POT1 loss-of-function variants predispose to familial melanoma

Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases(1), while rare variants in CDK4, BRCA2, BAP1, and the promoter of TERT, have also been linked to the disease(2-5). Here we set out to identify novel high-penetrance susceptibility genes in unexplained cases by...

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Detalles Bibliográficos
Autores principales: Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J., Aoude, Lauren G., Quesada, Víctor, Ding, Zhihao, Pooley, Karen A., Pritchard, Antonia L., Tiffen, Jessamy C., Petljak, Mia, Palmer, Jane M., Symmons, Judith, Johansson, Peter, Stark, Mitchell S., Gartside, Michael G., Snowden, Helen, Montgomery, Grant W., Martin, Nicholas G., Liu, Jimmy Z., Choi, Jiyeon, Makowski, Matthew, Brown, Kevin M., Dunning, Alison M., Keane, Thomas M., López-Otín, Carlos, Gruis, Nelleke A., Hayward, Nicholas K., Bishop, D. Timothy, Newton-Bishop, Julia A., Adams, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266105/
https://www.ncbi.nlm.nih.gov/pubmed/24686849
http://dx.doi.org/10.1038/ng.2947

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