Next-generation sequencing in liquid biopsy: cancer screening and early detection

• Published in: Human genomics Vol. 13; no. 1; p. 34
• Main Authors: Chen, Ming, Zhao, Hongyu
• Format: Journal Article
• Language: English
• Published: England BioMed Central 01.08.2019; BMC
• Subjects: Biomarkers, Tumor - blood; Cancer screening; Circulating Tumor DNA - blood; Early detection; Early Detection of Cancer; High-Throughput Nucleotide Sequencing; Humans; Liquid biopsy; Liquid Biopsy - methods; Neoplasms - blood; Neoplasms - genetics; Next-generation sequencing; Review; Liquid biopsy; Next-generation sequencing; Early detection; Cancer screening
• ISSN: 1479-7364; 1473-9542; 1479-7364
• DOI: 10.1186/s40246-019-0220-8

In recent years, the rapid development of next-generation sequencing (NGS) technologies has led to a significant reduction in sequencing cost with improved accuracy. In the area of liquid biopsy, NGS has been applied to sequence circulating tumor DNA (ctDNA). Since ctDNA is the DNA fragments released by tumor cells, it can provide a molecular profile of cancer. Liquid biopsy can be applied to all stages of cancer diagnosis and treatment, allowing non-invasive and real-time monitoring of disease development. The most promising aspects of liquid biopsy in cancer applications are cancer screening and early diagnosis because they can lead to better survival results and less disease burden. Although many ctDNA sequencing methods have enough sensitivity to detect extremely low levels of mutation frequency at the early stage of cancer, how to effectively implement them in population screening settings remains challenging. This paper focuses on the application of liquid biopsy in the early screening and diagnosis of cancer, introduces NGS-related methods, reviews recent progress, summarizes challenges, and discusses future research directions.