MC1R germline variants confer risk for BRAF-mutant melanoma.
MC1R germline variants confer risk for BRAF-mutant melanoma.
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DOI：
10.1097/00008390-200609001-00041
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发表时间：
2006-09
期刊：
影响因子：
56.9
通讯作者：
M. Landi;J. Bauer;R. Pfeiffer;D. Elder;Ben Hulley;P. Minghetti;D. Calista;P. Kanetsky;D. Pinkel-D.-Pink
中科院分区：
文献类型：
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作者：
M. Landi;J. Bauer;R. Pfeiffer;D. Elder;Ben Hulley;P. Minghetti;D. Calista;P. Kanetsky;D. Pinkel-D.-Pink
MC 1 R（编码黑皮质素-1受体的基因）的种系变异和阳光照射增加了白种人患黑色素瘤的风险。大多数发生在皮肤上的黑色素瘤几乎没有慢性阳光诱导损伤的证据（非CSD黑色素瘤），BRAF癌基因突变，而在皮肤上的黑色素瘤与显着的CSD（CSD黑色素瘤），这些突变不太常见。在两个独立的高加索人群中，我们发现MC 1 R变异与非CSD黑色素瘤中的BRAF突变密切相关。在这种肿瘤亚型中，与MC 1 R相关的黑色素瘤风险是由于发生BRAF突变的黑色素瘤风险增加。
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.