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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. MC1R germline variants confer risk for BRAF-mutant melanoma. Landi, M.T., Bauer, J., Pfeiffer, R.M., Elder, D.E., Hulley, B., Minghetti, P., Calista, D., Kanetsky, P.A., Pinkel, D., Bastian, B.C. Science (2006) [Pubmed]
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