Human TERT promoter mutations as a prognostic biomarker in glioma.
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.
['Powter|Branka|B|http://orcid.org/0000-0003-2814-456X', 'Jeffreys|Sarah A|SA|', 'Sareen|Heena|H|', 'Cooper|Adam|A|', 'Brungs|Daniel|D|', 'Po|Joseph|J|', 'Roberts|Tara|T|', 'Koh|Eng-Siew|ES|', 'Scott|Kieran F|KF|', 'Sajinovic|Mila|M|', 'Vessey|Joey Y|JY|', 'de Souza|Paul|P|', 'Becker|Therese M|TM|']
D014408:Biomarkers, Tumor D001932:Brain Neoplasms D005910:Glioma D006801:Humans D009154:Mutation D011379:Prognosis D019098:Telomerase
TERT promoter mutation Biomarker Glioma Liquid biopsy ctDNA