F Lesueur, M de Lichy, M Barrois, G Durand, J Bombled, M-F Avril, A Chompret, F Boitier, G M Lenoir, B Bressac-de Paillerets, Monique Baccard, Bertrand Bachollet, Pascaline Berthet, Valérie Bonadona, Jean-Marie Bonnetblanc, Olivier Caron, Jacqueline Chevrant-Breton, Jean-François Cuny, Stéphane Dalle, Michèle Delaunay, Liliane Demange, Julie De Quatrebarbes, Jean-François Doré, Marc Frénay, Jean-Pierre Fricker, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Philippe Gorry, Florent Grange, Andrew Green, Laetitia Huiart, Nicolas Janin, Pascal Joly, Delphine Kérob, Christine Lasset, Dominique Leroux, Jean-Marc Limacher, Michel Longy, Sandrine Mansard, Karine Marrou, Tanguy Martin-Denavit, Christine Mateus, Eve Maubec, Laurence Olivier-Faivre, Vincent Orlandini, Pascal Pujol, Bruno Sassolas, Dominique Stoppa-Lyonnet, Luc Thomas, Pierre Vabres, Laurence Venat, Ewa Wierzbicka, Hélène Zattara
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 predisposing gene, there remains a significant proportion of melanoma kindreds linked to 9p21 in which germline mutations of CDKN2A have not been identified through direct exon sequencing...
July 22, 2008: British Journal of Cancer