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REVIEW article

Front. Mol. Biosci.
Sec. Molecular Diagnostics and Therapeutics
Volume 11 - 2024 | doi: 10.3389/fmolb.2024.1423470

From Haystack to High Precision: Advanced Sequencing Methods To Unraveling Circulating Tumor DNA Mutations

Provisionally accepted
Tamires F. Silva Tamires F. Silva 1,2*Juscelino C. Azevedo Junior Juscelino C. Azevedo Junior 3Eliel B. Teixeira Eliel B. Teixeira 1Samir Mansour Moraes Casseb Samir Mansour Moraes Casseb 1Fabiano C. Moreira Fabiano C. Moreira 1Paulo P. Assumpção Paulo P. Assumpção 1Sidney Emanuel B. Santos Sidney Emanuel B. Santos 1Danielle Q. Calcagno Danielle Q. Calcagno 1,2*
  • 1 Federal University of Pará, Belém, Brazil
  • 2 Hospital Universitário João de Barros Barreto (HUJBB), Belém, Pará, Brazil
  • 3 Núcleo de Pesquisas em Oncologia, Universidade Federal of Pará, Belém-PA, Brazil

The final, formatted version of the article will be published soon.

    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. Nextgeneration 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.

    Keywords: precision medicine, ctDNA mutation, non-targeted next generation sequencing, Targeted next generation sequencing, bioinformatics

    Received: 25 Apr 2024; Accepted: 11 Jul 2024.

    Copyright: © 2024 Silva, Azevedo Junior, Teixeira, Mansour Moraes Casseb, Moreira, Assumpção, Santos and Calcagno. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Tamires F. Silva, Federal University of Pará, Belém, Brazil
    Danielle Q. Calcagno, Federal University of Pará, Belém, Brazil

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.