Classifying Melanoma by TERT Promoter Mutational Status.

ABSTRACT: Although TERT promoter mutations have been associated with a worsened prognosis in melanoma, the relationship between mutation status and downstream telomerase activity and telomere length remains convoluted. Using Sanger sequencing and techniques based on quantitative reverse transcriptase in real time, we evaluated 60 melanoma cell lines for TERT promoter mutational status, copy number, gene expression, and telomere length to provide a comprehensive analysis of the TERT/telomere pathway and establish a classification system whereby the associations between TERT mutations and their downstream molecular manifestations can more easily be ascertained. Mutations at positions -124/125 and -146 were associated with the highest levels of TERT gene expression but had no appreciable impact on abso

SUBMITTER: Shaughnessy M 

PROVIDER: S-EPMC6983338 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature