Publication Date:
2006-07-01
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Landi, Maria Teresa -- Bauer, Jurgen -- Pfeiffer, Ruth M -- Elder, David E -- Hulley, Benjamin -- Minghetti, Paola -- Calista, Donato -- Kanetsky, Peter A -- Pinkel, Daniel -- Bastian, Boris C -- K07 CA80700/CA/NCI NIH HHS/ -- P01 CA025874-25-A1/CA/NCI NIH HHS/ -- R01 CA5558/CA/NCI NIH HHS/ -- R01 CA94963/CA/NCI NIH HHS/ -- R33 CA95300/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 2006 Jul 28;313(5786):521-2. Epub 2006 Jun 29.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. landim@mail.nih.gov〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16809487" target="_blank"〉PubMed〈/a〉
Keywords:
Adolescent
;
Adult
;
Aged
;
Alleles
;
Case-Control Studies
;
Female
;
Genetic Predisposition to Disease
;
Genetic Variation
;
*Germ-Line Mutation
;
Humans
;
Italy
;
Male
;
Melanoma/classification/*genetics/pathology
;
Middle Aged
;
Mutation
;
Odds Ratio
;
Proto-Oncogene Proteins B-raf/*genetics
;
Receptor, Melanocortin, Type 1/*genetics
;
Skin/pathology/*radiation effects
;
Skin Neoplasms/classification/*genetics/pathology
;
Sunlight/*adverse effects
;
United States
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
