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

Autor:	da Silva TF; Programa de Residência Multiprofissional em Saúde (Oncologia), Hospital Universitário João de Barros Barreto, Universidade Federal do Pará, Belém, Brazil.; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil., de Azevedo JC Jr; Programa de Residência Multiprofissional em Saúde (Oncologia), Hospital Universitário João de Barros Barreto, Universidade Federal do Pará, Belém, Brazil.; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil., Teixeira EB; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil., Casseb SMM; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil., Moreira FC; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil., de Assumpção PP; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil., Dos Santos SEB; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil., Calcagno DQ; Programa de Residência Multiprofissional em Saúde (Oncologia), Hospital Universitário João de Barros Barreto, Universidade Federal do Pará, Belém, Brazil.; Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil.
Jazyk:	angličtina
Zdroj:	Frontiers in molecular biosciences [Front Mol Biosci] 2024 Aug 06; Vol. 11, pp. 1423470. Date of Electronic Publication: 2024 Aug 06 (Print Publication: 2024).
DOI:	10.3389/fmolb.2024.1423470
Abstrakt:	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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Silva, Azevedo , Teixeira, Casseb, Moreira, Assumpção, Santos and Calcagno.)
Databáze:	MEDLINE
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