POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.

ABSTRACT:

Background

Germline mutations in telomere-related genes such as POT1 and TERT predispose individuals to familial melanoma.

Objectives

To evaluate the prevalence of germline mutations in POT1 and TERT in a large cohort of Spanish melanoma-prone families (at least two affected first- or second-degree relatives).

Methods

Overall, 228 CDKN2A wild-type melanoma-prone families were included in the study. Screening of POT1 was performed in one affected person from each family and TERT was sequenced in one affected patient from 202 families (26 families were excluded owing to DNA exhaustion/degradation). TERT promoter sequencing was extended to an additional 30 families with CDKN2A mutation and 70 patients with sporadic multiple primary melanoma (MPM) with a family history of

SUBMITTER: Potrony M 

PROVIDER: S-EPMC6526091 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature