TERTmonitor Efficacy and Performance in Detecting Mutations by Droplet Digital PCR

Autores da FMUP
Participantes de fora da FMUP
- Bessa-Goncalves, Mafalda
- Bras, Joao Paulo
- Jesus, Tito Teles
- Prazeres, Hugo
- Vinagre, Joao
Unidades de investigação
Abstract
Background: The screening of TERT promoter (TERTp) mutations is essential in cancer research and diagnostics, due to its prevalence in tumours associated with low self-renewal rates. TERTmonitor is a diagnosis kit primarily designed for real-time qPCR qualitative detection of -124C>T and -146C>T TERTp mutations, which are highly prevalent in several malignancies, particularly in bladder carcinoma. Objective: This study aims to investigate TERTmonitor performance in droplet digital PCR (ddPCR) in urine samples from bladder cancer patients. Methods: A total of 45 urine samples were examined by real-time qPCR and ddPCR techniques, and their performances were compared. Results: TERTmonitor had similar performance in both real-time qPCR and ddPCR platforms. Specifically, the methods exhibited a concordance rate of 95.45% and 90% for -124C>T and -146C>T mutations, respectively. Importantly, an enhanced sensitivity in certain scenarios was exhibited by ddPCR when compared to real-time qPCR, detecting mutations that the latter failed to identify in approximately 4.55% and 10% of the samples for -124C>T and -146C>T mutations, respectively. This enhanced sensitivity of ddPCR was particularly evident in samples with low-frequency mutations. Conclusions: The findings highlight the usefulness of TERTmonitor for cancer surveillance either in real-time qPCR or ddPCR platforms.
Dados da publicação
- ISSN/ISSNe:
- 2073-4425, 2073-4425
- Tipo:
- Article
- Páginas:
- -
- Link para outro recurso:
- www.scopus.com
Genes Multidisciplinary Digital Publishing Institute (MDPI)
Documentos
- Não há documentos
Filiações
Keywords
- telomerase promoter; real-time qPCR; ddPCR; TERTmonitor; mutations
Campos de estudo
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Citar a publicação
Bessa M,Bras JP,Jesus TT,Prazeres H,Soares P,Vinagre J. TERTmonitor Efficacy and Performance in Detecting Mutations by Droplet Digital PCR. Genes. 2024. 15. (11):1424. IF:3,500. (2).