DNA Methylation as a Noninvasive Epigenetic Biomarker for the Detection of Cancer

Abstract

In light of the high incidence and mortality rates of cancer, early and accurate diagnosis is an important priority for assigning optimal treatment for each individual with suspected illness. Biomarkers are crucial in the screening of patients with a high risk of developing cancer, diagnosing patients with suspicious tumours at the earliest possible stage, establishing an accurate prognosis, and predicting and monitoring the response to specific therapies. Epigenetic alterations are innovative biomarkers for cancer, due to their stability, frequency, and noninvasive accessibility in bodily fluids. Epigenetic modifications are also reversible and potentially useful as therapeutic targets. Despite this, there is still a lack of accurate biomarkers for the conclusive diagnosis of most cancer types; thus, there is a strong need for continued investigation to expand this area of research. In this review, we summarise current knowledge on methylated DNA and its implications in cancer to explore its potential as an epigenetic biomarker to be translated for clinical application. We propose that the identification of biomarkers with higher accuracy and more effective detection methods will enable improved clinical management of patients and the intervention at early-stage disease.

In silico DNA methylation analysis identifies potential prognostic biomarkers in type 2 papillary renal cell carcinoma

“…Because the sample size of type 2 PRCC from TCGA-KIRP is small, we have not divided samples into training and validation sets, thus the differentially methylated sites we identified require validation as part of future studies. In addition, while the DNA methylation markers in our present study were identified from tumor tissue, several reports have demonstrated that blood-or urine-based DNA methylation markers could be useful for noninvasive early diagnosis or prognosis of cancers such as prostate, bladder, colorectal, lung, and breast, 21,22 highlighting a logical next step for our studies with PRCC.…”

A three‐gene DNA methylation biomarker accurately classifies early stage prostate cancer

“…Few DNA methylation tests investigated for prostate cancer diagnosis. GSTP1 methylation was tested in multiple studies showing sensitivity and specificity as a single gene urine biomarker of 52% and 89%, respectively . With highly sensitive new techniques such as next‐generation sequencing, increasing sensitivity should be feasible.…”

Prognostic Relevance of SFRP1 Gene Promoter Methylation in Colorectal Carcinoma

“…MGMT in Gliomas (Weller et al, 2010). Some studies have also described value of SFRP1 as prognostic/predictive biomarker in cancer (Leygo et al, 2017;Zheng et al, 2015). The aim of our study was to look for promoter hypermethylation of SFRP1 gene in CRC, and find its prognostic significance.…”