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

ConclusionsOverall, 1 ·75% of ourCDKN2A/CDK4‐wild type Spanish melanoma‐prone families carry probably damaging mutations inPOT1. The frequency ofTERT promoter germline mutations in melanoma families in our population is extremely rare.This article is protected by copyright. All rights reserved.

Source: British Journal of Dermatology - November 19, 2018 Category: Dermatology Authors: M. Potrony, J.A. Puig ‐Butille, M. Ribera‐Sola, V. Iyer, C.D. Robles‐Espinoza, P. Aguilera, C. Carrera, J. Malvehy, C. Badenas, M.T. Landi, D.J. Adams, S. Puig Tags: Original Article Source Type: research