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They enhance TERTp activity, resulting in increased TERT expression. In central nervous system (CNS) tumours, they are integrated as biomarkers, aiding in the diagnosis and with a role in prognosis, where, in some settings, they are associated with aggressive behaviour. In this study, we evaluated the performance of TERTmonitor for TERTp genotyping in a series of 185 gliomas in comparison to the traditional method, Sanger sequencing. Against the gold-standard Sanger method, TERTmonitor performed with a 97.8% accuracy. Inaccuracy was mainly due to the over-detection of variants in negative cases (by Sanger) and the presence of variants that can modify the chemistry of the probe detection. The distribution of the mutations was comparable to other series, with the \u2212124 being the most represented (38.92% for Sanger and TERTmonitor) and more prevalent in the higher-grade tumours, gliosarcoma (50.00%) and glioblastoma (52.6%). The non-matched cases are debatable, as we may be dealing with the reduced sensitivity of Sanger in detecting rare alleles, which strengthens the use of the TERTmonitor. With this study, we present a reliable and rapid potential tool for TERTp genotyping in gliomas.<\/jats:p>","DOI":"10.3390\/genes14091693","type":"journal-article","created":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T02:23:25Z","timestamp":1693189405000},"page":"1693","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["TERTmonitor\u2014qPCR Detection of TERTp Mutations in Glioma"],"prefix":"10.3390","volume":"14","author":[{"given":"Jo\u00e3o Paulo","family":"Br\u00e1s","sequence":"first","affiliation":[{"name":"U-Monitor Lda, 4200-135 Porto, Portugal"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"}]},{"given":"Tito Teles","family":"Jesus","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"}]},{"given":"Hugo","family":"Prazeres","sequence":"additional","affiliation":[{"name":"U-Monitor Lda, 4200-135 Porto, Portugal"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7780-0901","authenticated-orcid":false,"given":"Jorge","family":"Lima","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Instituto de Patologia e Imunologia Molecular, Universidade do Porto (Ipatimup), 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9607-6998","authenticated-orcid":false,"given":"Paula","family":"Soares","sequence":"additional","affiliation":[{"name":"U-Monitor Lda, 4200-135 Porto, Portugal"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Instituto de Patologia e Imunologia Molecular, Universidade do Porto (Ipatimup), 4200-135 Porto, Portugal"},{"name":"Faculdade de Medicina, Universidade do Porto (FMUP), 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0871-1427","authenticated-orcid":false,"given":"Jo\u00e3o","family":"Vinagre","sequence":"additional","affiliation":[{"name":"U-Monitor Lda, 4200-135 Porto, Portugal"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Instituto de Patologia e Imunologia Molecular, Universidade do Porto (Ipatimup), 4200-135 Porto, Portugal"},{"name":"Faculdade de Medicina, Universidade do Porto (FMUP), 4200-319 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1126\/science.1230062","article-title":"TERT promoter mutations in familial and sporadic melanoma","volume":"339","author":"Horn","year":"2013","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1126\/science.1229259","article-title":"Highly recurrent TERT promoter mutations in human melanoma","volume":"339","author":"Huang","year":"2013","journal-title":"Science"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1038\/ncomms3218","article-title":"High frequency of telomerase reverse-transcriptase promoter somatic mutations in hepatocellular carcinoma and preneoplastic lesions","volume":"4","author":"Nault","year":"2013","journal-title":"Nat. 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