Pregledni rad

https://doi.org/10.11613/BM.2020.030504

Potential of modern circulating cell-free DNA diagnostic tools for detection of specific tumour cells in clinical practice

Jernej Gašperšič ; Medical Centre for Molecular Biology, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
Alja Videtič Paska orcid.org/0000-0002-1182-5417 ; Medical Centre for Molecular Biology, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

Sažetak

Personalized medicine is a developing field of medicine that has gained in importance in recent decades. New diagnostic tests based on the analysis
of circulating cell-free DNA (cfDNA) were developed as a tool of diagnosing different cancer types. By detecting the subpopulation of mutated DNA
from cancer cells, it is possible to detect the presence of a specific tumour in early stages of the disease. Mutation analysis is performed by quantitative
polymerase chain reaction (qPCR) or the next generation sequencing (NGS), however, cfDNA protocols need to be modified carefully in preanalytical,
analytical, and postanalytical stages.
To further improve treatment of cancer the Food and Drug Administration approved more than 20 companion diagnostic tests that combine cancer
drugs with highly efficient genetic diagnostic tools. Tools detect mutations in the DNA originating from cancer cells directly through the subpopulation
of cfDNA, the circular tumour DNA (ctDNA) analysis or with visualization of cells through intracellular DNA probes. A large number of ctDNA tests
in clinical studies demonstrate the importance of new findings in the field of cancer diagnosis.
We describe the innovations in personalized medicine: techniques for detecting ctDNA and genomic DNA (gDNA) mutations approved Food and Drug
Administration companion genetic diagnostics, candidate genes for assembling the cancer NGS panels, and a brief mention of the multitude of cfDNA
currently in clinical trials. Additionally, an overview of the development steps of the diagnostic tools will refresh and expand the knowledge of
clinics and geneticists for research opportunities beyond the development phases.

Ključne riječi

cfDNA; NGS; personalized medicine; liquid biopsy; ctDNA

Hrčak ID:

244723

URI

https://hrcak.srce.hr/244723

Datum izdavanja:

15.10.2020.

Posjeta: 1.027 *