AUTHOR=Silva Tamires Ferreira da , Azevedo Juscelino Carvalho de , Teixeira Eliel Barbosa , Casseb Samir Mansour Moraes , Moreira Fabiano Cordeiro , Assumpção Paulo Pimentel de , Santos Sidney Emanuel Batista dos , Calcagno Danielle Queiroz TITLE=From haystack to high precision: advanced sequencing methods to unraveling circulating tumor DNA mutations JOURNAL=Frontiers in Molecular Biosciences VOLUME=11 YEAR=2024 URL=https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2024.1423470 DOI=10.3389/fmolb.2024.1423470 ISSN=2296-889X ABSTRACT=

Identifying mutations in cancer-associated genes to guide patient treatments is essential for precision medicine. Circulating tumor DNA (ctDNA) offers valuable insights for early cancer detection, treatment assessment, and surveillance. However, a key issue in ctDNA analysis from the bloodstream is the choice of a technique with adequate sensitivity to identify low frequent molecular changes. Next-generation sequencing (NGS) technology, evolving from parallel to long-read capabilities, enhances ctDNA mutation analysis. In the present review, we describe different NGS approaches for identifying ctDNA mutation, discussing challenges to standardized methodologies, cost, specificity, clinical context, and bioinformatics expertise for optimal NGS application.