Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France

Nadem Soufir, Marie Françoise Avril, Agnès Chompret, Florence Demanais, Johny Bombled, Alain Spatz, Dominique Stoppa-Lyonnet, Jean Bénard, Brigitte Bressac-de Paillerets, Bertrand Bachollet, Françoise Boitier, Jean Pierre Césarini, Jacqueline Chevrant-Breton, Didier Couillet, Anne Marie Courouge-Dorcier, Gérard Desailloud, Arielle Dolfus, Claudine Garnier-Fournier, Pascal Joly, Monique Krug-MilonKarine Lantier, Patrick Moureaux, Silvia Moretti, Jean Christophe Ortoli, Bruno Sassolas, François Truchetet

    Résultats de recherche: Contribution à un journalArticleRevue par des pairs

    361 Citations (Scopus)

    Résumé

    Germline mutations in the p16 and CDK4 genes have been reported in a subset of melanoma pedigrees, but their prevalence is not well known. We searched for such germline mutations in 48 French melanoma-prone families selected according to two major criteria: families with at least three affected members (n = 20) or families with two affected members, one of them affected before the age of 50 (n = 28), and one additional minor criterion. Sixteen different p16 germline mutations were found in 21 families, while one germline mutation, Arg24His, was detected in the CDK4 gene. The frequency of p16 gene mutation in our sample (44%) is among the highest rates yet reported and the CDK4 mutation is the second mutation detected in this gene worldwide. In summary, our results show frequent involvement of the p16 gene in familial melanoma and confirm the role of the CDK4 gene as a melanoma-predisposing gene.

    langue originaleAnglais
    Pages (de - à)209-216
    Nombre de pages8
    journalHuman Molecular Genetics
    Volume7
    Numéro de publication2
    Les DOIs
    étatPublié - 1 févr. 1998

    Contient cette citation