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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Publicado en:Nat Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: 2014
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4266105/
https://ncbi.nlm.nih.gov/pubmed/24686849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2947
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