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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Publicat a:Nat Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia: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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