Frontiers in Molecular Biosciences (Aug 2024)

From haystack to high precision: advanced sequencing methods to unraveling circulating tumor DNA mutations

  • Tamires Ferreira da Silva,
  • Tamires Ferreira da Silva,
  • Juscelino Carvalho de Azevedo,
  • Juscelino Carvalho de Azevedo,
  • Eliel Barbosa Teixeira,
  • Samir Mansour Moraes Casseb,
  • Fabiano Cordeiro Moreira,
  • Paulo Pimentel de Assumpção,
  • Sidney Emanuel Batista dos Santos,
  • Danielle Queiroz Calcagno,
  • Danielle Queiroz Calcagno

DOI
https://doi.org/10.3389/fmolb.2024.1423470
Journal volume & issue
Vol. 11

Abstract

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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.

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