Article
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Journal of medical genetics - 1 Apr 2013
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 Ruta, Tucker Margaret A, Bressac-de Paillerets Brigitte, Newton-Bishop Julia A, Goldstein Alisa M, Akslen Lars A, Molven Anders
Abstract excerpt
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 with CDK4 germline mutations (n=17) were recruited for the study by contacting the authors of published papers or by...
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