Circulating Tumor DNA in Blood and Its Utilization as a Potential Biomarker for Cancer

Authors: E. Ondroušková;  R. Hrstka
Authors‘ workplace: Regionální centrum aplikované molekulární onkologie, Masarykův onkologický ústav, Brno
Published in: Klin Onkol 2015; 28(Supplementum 2): 69-74
doi: 10.14735/amko20152S69


Pursuing sensitive methods for detection and monitoring of oncologic diseases, that would limit the stress for patients, represents a long‑standing challenge in cancer diagnostics. As an ideal non‑invasive bio­markers may be considered‑  bio­logical molecules that can be detected in blood and that provide most relevant picture about the state and development of disease. In fact, all types of cancer cells carry somatic mutations that enable the cells to escape from regulation and to grow and progress. These mutations are only present in the DNA of tumor cells and thus are hallmarks of cancer cells. Genotyping of tumor tissues becomes a common technique in clinical oncology, but it has its limits. Tissue biopsy only yields information about a very small area of tumor at the time of extraction and in some cases it is difficult or impossible to obtain the tissue sample. Furthermore, it is an invasive method that can stress patients. Analysis of circulating tumor DNA from blood –  the so‑ called liquid biopsy –  represents one possible solution. Dying tumor cells release fragments of their DNA into the blood stream. From blood, they can be isolated and subjected to analysis using new, sensitive and precise methods that detect genomic changes. These changes are evolving over time because cancer disease is characterized by evolution and ability to select new mutations that bring growth advantages or resistance to treatment. Our inability to capture the heterogeneity during tumor development is one of the major reasons responsible for failure of cancer treatment. Recent technological progress in detection and characterization of circulating DNA could enable tumor evolution monitoring in real time and become a guideline for an accurate and prompt treatment choice.

Key words:
circulating tumor DNA – tumor biomarkers – biopsy – liquid biopsy – blood – mutation

This study was supported by the European Regional Development Fund and the State Budget of the Czech Republic – RECAMO, CZ.1.05./2.1.00/03.0101, by the project MEYS – NPS I – LO1413, GACR 13-00956S, MH CZ – DRO (MMCI, 00209805) and BBMRI_CZ (LM2010004).

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

7. 4. 2015

3. 7. 2015


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