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Pavan et al. J Transl Genet Genom 2021;5:173-81 Journal of Translational
DOI: 10.20517/jtgg.2021.18
Genetics and Genomics

Review Open Access

An update of aberrant methylation detection on
circulating cell-free DNA as a tool to improve

prostate cancer diagnosis and prognosis

2
1
Nicola Pavan , Gabriele Grassi , Bruna Scaggiante 2
1
Department of Medical, Surgical and Health Science, Urology Clinic, University of Trieste, Trieste 34127, Italy.
2
Department of Life Sciences, University of Trieste, Trieste 34127, Italy.
Correspondence to: Prof. Bruna Scaggiante, Department of Life Sciences, University of Trieste, via Valerio 28/1, Trieste 34127,
Italy. E-mail: bscaggiante@units.it

How to cite this article: Pavan N, Grassi G, Scaggiante B. An update of aberrant methylation detection on circulating cell-free
DNA as a tool to improve prostate cancer diagnosis and prognosis. J Transl Genet Genom 2021;5:173-81.
https://dx.doi.org/10.20517/jtgg.2021.18
Received: 31 Mar 2021 Accepted: 28 May 2021 First online: 2 Jun 2021

Academic Editor: Sanjay Gupta Copy Editor: Xi-Jun Chen Production Editor: Xi-Jun Chen

Abstract
Prostate cancer (PCa) remains a disease of high incidence, but orphan of a specific screening program. For this
reason, non-invasive techniques capable to predict PCa in patients with high specificity and sensitivity are still an
urgent need. One of the major goals is to improve the PCa diagnosis and the identification of patients who benefit
from tissue biopsies. Another need is the necessity to have novel biomarkers to better stratify the risk of patients
with PCa to predict the aggressiveness of the tumor and the overall survival. Liquid biopsy can be an important
non-invasive tool to stratify PCa at the molecular level to improve diagnosis and prognosis, and, possibly, to
develop screening programs and follow-up. With this review, we are reporting the lastest update of aberrant
methylation detection on circulating tumor DNA as a tool to improve prostate cancer diagnosis and prognosis.

Keywords: Liquid biopsy, DNA, methylation, prostate cancer, cfDNA, ctDNA, biomarker

INTRODUCTION
Prostate cancer (PCa) is the main cause of cancer-related death in men in Western countries . Screening
[1]
programs to identify adenocarcinoma by the prostate-specific antigen (PSA) have a specificity too low to be

© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
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