Association of TERT promoter mutations with telomerase expression in melanoma

Abstract

Recurrent mutations in the promoter of the telomerase reverse transcriptase (TERT) gene were first discovered in melanoma (Horn et al., 2013; Huang et al., 2013) and subsequently in several other cancer types (Killela et al., 2013). These mutations occur mainly at positions −124 bp (chr5, 1,295,228 C>T hg19 coordinate) and −146 bp (chr5, 1,295,250 C>T hg19 coordinate) from the ATG translation start site (Heidenreich et al., 2014; Horn et al., 2013; Huang et al., 2013), and are hereafter termed as −124C>T and –146C>T, respectively (Figure 1a). Mutually exclusive −124C>T and –146C>T mutations have been detected in more than 65% of melanomas (Network, 2015). These mutations contribute to TERT transcriptional upregulation by recruiting the GABPA/B1 transcription factor (Bell et al., 2015).

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