Article
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Nature genetics - 1 May 2014
Shi Jianxin, Yang Xiaohong R, Ballew Bari, Rotunno Melissa, Calista Donato, Fargnoli Maria Concetta, Ghiorzo Paola, Bressac-de Paillerets Brigitte, Nagore Eduardo, Avril Marie Francoise, Caporaso Neil E, McMaster Mary L, Cullen Michael, Wang Zhaoming, Zhang Xijun, Bruno William, Pastorino Lorenza, Queirolo Paola, Banuls-Roca Jose, Garcia-Casado Zaida, Vaysse Amaury, Mohamdi Hamida, Riazalhosseini Yasser, Foglio Mario, Jouenne Fanélie, Hua Xing, Hyland Paula L, Yin Jinhu, Vallabhaneni Haritha, Chai Weihang, Minghetti Paola, Pellegrini Cristina, Ravichandran Sarangan, Eggermont Alexander, Lathrop Mark, Peris Ketty, Scarra Giovanna Bianchi, Landi Giorgio, Savage Sharon A, Sampson Joshua N, He Ji, Yeager Meredith, Goldin Lynn R, Demenais Florence, Chanock Stephen J, Tucker Margaret A, Goldstein Alisa M, Liu Yie, Landi Maria Teresa
Abstract excerpt
Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole-exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (chromosome 7, g.124493086C>T; p.Ser270Asn) in five unrelated melanoma-prone families from Romagna, Italy. Carriers of this variant...
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