TERTmonitor Efficacy and Performance in Detecting Mutations by Droplet Digital PCR

• Type: Article in International Scientific Journal
• Date: 2024

Authors

Bessa-Gonçalves, M (Author) Other; Brás, JP (Author) Other; Jesus, TT (Author) Other; Prazeres, H (Author) Other; Soares, P (Author) FMUP; Vinagre, J (Author) Other

Journal

Title: Genes

Vol. 15

Final page: 1424

ISSN: 2073-4425

Publisher: MDPI

Indexing

ISI Web of Knowledge - 0 Citations

Scopus - 0 Citations

Other information

Authenticus ID: P-017-CK8

DOI: 10.3390/genes15111424

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 14