Developments in melanoma genetics

21 October 2009

The Melanoma Genetics Consortium (GenoMEL), an international network coordinated by the University of Leeds' Cancer Research UK Centre, brings together researchers investigating the genetics of familial melanoma.

Melanoma is a form of malignant tumour arising from melanocyte cells, which are primarily found in the skin. The lifetime risk of developing malignant melanoma is around 1 in 91 for men and 1 in 77 for women in the UK (CancerHelp UK), although in Australia, where fair-skinned Caucasian populations are exposed to much higher levels of sunlight, it is much higher at 29.2 (Melanoma Patients Australia). Incidence is also rising in Europe and the US.

Although environmental factors play a key role in melanoma risk, genetic influences are also important. The GenoMEL consortium works to identify genetic susceptibility factors for melanoma, look at gene-environment interactions, determine what genetic variants mean in terms of individual risk of melanoma and develop materials for patients and health care professionals aimed at assessing and reducing risk.

Now the GenoMEL programme is set to expand to develop translational melanoma genetics research in Europe, with new partners in Eastern Europe, Australia, the US, and Israel (see GenomeWeb news article), and to widen gene-environment research to look at the effects of genetic factors and sun exposure in different latitudes. The link between family history and melanoma appears to differ significantly between countries (for example, ranging from 1% in a UK study to 11% in an Australian one, according to the GenoMEL website), which may be the result of gene-environment interactions. 

Meanwhile, preliminary results from a very small clinical trial have indicated that a new drug may offer promise as a treatment for some melanomas. The PLX4302 drug, which targets melanoma cells with mutations in the BRAF gene, reportedly reduced tumour size in more than half of the 22 patients (see Australian news article). Larger trials are expected to follow.

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