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REVIEW article

Front. Epigenet. Epigenom.
Sec. Chromatin Epigenomics
Volume 2 - 2024 | doi: 10.3389/freae.2024.1430294

Advancements in the Clinical Application of Gene Methylation for Early Cancer Detection

Provisionally accepted
Xin Xu Xin Xu 1Yanru Guo Yanru Guo 2Mulin Liu Mulin Liu 1Yunxiang Hu Yunxiang Hu 1Shijun Li Shijun Li 1,2*
  • 1 Other, Dalian, China
  • 2 College of Laboratory Medicine, Dalian Medical University, Dalian, China

The final, formatted version of the article will be published soon.

    This review provides an overview of common assays used to screen for gene methylation and early biomarkers of methylation in various cancers. DNA methylation, one of the most well-studied epigenetic modifications, plays a crucial role in normal cell and tissue development. It is increasingly utilized as a biomarker for early cancer and precancerous lesion detection. In this review, we describe common methods associated with gene methylation, including bisulfite sequencing PCR (BSP), pyrosequencing technology (PYR), methylation-specific polymerase chain reaction (MS-PCR/MSP), methylation-sensitive high-resolution melting (MS-HRM), methylation sensitive single nucleotide primer extension (MS-SnuPE), Epityper, Droplet digital PCR (ddPCR), methylation-sensitive restriction enzyme (MSRE) analysis, COBRA and PacBio SMRT sequencing. Additionally, we summarize methylation markers and their sample types for early cancer screening, focusing on colorectal cancer, hepatocellular carcinoma, gastric cancer, pancreatic cancer, esophageal cancer (digestive system), lung cancer (respiratory system), breast cancer, ovarian cancer, cervical cancer (female reproductive system), bladder cancer, and prostate cancer (urinary system). Furthermore, we discuss the recent detection of methylation biomarkers in clinical samples such as blood, urine, sputum, feces, and tissues. The aim of this review is to summarize early methylation biomarkers that are expected or have already been clinically applied. For future large-scale studies or the integration of available methylome level data, the discovery of sufficiently sensitive clinical biomarkers is essential.

    Keywords: Cancer, gene methylation, biomarkers, methylation detection methods, epigenetics

    Received: 09 May 2024; Accepted: 02 Jul 2024.

    Copyright: © 2024 Xu, Guo, Liu, Hu and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Shijun Li, Other, Dalian, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.