Gene Methylation in Circulating Cell-Free DNA from the Blood Plasma as Prognostic and Predictive Factor in Breast Cancer

Rykov, S. V.; Filippova, E. A.; Loginov, V. I.; Braga, E. A.

Gene Methylation in Circulating Cell-Free DNA from the Blood Plasma as Prognostic and Predictive Factor in Breast Cancer

2021

Rykov, S. V. | Filippova, E. A. | Loginov, V. I. | Braga, E. A.

Despite considerable progress in the early-stage diagnostics and treatment of breast cancer (BC), there is a high chance of recurrence. The existing methods for relapse detection are not suitable for early detection, since they require invasive procedures and are not able to promptly accompany treatment. A promising method is the so-called liquid biopsy based on the analysis of genetic material from peripheral blood, in particular, the fraction of circulating cell-free DNA (cfDNA) of blood plasma. Determination of mutations, copy number, and methylation of individual genes in cfDNA makes it possible to trace changes both in the tumor focus and in the pathological process as a whole. Moreover, the method is minimally invasive and characterized by good accuracy and promptness. The present review summarizes the published data on the prognostic and predictive value of epigenetic markers based on the analysis of gene methylation in plasma or serum cfDNA of BC patients. It was demonstrated that genes hypermethylated in cfDNA (RASSF1A, RARB, SOX17, WNT5A, etc.) can serve as effective markers of overall and tumor-specific survival and chemoresistance. An important advantage of methylation markers, in contrast to markers based on single nucleotide substitutions, microsatellites, and copy number variations, is universality, early manifestation, and clear association with the biology of the pathological process. DNA methylation analysis of the most effective markers can solve the problem of early detection of metastasis and recurrence of the disease and promptly monitor the response to neoadjuvant and postoperative chemotherapy, which is the basis for a personalized approach to the treatment of BC patients.

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