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TERT Promoter Mutations in Cancer

Franklin Huang, MD, PhD Systematic genomic sequencing studies of human cancers have identified many mutations in coding regions of the genome. We sought to examine whether recurrent mutations occurred in the noncoding region of hegenome, using whole-genome sequencing data from human melanomas. We found that 71% of melanomas contained either one of two independent mutations in the promoter of the TERT gene. Each of these mutations created identical consensus ETS transcription factor binding sites. Cancer cell lines and other cancer types also contain these TERT promoter mutations at high frequency. These data suggest that TERT promoter mutations and noncoding mutations in general may be common oncogenic events in human cancer.