Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

BACKGROUND: CDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma. Melanoma families with CDKN2A germline mutations have been extensively characterised, whereas CDK4 families are rare and lack a systematic investigation of their phenotype. METHODS: All known families wi...

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Autori principali: Puntervoll, Hanne Eknes, Yang, Xiaohong R, Vetti, Hildegunn Høberg, Bachmann, Ingeborg M, Avril, Marie Françoise, Benfodda, Meriem, Catricalà, Caterina, Dalle, Stéphane, Duval-Modeste, Anne B, Ghiorzo, Paola, Grammatico, Paola, Harland, Mark, Hayward, Nicholas K, Hu, Hui-Han, Jouary, Thomas, Martin-Denavit, Tanguy, Ozola, Aija, Palmer, Jane M, Pastorino, Lorenza, Pjanova, Dace, Soufir, Nadem, Steine, Solrun J, Stratigos, Alexander J, Thomas, Luc, Tinat, Julie, Tsao, Hensin, Veinalde, Rūta, Tucker, Margaret A, Bressac-de Paillerets, Brigitte, Newton-Bishop, Julia A, Goldstein, Alisa M, Akslen, Lars A, Molven, Anders
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2013
Soggetti:
Cancer Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3607098/
https://ncbi.nlm.nih.gov/pubmed/23384855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101455
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