| BRAF as a melanoma susceptibility candidate gene? | |
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MedLine Citation:
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PMID: 12810628 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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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:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Cancer research Volume: 63 ISSN: 0008-5472 ISO Abbreviation: Cancer Res. Publication Date: 2003 Jun |
Date Detail:
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Created Date: 2003-06-17 Completed Date: 2003-07-28 Revised Date: 2012-06-21 |
Medline Journal Info:
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Nlm Unique ID: 2984705R Medline TA: Cancer Res Country: United States |
Other Details:
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Languages: eng Pagination: 3061-5 Citation Subset: IM |
Affiliation:
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Service de Génétique, Institut Gustave Roussy, 94800 Villejuif, Cedex, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Segregation DNA Mutational Analysis DNA, Neoplasm / genetics Family Gene Frequency Genetic Predisposition to Disease Genotype Germ-Line Mutation Humans 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* |
| Chemical | |
Reg. No./Substance:
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0/DNA, Neoplasm; 0/Neoplasm Proteins; EC 2.7.11.1/BRAF protein, human; EC 2.7.11.1/Proto-Oncogene Proteins B-raf; EC 2.7.11.1/Proto-Oncogene Proteins c-raf |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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