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Circulating Tumor DNA detection in cancer: a comprehensive overview of current detection methods and prospects

Ana Regina de Abreu, Ayla Wyninckx, Timon Vandamme, Ken Op de Beeck, Guy Van Camp, Marc Peeters, Pierre Laurent‐Puig, Julien Taı̈eb, Valérie Taly, Léonor Benhaïm

2025The Oncologist14 citationsDOIOpen Access PDF

Abstract

Complete oveview of ctDNA detection methods.The analysis of circulating tumor DNA (ctDNA) has emerged as a major minimally invasive biomarker in oncology. Numerous methods exist for ctDNA detection and should be selected based on the specific oncological context. PCR-based methods are often preferred for their sensitivity and cost-effectiveness; however, they are limited to a narrower range of genes. In contrast, NGS-based methods enable comprehensive cancer genotyping and more efficient identification of actionable mutations. Moreover, the growing number of emerging approaches, such as third--generation sequencing and fragmentomics, highlights the increasing technical complexity of ctDNA detection. Overall, this review provides insights into the advantages and limitations of various detection strategies that can help improve clinical care for patients.

Topics & Concepts

Circulating tumor DNAGenotypingCancer detectionContext (archaeology)Computational biologyDNA sequencingIdentification (biology)BiomarkerPrecision oncologyCancerMedicineComputer scienceBiologyDNAInternal medicineGeneGenotypeGeneticsPaleontologyBotanyCancer Genomics and DiagnosticsMolecular Biology Techniques and ApplicationsEnvironmental DNA in Biodiversity Studies
Circulating Tumor DNA detection in cancer: a comprehensive overview of current detection methods and prospects | Litcius