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Molecular epidemiology of melanoma

Bauer, J.

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doi: 10.1097/01.cmr.0000382758.93495.d6
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A number of large epidemiologic studies could clearly show a correlation between UV exposure and development of benign melanocytic nevi and melanoma. However, on a molecular level this correlation is not clear. About 60 to 80% of melanocytic tumors harbor a BRAF V600E mutation, caused most frequently by a non-UV signature T to A transversion. Moreover, melanomas from skin with the highest cumulative UV damage show a significantly lower frequency of BRAF mutations than melanomas from intermittently sun exposed skin. Here we present melanocortin receptor 1 (MC1R) germline variants as a susceptibility factor specifically for BRAF mutated melanoma. This provides a paradigm of molecular epidemiology: susceptibility genes may only affect certain molecular subtypes of cancer. Moreover effects of UV exposure patterns and body site on BRAF mutation frequencies will be discussed. A better understanding of the correlation between UV-exposure and BRAF mutations is required to understand the pathways of melanoma development.

© 2010 Lippincott Williams & Wilkins, Inc.