CDKN2AMutations in Multiple Primary Melanomas
作者： Jose Monzon , Ling Liu , Herbert Brill , Alisa M. Goldstein , Margaret A. Tucker
DOI: 10.1056/NEJM199803263381305
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摘要: Background Germ-line mutations in the CDKN2A tumor-suppressor gene (also known as p16, p16 INK 4a, and MTS1) have been linked to development of melanoma some families with inherited melanoma. Whether confer a predisposition sporadic (nonfamilial) is not known. In patients melanoma, one or more additional primary lesions develop, suggesting that these an underlying genetic susceptibility cancer. We hypothesized this might be due germ-line mutations. Methods used polymerase chain reaction, single-strand conformation polymorphism analysis, direct DNA sequencing identify multiple melanomas who did family histories disease. A quantitative yeast two-hybrid assay was evaluate functional importance variants. Results Of 33 melanomas, 5 (15 percent; 95...
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