Title

Human TERT promoter mutations as a prognostic biomarker in glioma

Publication Name

Journal of Cancer Research and Clinical Oncology

Abstract

The TERT promoter (pTERT) mutations, C228T and C250T, play a significant role in malignant transformation by telomerase activation, oncogenesis and immortalisation of cells. C228T and C250T are emerging as important biomarkers in many cancers including glioblastoma multiforme (GBM), where the prevalence of these mutations is as high as 80%. Additionally, the rs2853669 single nucleotide polymorphism (SNP) may cooperate with these pTERT mutations in modulating progression and overall survival in GBM. Using liquid biopsies, pTERT mutations, C228T and C250T, and other clinically relevant biomarkers can be easily detected with high precision and sensitivity, facilitating longitudinal analysis throughout therapy and aid in cancer patient management. In this review, we explore the potential for pTERT mutation analysis, via liquid biopsy, for its potential use in personalised cancer therapy. We evaluate the relationship between pTERT mutations and other biomarkers as well as their potential clinical utility in early detection, prognostication, monitoring of cancer progress, with the main focus being on brain cancer.

Open Access Status

This publication may be available as open access

Volume

147

Issue

4

First Page

1007

Last Page

1017

Funding Sponsor

Cancer Institute NSW

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Link to publisher version (DOI)

http://dx.doi.org/10.1007/s00432-021-03536-3