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      Highly recurrent TERT promoter mutations in human melanoma.

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          Abstract

          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 generate de novo consensus binding motifs for E-twenty-six (ETS) transcription factors, and in reporter assays, the mutations increased transcriptional activity from the TERT promoter by two- to fourfold. Examination of 150 cancer cell lines derived from diverse tumor types revealed the same mutations in 24 cases (16%), with preliminary evidence of elevated frequency in bladder and hepatocellular cancer cells. Thus, somatic mutations in regulatory regions of the genome may represent an important tumorigenic mechanism.

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          Chromosomal imbalances in primary and metastatic melanomas

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            Author and article information

            Journal
            Science
            Science (New York, N.Y.)
            American Association for the Advancement of Science (AAAS)
            1095-9203
            0036-8075
            Feb 22 2013
            : 339
            : 6122
            Affiliations
            [1 ] Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
            Article
            science.1229259 NIHMS680278
            10.1126/science.1229259
            4423787
            23348506

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