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Updated: Jun 16, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Published on: August 24, 2017

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

Tamires Ferreira da Silva1,2, Juscelino Carvalho de Azevedo1,2, Eliel Barbosa Teixeira2

  • 1Programa de Residência Multiprofissional em Saúde (Oncologia), Hospital Universitário João de Barros Barreto, Universidade Federal do Pará, Belém, Brazil.

Frontiers in Molecular Biosciences
|August 21, 2024
PubMed

Insights

Next-generation sequencing (NGS) advances circulating tumor DNA (ctDNA) analysis for precision medicine. This review explores NGS methods for ctDNA mutation detection, addressing challenges for clinical application.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Precision medicine relies on identifying cancer-associated gene mutations for targeted therapies.
  • Circulating tumor DNA (ctDNA) analysis in blood provides insights for early cancer detection, treatment monitoring, and surveillance.
  • Detecting low-frequency mutations in ctDNA requires highly sensitive analytical techniques.

Purpose of the Study:

  • To review Next-Generation Sequencing (NGS) approaches for ctDNA mutation identification.
  • To discuss the challenges and considerations for implementing NGS in clinical ctDNA analysis.

Main Methods:

  • Review of current Next-Generation Sequencing (NGS) technologies, including parallel and long-read sequencing.
  • Analysis of different NGS strategies applied to circulating tumor DNA (ctDNA) mutation detection.

Main Results:

  • NGS technology, particularly with advancements in long-read capabilities, improves the sensitivity of ctDNA mutation analysis.
  • Various NGS approaches exist, each with specific strengths and limitations for ctDNA analysis.

Conclusions:

  • Optimal application of NGS for ctDNA mutation analysis requires addressing challenges in standardization, cost, specificity, and bioinformatics.
  • Standardized NGS methodologies are crucial for reliable ctDNA mutation detection to guide precision cancer medicine.
Keywords:
bioinformaticsctDNA mutationnon-targeted next-generation sequencingprecision medicinetargeted next-generation sequencing

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