Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.

ABSTRACT:

Importance

The protection of telomeres 1 protein (POT1) is a critical component of the shelterin complex, a multiple-protein machine that regulates telomere length and protects telomere ends. Germline variants in POT1 have been linked to familial melanoma, and somatic mutations are associated with a range of cancers including cutaneous T-cell lymphoma (CTCL).

Objective

To characterize pathogenic variation in POT1 in families with melanoma to inform clinical management.

Design, setting, and participants

In this case study and pedigree evaluation, analysis of the pedigree of 1 patient with melanoma revealed a novel germline POT1 variant (p.I78T, c.233T>C, chromosome 7, g.124870933A>G, GRCh38) that was subsequently found in 2 other pedigrees obtained from the GenoMEL Con

SUBMITTER: Wong K 

PROVIDER: S-EPMC6506889 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature