TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations.

ABSTRACT:

Background

The role of telomerase reverse transcriptase (TERT) in gliomagenesis has been recently further strengthened by the frequent occurrence of TERT promoter mutations (TERTp-mut) in gliomas and evidence that the TERT SNP genetic rs2736100 influences glioma risk. TERTp-mut creates a binding site for Ets/TCF transcription factors, whereas the common rs2853669 polymorphism disrupts another Ets/TCF site on TERT promoter.

Methods

We sequenced for TERTp-mut in 807 glioma DNAs and in 235 blood DNAs and analysed TERT expression by RT-PCR in 151 samples. TERTp-mut status and TERTp polymorphism rs2853669 were correlated with histology, genomic profile, TERT mRNA expression, clinical outcome and rs2736100 genotype.

Results

TERTp-mut identified in 60.8% of gliomas (491 out

SUBMITTER: Labussiere M 

PROVIDER: S-EPMC4229642 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature