TERTmonitor Efficacy and Performance in Detecting Mutations by Droplet Digital PCR

Data de publicação:

Autores da FMUP

  • Ana Paula Soares Dias Ferreira

    Autor

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

Genes  Multidisciplinary Digital Publishing Institute (MDPI)

Tipo:
Article
Páginas:
-
Link para outro recurso:
www.scopus.com

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Keywords

  • telomerase promoter; real-time qPCR; ddPCR; TERTmonitor; mutations

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