Circulating cell-free DNA for cancer early detection

Qiang Gao; Qiang Zeng; Zhijie Wang; Chengcheng Li; Yu Xu; Peng Cui; Xin Zhu; Huafei Lu; Guoqiang Wang; Shangli Cai; Jie Wang; Jia Fan

doi:10.1016/j.xinn.2022.100259

Circulating cell-free DNA for cancer early detection

Innovation (Camb). 2022 May 6;3(4):100259. doi: 10.1016/j.xinn.2022.100259. eCollection 2022 Jul 12.

Authors

Qiang Gao^{1

2}, Qiang Zeng³, Zhijie Wang⁴, Chengcheng Li⁵, Yu Xu⁵, Peng Cui⁵, Xin Zhu⁵, Huafei Lu⁵, Guoqiang Wang⁵, Shangli Cai⁵, Jie Wang⁴, Jia Fan^{1

2}

Affiliations

¹ Department of Liver Surgery and Transplantation, Liver Cancer Institute, Zhongshan Hospital, Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Fudan University, Shanghai 200032, China.
² Key Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.
³ Health Management Institute, The Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing 100853, China.
⁴ State Key Laboratory of Molecular Oncology, Department of Medical Oncology, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100006, China.
⁵ Burning Rock Biotech, Guangzhou 510320, China.

Abstract

Effective screening modalities are currently available for only a small subset of cancers, and they generally have suboptimal performance with complicated procedures. Therefore, there is an urgent need to develop simple, accurate, and non-invasive methods for early detection of cancers. Genetic and epigenetic alterations in plasma circulating cell-free DNA (cfDNA) have shown the potential to revolutionize methods of early detection of cancers and facilitate subsequent diagnosis to improve survival of patients. The medical interest in cfDNA assays has been inspired by emerging single- and multi-early detection of cancers studies. This review summarizes current technological and clinical advances, in the hopes of providing insights into the development and applications of cfDNA assays in various cancers and clinical scenarios. The key phases of clinical development of biomarkers are highlighted, and the future developments of cfDNA-based liquid biopsies in early detection of cancers are outlined. It is hoped that this study can boost the potential integration of cfDNA-based early detection of cancers into the current clinical workflow.

Keywords: cancer early detection; circulating cell-free DNA; liquid biopsy; methylation; multi-cancer early detection.

Publication types

Review