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Revolutionizing Non-Invasive Biomarker Discoveries: The Power of Methylation Screening Analysis in Cell-Free DNA Liquid Biopsy

Revolutionizing Non-Invasive Biomarker Discoveries: The Power of Methylation Screening Analysis in Cell-Free DNA Liquid Biopsy

作     者:Min Seob Lee Na Young Min Hyuk Jung Kwon Yonjung Kim Isaac Kise Lee Min Seob Lee;Na Young Min;Hyuk Jung Kwon;Yonjung Kim;Isaac Kise Lee

作者机构:Eone Diagnomics Genome Center (EDGC) Incheon South Korea NGENI Foundation California USA Incheon National University (INU) Incheon South Korea 

出 版 物:《Open Journal of Genetics》 (遗传学期刊(英文))

年 卷 期:2023年第13卷第1期

页      面:48-74页

学科分类:1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主  题:Epigenetics Biomarkers Cell-Free DNA (cf-DNA) Methylation Liquid Biopsy Drug Target Methylation-Specific Restriction Enzyme (MSRE) Cancer Epigenetic Drugs Hypermethylation Hypomethylation 

摘      要:Epigenetic changes of DNA, including methylation, have long been recognized as key indicators of various diseases, including aging, cancer, and neurological disorders. Biomarker discoveries based on distinct methylation patterns for both hypermethylation and hypomethylation lead the way in discovery of novel diagnosis and treatment targets. Many different approaches are present to detect the level of methylation in whole genome (whole genome bisulfite sequencing, microarray) as well as at specific loci (methylation specific PCR). Cell-free DNA (cf-DNA) found in body fluids like blood provides information about DNA methylation and serves as a less invasive approach for genetic screening. Cell-free DNA and methylation screening technologies, when combined, have the potential to transform the way we approach genetic screening and personalized therapy. These technologies can help enhance disease diagnostic accuracy and inform the development of targeted therapeutics by providing a non-invasive way for acquiring genomic information and identifying disease-associated methylation patterns. We highlight the clinical benefits of using cell-free DNA (cf-DNA) liquid biopsy analysis and available methylation screening technologies that have been crucial in identifying biomarkers for disease from patients using a non-invasive way. Powering such biomarker discoveries are various methods of cf-DNA methylation analysis such as Bisulfite Sequencing and most recently, Methylation-Specific Restriction Enzyme (MSRE-seq) Analysis, paving the way for novel epigenetic biomarker discoveries for more robust diagnosis such as early disease detection, prognosis, monitoring of disease progression and treatment response as well as discovery of novel drug targets.

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