Polymorphisms of the BRAF gene predispose males to malignant melanoma

Peter Meyer¹^,2^,3 , Consolato Sergi⁴ and Claus Garbe¹

¹Department of Dermatology, University Hospital of Tuebingen, Tuebingen, Germany

²Institute of Human Genetics, University Hospital of Tuebingen, Tuebingen, Germany

³Genefinder Technologies Ltd., Munich, Germany

⁴Directorate of Laboratory Medicine, Bristol Royal Infirmary, Bristol, United Kingdom

author email corresponding author email

Journal of Carcinogenesis 2003, 2:7doi:10.1186/1477-3163-2-7


Published:	14 November 2003

Abstract

The incidence of malignant melanoma has rapidly increased in recent years. Evidence points to the role of inheritance in melanoma development, but specific genetic risk factors are not well understood. Recent reports indicate a high prevalence of somatic mutations of the BRAF gene in melanomas and melanocytic nevi. Here we report that germ-line single nucleotide polymorphisms (SNPs) in BRAF are significantly associated with melanoma in German males, but not females. At-risk haplotypes of BRAF are shown. Based upon their frequencies, we estimate that BRAF could account for a proportion attributable risk of developing melanoma of 4% in the German population. 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 less than 1%.