BRAF Polymorphisms and Risk of Melanocytic Neoplasia

James, Michael R., Roth, Richard B., Shi, Michael M., Kammerer, Stefan, Nelson, Matthew R., Stark, Mitchell S., Dumenil, Troy, Montgomery, Grant W., Hayward, Nicholas K., Martin, Nicholas G., Braun, Andreas and Duffy, David L. (2005) BRAF Polymorphisms and Risk of Melanocytic Neoplasia. Journal of Investigative Dermatology, 125 6: 1252-1258. doi:10.1111/j.0022-202X.2005.23937.x

Author James, Michael R.
Roth, Richard B.
Shi, Michael M.
Kammerer, Stefan
Nelson, Matthew R.
Stark, Mitchell S.
Dumenil, Troy
Montgomery, Grant W.
Hayward, Nicholas K.
Martin, Nicholas G.
Braun, Andreas
Duffy, David L.
Title BRAF Polymorphisms and Risk of Melanocytic Neoplasia
Journal name Journal of Investigative Dermatology   Check publisher's open access policy
ISSN 0022-202X
Publication date 2005-12
Sub-type Article (original research)
DOI 10.1111/j.0022-202X.2005.23937.x
Volume 125
Issue 6
Start page 1252
End page 1258
Total pages 7
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 111201 Cancer Cell Biology
111203 Cancer Genetics
Abstract 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 (2239 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%.
Keyword BRAF
genetic predisposition
single nucleotide polymorphisms
Q-Index Code C1
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
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Created: Tue, 24 Mar 2009, 09:41:43 EST by Ms Lynette Adams on behalf of Medicine - Royal Brisbane and Women's Hospital