Article
Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.
Nature communications - 26 Feb 2014
Heidenreich Barbara, Nagore Eduardo, Rachakonda P Sivaramakrishna, Garcia-Casado Zaida, Requena Celia, Traves Victor, Becker Jürgen, Soufir Nadem, Hemminki Kari, Kumar Rajiv
Abstract excerpt
We previously reported a disease segregating causal germline mutation in a melanoma family and recurrent somatic mutations in metastasized tumours from unrelated patients in the core promoter region of the telomerase reverse transcriptase (TERT) gene. Here we show that the TERT promoter mutations, besides causing an increased gene expression, associate with increased patient age, increased Breslow thickness and...
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