BRAF Polymorphisms and Risk of Melanocytic Neoplasia
| Autor: | Nicholas G. Martin, Richard B. Roth, Troy Dumenil, Stefan Kammerer, Grant W. Montgomery, Mitchell S. Stark, Nicholas K. Hayward, David L. Duffy, Andreas Braun, Michael M. Shi, Matthew R. Nelson, Michael R. James |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Male
Proto-Oncogene Proteins B-raf Risk Skin Neoplasms Single-nucleotide polymorphism Dermatology Biology Polymorphism Single Nucleotide Biochemistry BRAF 03 medical and health sciences single nucleotide polymorphisms 0302 clinical medicine Gene Frequency CDKN2A Diseases in Twins medicine Genetic predisposition melanoma Humans SNP Nevus skin and connective tissue diseases Genotyping neoplasms Molecular Biology 030304 developmental biology Sex Characteristics 0303 health sciences Polymorphism Genetic Genes p16 Melanoma Exons Cell Biology medicine.disease Introns 030220 oncology & carcinogenesis Attributable risk Cancer research Melanocytes Female genetic predisposition |
| Zdroj: | Journal of Investigative Dermatology. 125(6):1252-1258 |
| ISSN: | 0022-202X |
| DOI: | 10.1111/j.0022-202x.2005.23937.x |
| Popis: | Somatic mutations of the BRAF gene are common in melanomas and nevi but the contribution of polymorphisms in this gene to melanoma or nevus susceptibility remains unclear. An Australian melanoma case-control sample was typed for 16 single nucleotide polymorphisms (SNP) within the BRAF gene, and five SNP in three neighboring genes. The sample comprised 755 melanoma cases from 740 families stratified by family history of melanoma and controls from 635 unselected twin families (2,239 individuals). Ancestry of the cases and controls was recorded, and the twins had undergone skin examination to assess total body nevus count, degree of freckling, and pigmentation phenotype. Genotyping was carried out via primer extension followed by matrix-assisted laser desorption ionization-time of flight mass spectrometry. SNP in the BRAF gene were found to be weakly associated with melanoma status but not with development of nevi or freckles. The estimated proportion of attributable risk of melanoma due to variants in BRAF is 1.6%. This study shows that BRAF polymorphisms predispose to melanoma but the causal variant has yet to be determined. The burden of disease associated with this variant is greater than that associated with the major melanoma susceptibility locus CDKN2A, which has an estimated attributable risk of 0.2%. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|