Article
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.
British journal of cancer - 22 Jul 2008
Lesueur F, de Lichy M, Barrois M, Durand G, Bombled J, Avril M-F, Chompret A, Boitier F, Lenoir G M, Bressac-de Paillerets B, Baccard Monique, Bachollet Bertrand, Berthet Pascaline, Bonadona Valérie, Bonnetblanc Jean-Marie, Caron Olivier, Chevrant-Breton Jacqueline, Cuny Jean-François, Dalle Stéphane, Delaunay Michèle, Demange Liliane, De Quatrebarbes Julie, Doré Jean-François, Frénay Marc, Fricker Jean-Pierre, Gauthier-Villars Marion, Gesta Paul, Giraud Sophie, Gorry Philippe, Grange Florent, Green Andrew, Huiart Laetitia, Janin Nicolas, Joly Pascal, Kérob Delphine, Lasset Christine, Leroux Dominique, Limacher Jean-Marc, Longy Michel, Mansard Sandrine, Marrou Karine, Martin-Denavit Tanguy, Mateus Christine, Maubec Eve, Olivier-Faivre Laurence, Orlandini Vincent, Pujol Pascal, Sassolas Bruno, Stoppa-Lyonnet Dominique, Thomas Luc, Vabres Pierre, Venat Laurence, Wierzbicka Ewa, Zattara Hélène
Abstract excerpt
Mutations in two genes encoding cell cycle regulatory proteins have been shown to cause familial cutaneous malignant melanoma (CMM). About 20% of melanoma-prone families bear a point mutation in the CDKN2A locus at 9p21, which encodes two unrelated proteins, p16(INK4a) and p14(ARF). Rare mutations in CDK4 have also been linked to the disease. Although the CDKN2A gene has been shown to be the major melanoma...
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