Document Detail

BRAF as a melanoma susceptibility candidate gene?
MedLine Citation:
PMID:  12810628     Owner:  NLM     Status:  MEDLINE    
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.
Karine Laud; Caroline Kannengiesser; Marie-Francoise Avril; Agnès Chompret; Dominique Stoppa-Lyonnet; Laurence Desjardins; Alain Eychene; Florence Demenais; Gilbert M Lenoir; Brigitte Bressac-de Paillerets;
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Cancer research     Volume:  63     ISSN:  0008-5472     ISO Abbreviation:  Cancer Res.     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-17     Completed Date:  2003-07-28     Revised Date:  2012-06-21    
Medline Journal Info:
Nlm Unique ID:  2984705R     Medline TA:  Cancer Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3061-5     Citation Subset:  IM    
Service de Génétique, Institut Gustave Roussy, 94800 Villejuif, Cedex, France.
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MeSH Terms
Chromosome Segregation
DNA Mutational Analysis
DNA, Neoplasm / genetics
Gene Frequency
Genetic Predisposition to Disease
Germ-Line Mutation
Introns / genetics
Melanoma / genetics*
Neoplasm Proteins / genetics
Neoplasms, Multiple Primary / genetics
Neoplasms, Nerve Tissue / genetics
Neoplastic Syndromes, Hereditary / genetics
Nevus, Pigmented / genetics
Point Mutation
Proto-Oncogene Proteins B-raf
Proto-Oncogene Proteins c-raf / genetics,  physiology*
Skin Neoplasms / genetics*
Reg. No./Substance:
0/DNA, Neoplasm; 0/Neoplasm Proteins; EC protein, human; EC Proteins B-raf; EC Proteins c-raf

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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