MC1R germline variants confer risk for BRAF-mutant melanoma.


Germline variants in MC1R, the gene encoding the melanocortin-1 receptor, and sun exposure increase risk for melanoma in Caucasians. The majority of melanomas that occur on skin with little evidence of chronic sun-induced damage (non-CSD melanoma) have mutations in the BRAF oncogene, whereas in melanomas on skin with marked CSD (CSD melanoma) these mutations are less frequent. In two independent Caucasian populations, we show that MC1R variants are strongly associated with BRAF mutations in non-CSD melanomas. In this tumor subtype, the risk for melanoma associated with MC1R is due to an increase in risk of developing melanomas with BRAF mutations.

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@article{Landi2006MC1RGV, title={MC1R germline variants confer risk for BRAF-mutant melanoma.}, author={Maria Teresa Landi and J{\"{u}rgen Bauer and Ruth M. Pfeiffer and David E. Elder and Benjamin Hulley and Paola Minghetti and Donato Calista and Peter A. Kanetsky and Dan Pinkel and Boris C Bastian}, journal={Science}, year={2006}, volume={313 5786}, pages={521-2} }