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[Cancer Research 63, 3061-3065, June 15, 2003]
© 2003 American Association for Cancer Research

Advances in Brief

BRAF as a Melanoma Susceptibility Candidate Gene?1

Karine Laud, Caroline Kannengiesser, Marie-Francoise Avril, Agnès Chompret, Dominique Stoppa-Lyonnet, Laurence Desjardins, Alain Eychene, Florence Demenais, French Hereditary Melanoma Study Group2, Gilbert M. Lenoir and Brigitte Bressac-de Paillerets3

Service de Génétique [K. L., C. K., G. M. L., B. B-d. P.], Service de Dermatologie [M-F. A.], and Département de Médecine [A. S.], Institut Gustave Roussy, 94800 Villejuif, Cedex; Service de Génétique Oncologique [D. S-L.] and Service d’Ophtalmologie [L. D.], Institut Curie, 75248 Paris Cedex 5; Institut Curie, Centre National de la Recherche Scientifique, Cedex [A. E.]; and Unité Inserm, 91034 Evry Cedex [F. D.], France

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.




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HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
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Copyright © 2003 by the American Association for Cancer Research.