Human TERT promoter mutations as a prognostic biomarker in glioma

Branka Powter; Sarah A. Jeffreys; Heena Sareen; Adam Cooper; Daniel Brungs; Joseph Po; Tara Roberts; Eng-Siew Koh; Kieran F. Scott; Mila Sajinovic; Joey Y. Vessey; Paul de Souza; Therese M. Becker

doi:10.1007/s00432-021-03536-3

Human TERT promoter mutations as a prognostic biomarker in glioma

Branka Powter, Sarah A. Jeffreys, Heena Sareen, Adam Cooper, Daniel Brungs, Joseph Po, Tara Roberts, Eng-Siew Koh, Kieran F. Scott, Mila Sajinovic, Joey Y. Vessey, Paul de Souza, Therese M. Becker

Western Sydney University

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1007-1017
Number of pages	11
Journal	Journal of Cancer Research and Clinical Oncology
Volume	147
Issue number	4
DOIs	https://doi.org/10.1007/s00432-021-03536-3
Publication status	Published - 2021

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10.1007/s00432-021-03536-3

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title = "Human TERT promoter mutations as a prognostic biomarker in glioma",

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.",

author = "Branka Powter and Jeffreys, {Sarah A.} and Heena Sareen and Adam Cooper and Daniel Brungs and Joseph Po and Tara Roberts and Eng-Siew Koh and Scott, {Kieran F.} and Mila Sajinovic and Vessey, {Joey Y.} and Souza, {Paul de} and Becker, {Therese M.}",

year = "2021",

doi = "10.1007/s00432-021-03536-3",

language = "English",

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TY - JOUR

T1 - Human TERT promoter mutations as a prognostic biomarker in glioma

AU - Powter, Branka

AU - Jeffreys, Sarah A.

AU - Sareen, Heena

AU - Cooper, Adam

AU - Brungs, Daniel

AU - Po, Joseph

AU - Roberts, Tara

AU - Koh, Eng-Siew

AU - Scott, Kieran F.

AU - Sajinovic, Mila

AU - Vessey, Joey Y.

AU - Souza, Paul de

AU - Becker, Therese M.

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

UR - https://hdl.handle.net/1959.7/uws:60633

U2 - 10.1007/s00432-021-03536-3

DO - 10.1007/s00432-021-03536-3

M3 - Article

SN - 0171-5216

VL - 147

SP - 1007

EP - 1017

JO - Journal of Cancer Research and Clinical Oncology

JF - Journal of Cancer Research and Clinical Oncology

IS - 4

ER -

Human TERT promoter mutations as a prognostic biomarker in glioma

Abstract

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