere length of both parents contributes to heritable POT1 cancer-predisposition syndrome.
POT1 cancer-predisposition syndrome
Frequently asked questions
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?+
2 publication(s) on POT1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Cancer genetics).