Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

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 POT1 gene (g.7:124493086...

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Detalles Bibliográficos
Autores principales: Shi, Jianxin, Yang, Xiaohong R., Ballew, Bari, Rotunno, Melissa, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Paillerets, Brigitte Bressac-de, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4056593/
https://www.ncbi.nlm.nih.gov/pubmed/24686846
http://dx.doi.org/10.1038/ng.2941

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