Article
Highly recurrent TERT promoter mutations in human melanoma.
Science (New York, N.Y.) - 22 Feb 2013
Huang Franklin W, Hodis Eran, Xu Mary Jue, Kryukov Gregory V, Chin Lynda, Garraway Levi A
Abstract excerpt
Systematic sequencing of human cancer genomes has identified many recurrent mutations in the protein-coding regions of genes but rarely in gene regulatory regions. Here, we describe two independent mutations within the core promoter of telomerase reverse transcriptase (TERT), the gene coding for the catalytic subunit of telomerase, which collectively occur in 50 of 70 (71%) melanomas examined. These mutations...
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