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Epigenetic Biomarkers in Cell-Free DNA and Applications in Liquid Biopsy

by 1,2 and 1,2,*
1
Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong SAR 999077, China
2
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR 999077, China
*
Author to whom correspondence should be addressed.
Received: 5 December 2018 / Revised: 20 December 2018 / Accepted: 2 January 2019 / Published: 9 January 2019
(This article belongs to the Special Issue Epigenetic DNA Modifications as Cancer Biomarkers)
Cell-free circulating DNA (cfDNA) in plasma has gained global interest as a diagnostic material for noninvasive prenatal testing and cancer diagnosis, or the so-called “liquid biopsy”. Recent studies have discovered a great number of valuable genetic and epigenetic biomarkers for cfDNA-based liquid biopsy. Considering that the genetic biomarkers, e.g., somatic mutations, usually vary from case to case in most cancer patients, epigenetic biomarkers that are generalizable across various samples thus possess certain advantages. In this study, we reviewed the most recent studies and advances on utilizing epigenetic biomarkers for liquid biopsies. We first reviewed more traditional methods of using tissue/cancer-specific DNA methylation biomarkers and digital PCR or sequencing technologies for cancer diagnosis, as well as tumor origin determination. In the second part, we discussed the emerging novel approaches for exploring the biological basis and clinical applications of cfDNA fragmentation patterns. We further provided our comments and points of view on the future directions on epigenetic biomarker development for cfDNA-based liquid biopsies. View Full-Text
Keywords: plasma; cell-free DNA; cancer testing; DNA methylation; preferred ends; fragmentation pattern; tissue-of-origin analysis plasma; cell-free DNA; cancer testing; DNA methylation; preferred ends; fragmentation pattern; tissue-of-origin analysis
MDPI and ACS Style

Gai, W.; Sun, K. Epigenetic Biomarkers in Cell-Free DNA and Applications in Liquid Biopsy. Genes 2019, 10, 32. https://0-doi-org.brum.beds.ac.uk/10.3390/genes10010032

AMA Style

Gai W, Sun K. Epigenetic Biomarkers in Cell-Free DNA and Applications in Liquid Biopsy. Genes. 2019; 10(1):32. https://0-doi-org.brum.beds.ac.uk/10.3390/genes10010032

Chicago/Turabian Style

Gai, Wanxia, and Kun Sun. 2019. "Epigenetic Biomarkers in Cell-Free DNA and Applications in Liquid Biopsy" Genes 10, no. 1: 32. https://0-doi-org.brum.beds.ac.uk/10.3390/genes10010032

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