MC1R Germline Variants Confer Risk for BRAF -Mutant Melanoma
Top Cited Papers
- 28 July 2006
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 313 (5786) , 521-522
- https://doi.org/10.1126/science.1127515
Abstract
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.Keywords
This publication has 16 references indexed in Scilit:
- Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melaninPigment Cell Research, 2006
- MC1R, ASIP, and DNA Repair in Sporadic and Familial Melanoma in a Mediterranean PopulationJNCI Journal of the National Cancer Institute, 2005
- An analysis of risk factors for cutaneous melanoma by anatomical site (Australia)Cancer Causes & Control, 2005
- MC1R and the response of melanocytes to ultraviolet radiationMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2005
- Quantitative Measures of the Effect of the Melanocortin 1 Receptor on Human Pigmentary Status11Presented in part at ESDR Geneva 2002, Naysmith L, Ha T, Waterston K, et al: Melanocortin 1 receptor accounts for 50% of variation in a Northern European dataset. J Invest Dermatol 119:758, 2002 (abstr).Journal of Investigative Dermatology, 2004
- Interactive effects of MC1R and OCA2 on melanoma risk phenotypesHuman Molecular Genetics, 2003
- Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair ColorJournal of Investigative Dermatology, 2001
- Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely by Pigmentation Phenotype?American Journal of Human Genetics, 2000
- The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanomaHuman Molecular Genetics, 1996
- Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNAFEBS Letters, 1992