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MC1R Germline Variants Confer Risk for BRAF-Mutant Melanoma
Maria Teresa Landi,1*Jürgen Bauer,2,3*Ruth M. Pfeiffer,1David E. Elder,4Benjamin Hulley,1Paola Minghetti,5Donato Calista,5Peter A. Kanetsky,7Daniel Pinkel,6Boris C. Bastian2
Germline variants in MC1R, the gene encoding the melanocortin-1receptor, and sun exposure increase risk for melanoma in Caucasians.The majority of melanomas that occur on skin with little evidenceof chronic sun-induced damage (non-CSD melanoma) have mutationsin the BRAF oncogene, whereas in melanomas on skin with markedCSD (CSD melanoma) these mutations are less frequent. In twoindependent Caucasian populations, we show that MC1R variantsare strongly associated with BRAF mutations in non-CSD melanomas.In this tumor subtype, the risk for melanoma associated withMC1R is due to an increase in risk of developing melanomas withBRAF mutations.
1 Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. 2 Departments of Dermatology and Pathology and Comprehensive Cancer Center, University of California, San Francisco, CA 94143, USA. 3 Department of Dermatology, Eberhard Karls University, 72076 Tübingen, Germany. 4 Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. 5 Department of Dermatology, M. Bufalini Hospital, Cesena, 47023, Italy. 6 Department of Laboratory Medicine, University of California, San Francisco, CA 94143, USA. 7 Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
* These authors contributed equally to this work.
To whom correspondence should be addressed. E-mail: landim{at}mail.nih.gov
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