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J Invest Dermatol. 2012 Jul;132(7):1763-74. doi: 10.1038/jid.2012.75. Epub 2012 Apr 5.

Melanoma genetics: recent findings take us beyond well-traveled pathways.

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Queensland Institute of Medical Research, Brisbane, Queensland, Australia.


Genetic linkage and candidate gene studies have identified a number of genes involved in melanoma susceptibility, such as MC1R and CDKN2A, via the endophenotypes of pigmentation and nevus proliferation. A series of genome-wide association studies (GWASs) in 2008 and 2009 showed that a handful of additional genes (e.g., ASIP, TYR, and PLA2G6) influencing these endophenotypes also affected melanoma risk. The most recent wave of melanoma GWASs has uncovered genes functioning independently of the known melanoma-associated phenotypes, highlighting the role of processes such as DNA repair and cell cycle control. We take this opportunity to summarize these new and exciting findings and integrate them into the current framework of our understanding of melanoma genetics.

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