Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Aug 1;13(1):34.
doi: 10.1186/s40246-019-0220-8.

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

Ming Chen  1 , Hongyu Zhao  2
Affiliations
Review

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

Ming Chen et al. Hum Genomics. .

Abstract

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.

Keywords: Cancer screening; Early detection; Liquid biopsy; Next-generation sequencing.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. World Health Organization. WHO. Cancer. 2019. https://www.who.int/news-room/fact-sheets/detail/cancer, [Accessed 12 Sept 2018].
    1. Blumen H, Fitch K, Polkus V. Comparison of treatment costs for breast cancer, by tumor stage and type of service. Am Health Drug Benefits. 2016;9(1):23. - PMC - PubMed
    1. Cipriano LE, Romanus D, Earle CC, Neville BA, Halpern EF, Gazelle GS, McMahon PM. Lung cancer treatment costs, including patient responsibility, by disease stage and treatment modality, 1992 to 2003. Value Health. 2011;14(1):41–52. doi: 10.1016/j.jval.2010.10.006. - DOI - PMC - PubMed
    1. Center for Disease Control CDC and Prevention. How to prevent cancer or find it early: screening tests. 2019. https://www.cdc.gov/cancer/dcpc/prevention/screening.htm, [Accessed 02 May 2018].
    1. Kwapisz D. The first liquid biopsy test approved. is it a new era of mutation testing for non-small cell lung cancer? Ann Transl Med. 2017;5(3):46. doi: 10.21037/atm.2017.01.32. - DOI - PMC - PubMed