BRAF as a melanoma susceptibility candidate gene?

Karine Laud, Caroline Kannengiesser, Marie Francoise Avril, Agnès Chompret, Dominique Stoppa-Lyonnet, Laurence Desjardins, Alain Eychene, Florence Demenais, P. Andry-Benzaquen, M. Baccard, B. Bachollet, N. Basset-Seguin, M. Baspeyras, P. Berthet, J. M. Bonnetblanc, P. Blanchet, F. Boitier, V. Bonadona, F. Caux, J. P. CesariniJ. Chevrant-Breton, D. Couillet, A. M. Courouge-Dorcier, L. Demange, C. Levy, O. Dereure, M. D'Incan, M. Dore, E. Esteve, M. Frenay, V. Gaillard, I. Gorin, F. Grange, B. Guillot, P. Joly, L. Laroche, C. Lasset, D. Leroux, J. M. Limacher, M. Longy, L. Lumbroso, J. L. Michel, S. Negrier, L. Ollivaud, J. C. Ortoli, P. Robin, B. Sassolas, R. Triller, F. Truchetet, P. Vabres, L. Verne, Gilbert M. Lenoir, Brigitte Bressac-de Paillerets

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    Résumé

    A high frequency of activating BRAF somatic mutations have been identified recently in malignant melanoma and nevi indicating that BRAF activation could be an early and critical step in the initiation of melanocytic neoplasia. To determine whether BRAF mutations could be an earlier event occurring at the germline level, we screened the entire BRAF coding region for germline mutations in 80 independent melanoma-prone families or patients with multiple primary melanoma without a familial history. We identified 13 BRAF variants, 4 of which were silent mutations in coding regions and 9 nucleotide substitutions in introns. None of these BRAF variants segregated with melanoma in the 11 melanoma families studied. Moreover, there was no significant difference in the frequency of heterozygotes for BRAF variants between melanoma cases and controls when they were compared. Our data suggest that BRAF is unlikely to be a melanoma susceptibility gene.

    langue originaleAnglais
    Pages (de - à)3061-3065
    Nombre de pages5
    journalCancer Research
    Volume63
    Numéro de publication12
    étatPublié - 15 juin 2003

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