Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.

ABSTRACT: The Protection of Telomere 1 (POT1) gene was identified as a melanoma predisposition candidate nearly 10 years ago. Thereafter, various cancers have been proposed as associated with germline POT1 variants in the context of the so-called POT1 Predisposition Tumor Syndrome (POT1-TPD). While the key role, and related risks, of the alterations in POT1 in melanoma are established, the correlation between germline POT1 variants and the susceptibility to other cancers partially lacks evidence, due also to the rarity of POT1-TPD. Issues range from the absence of functional or segregation studies to biased datasets or the need for a revised classification of variants. Furthermore, a proposal of a surveillance protocol related to the cancers associated with POT1

SUBMITTER: Andreotti V 

PROVIDER: S-EPMC10815363 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature