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Updated: Feb 7, 2026

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Epigenomic technologies for deciphering circulating tumor DNA
Kristina Daniūnaitė1, Sonata Jarmalaitė2, Edita Kriukienė3
1Department of Biological DNA Modification, Institute of Biotechnology, Vilnius University, Saulėtekio Av. 7, LT-10257 Vilnius, Lithuania; Human Genome Research Group, Institute of Biosciences, Vilnius University, Saulėtekio Av. 7, LT-10257 Vilnius, Lithuania.
Abstract:
Tumor-derived DNA, found in body fluids (liquid biopsy) of cancer patients as part of cell-free DNA (cfDNA), lends itself for noninvasive cancer detection and monitoring. Advantages of cfDNA as analytical target have evoked a burst of sophisticated techniques, providing clinically relevant information. Each cell type carries a unique DNA modification profile consisting mainly of patterns of 5-methylcytosine in CpG dinucleotides, which are critical for establishing and maintaining cellular identity and which are frequently disturbed in cancer. Assessment of the tumor-derived cfDNA modifications combined with high-throughput analysis techniques holds promise for developing highly specific noninvasive diagnostic tests. This review highlights recent advances in locus-specific and whole-genome analysis of cfDNA, with a specific focus on epigenetic phenomena and their clinical value.
Insights
Analyzing cell-free DNA (cfDNA) modifications in liquid biopsies offers a promising, noninvasive approach for cancer detection and monitoring. Epigenetic insights from cfDNA advance highly specific diagnostic tools for oncology.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Cell-free DNA (cfDNA) in body fluids, originating from tumors, is a valuable source for noninvasive cancer detection and monitoring.
- The unique DNA modification patterns, particularly 5-methylcytosine in CpG dinucleotides, are crucial for cellular identity and are often altered in cancer.
- These epigenetic alterations in tumor-derived cfDNA present opportunities for novel diagnostic strategies.
Purpose of the Study:
- To review recent advancements in the analysis of cfDNA, focusing on epigenetic modifications.
- To highlight the clinical utility of locus-specific and whole-genome cfDNA analysis.
- To explore the potential of cfDNA epigenetic analysis for noninvasive cancer diagnostics.
Main Methods:
- Review of recent high-throughput analysis techniques for cfDNA.
- Focus on locus-specific and whole-genome analysis of cfDNA.
- Examination of epigenetic phenomena, specifically DNA methylation patterns.
Main Results:
- Sophisticated techniques provide clinically relevant information from cfDNA.
- Assessment of tumor-derived cfDNA modifications shows promise for diagnostic tests.
- Epigenetic analysis of cfDNA is a rapidly advancing field with significant clinical potential.
Conclusions:
- Epigenetic profiling of cfDNA is a powerful tool for noninvasive cancer detection and monitoring.
- Advances in cfDNA analysis techniques are enabling highly specific diagnostic applications.
- Further research into cfDNA epigenetic phenomena will likely yield improved cancer diagnostics.
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