Technological advances in free-circulating tumor-derived DNA methylation analysis: Advances in ctDNA methylation analysis

Marcin Skalski; Jarosław Paluszczak

doi:10.20883/medical.377

Authors

Marcin Skalski Department of Pharmaceutical Biochemistry, Poznan University of Medical Sciences, Poland https://orcid.org/0000-0003-3377-8313
Jarosław Paluszczak Department of Pharmaceutical Biochemistry, Poznan University of Medical Sciences, Poland http://orcid.org/0000-0002-6187-7549

DOI:

https://doi.org/10.20883/medical.377

Keywords:

cancer, biomarkers, liquid biopsy, circulating cell-free DNA, cfDNA, DNA methylation

Abstract

Cancers still constitute an important health burden, due to their high incidence and mortality. The discovery and clinical implementation of novel sensitive diagnostic markers could improve treatment outcomes. Circulating cell-free DNA (ccfDNA) offers great promise for the development of new molecular biomarkers. However, the analysis of ccfDNA methylation poses significant challenges due to ccfDNA fragmentation and low concentration in the blood. Techniques which have recently been developed for liquid biopsy studies have been adapted to the detection of trace amounts of ccfDNA. This mini-review focuses on recent technological advances which allow the discovery of new sensitive and specific liquid biopsy cancer biomarkers based on DNA methylation detection.

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