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Novel Epigenetic Biomarkers in Pregnancy-Related Disorders and Cancers


Novel Epigenetic Biomarkers in Pregnancy-Related Disorders and Cancers

Valentina Karin-Kujundzic et al. Cells.


As the majority of cancers and gestational diseases are prognostically stage- and grade-dependent, the ultimate goal of ongoing studies in precision medicine is to provide early and timely diagnosis of such disorders. These studies have enabled the development of various new diagnostic biomarkers, such as free circulating nucleic acids, and detection of their epigenetic changes. Recently, extracellular vesicles including exosomes, microvesicles, oncosomes, and apoptotic bodies have been recognized as powerful diagnostic tools. Extracellular vesicles carry specific proteins, lipids, DNAs, mRNAs, and miRNAs of the cells that produced them, thus reflecting the function of these cells. It is believed that exosomes, in particular, may be the optimal biomarkers of pathological pregnancies and cancers, especially those that are frequently diagnosed at an advanced stage, such as ovarian cancer. In the present review, we survey and critically appraise novel epigenetic biomarkers related to free circulating nucleic acids and extracellular vesicles, focusing especially on their status in trophoblasts (pregnancy) and neoplastic cells (cancers).

Keywords: cell-free DNA; cell-free fetal DNA; cell-free tumor DNA; exosomes; extracellular vesicles; microRNA.

Conflict of interest statement

The authors declare no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.


Figure 1
Figure 1
A diagram showing the potential utility of liquid biopsy highlighting cell-free nucleic acids and extracellular vesicles. These may undergo diverse epigenetic alterations that may have diagnostic, predictive, and prognostic values. cfDNA, cell-free DNA; ctDNA, cell-free tumor DNA; cffDNA, cell-free fetal DNA; miRNA, microRNA; lncRNA, long non-coding RNA.

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