从大海捞针到高精度：从先进测序方法到解开循环肿瘤 DNA 突变。
From haystack to high precision: advanced sequencing methods to unraveling circulating tumor DNA mutations.
发表日期：2024
作者：
Tamires Ferreira da Silva, 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
来源：
Frontiers in Molecular Biosciences
摘要：
识别癌症相关基因的突变来指导患者治疗对于精准医疗至关重要。循环肿瘤 DNA (ctDNA) 为早期癌症检测、治疗评估和监测提供了宝贵的见解。然而，血流 ctDNA 分析的一个关键问题是选择具有足够灵敏度的技术来识别低频分子变化。新一代测序 (NGS) 技术从并行功能发展到长读长功能，增强了 ctDNA 突变分析。在本综述中，我们描述了识别 ctDNA 突变的不同 NGS 方法，讨论了最佳 NGS 应用的标准化方法、成本、特异性、临床背景和生物信息学专业知识方面的挑战。版权所有 © 2024 Silva、Azevedo、Teixeira、Casseb、Moreira、Assumpção 、桑托斯和卡尔卡尼奥。
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.Copyright © 2024 Silva, Azevedo , Teixeira, Casseb, Moreira, Assumpção, Santos and Calcagno.