Cell-Free DNA Fragmentomics in Liquid Biopsy

Diagnostics

Spencer C. Ding¹  Y.M. Dennis Lo¹ 

[1] Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong, China;

关键词: cell-free DNA;    NIPT;    liquid biopsy;    cancer detection;    fragmentomics;   

DOI  :  10.3390/diagnostics12040978

来源: DOAJ

【 摘 要 】

Cell-free DNA (cfDNA) in bodily fluids has rapidly transformed the development of noninvasive prenatal testing, cancer liquid biopsy, and transplantation monitoring. Plasma cfDNA consists of a mixture of molecules originating from various bodily tissues. The study of the fragmentation patterns of cfDNA, also referred to as ‘fragmentomics’, is now an actively pursued area of biomarker research. Clues that cfDNA fragmentation patterns might carry information concerning the tissue of origin of cfDNA molecules have come from works demonstrating that circulating fetal, tumor-derived, and transplanted liver-derived cfDNA molecules have a shorter size distribution than the background mainly of hematopoietic origin. More recently, an improved understanding of cfDNA fragmentation has provided many emerging fragmentomic markers, including fragment sizes, preferred ends, end motifs, single-stranded jagged ends, and nucleosomal footprints. The intrinsic biological link between activities of various DNA nucleases and characteristic fragmentations has been demonstrated. In this review, we focus on the biological properties of cell-free DNA unveiled recently and their potential clinical applications.

【 授权许可】

Unknown