18-Mar-2004

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Journal of
Carcinogenesis
Volume
2

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Meyer
P
Sergi
C
Garbe
C

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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

Journal of Carcinogenesis
2003, 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%.

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