Journal
SCIENCE
Volume 313, Issue 5786, Pages 521-522Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1127515
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Funding
- NCI NIH HHS [K07 CA80700, R01 CA5558, R33 CA95300, P01 CA025874-25-A1, R01 CA94963] Funding Source: Medline
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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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