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Updated: Jun 16, 2025
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
16.8K
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
Summary
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.
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