Department of Biostatistics, School of Public Health, Yale University, New Haven, CT, USA.
Hum Genomics. 2019 Aug 1;13(1):34. 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.
近年来，下一代测序（NGS）技术的快速发展导致测序成本显著降低，同时准确性也得到了提高。在液体活检领域，NGS 已被应用于对循环肿瘤 DNA（ctDNA）进行测序。由于 ctDNA 是肿瘤细胞释放的 DNA 片段，因此它可以提供癌症的分子图谱。液体活检可应用于癌症诊断和治疗的所有阶段，允许对疾病的发展进行非侵入性和实时监测。液体活检在癌症应用中最有前途的方面是癌症筛查和早期诊断，因为它们可以带来更好的生存结果和更少的疾病负担。尽管许多 ctDNA 测序方法具有足够的灵敏度，可以检测到癌症早期极低水平的突变频率，但如何在人群筛查环境中有效地实施这些方法仍然具有挑战性。本文专注于液体活检在癌症早期筛查和诊断中的应用，介绍了与 NGS 相关的方法，综述了最新进展，总结了挑战，并讨论了未来的研究方向。
