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Tanya Grassi
Med J Aust 2009; 191 (5): 287.
Published online: 7 September 2009

Australian researchers have been involved in two recent genome-wide association studies, the results of which have identified genetic loci linked with the development of cutaneous naevi and malignant melanoma.1,2 In the study focusing on melanocytic naevi, strong associations were found between two genetic loci (MTAP and PLA2G6) and the number of melanocytic naevi in the individual.1MTAP is found adjacent to the familial melanoma susceptibility locus. Variants in both the MTAP and PLA2G6 loci were also associated with melanoma risk. The authors comment that understanding how these loci influence the development of naevi may lead to a better understanding of the development of malignant melanoma. In the other genome-wide study, three genetic loci have been found to be associated with a high melanoma risk.2 Two of the loci are closely linked to genes related to pigmentation, freckling and sun sensitivity. The researchers note that further work is required to determine if these associations function through melanoma-associated phenotypes, or if they have an independent association with melanoma risk.

  • Tanya Grassi


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