Abstract

Colon cancer remains one of the leading causes of cancer-related deaths worldwide. Transformation of colon epithelial cells into invasive adenocarcinomas has been well known to be due to the accumulation of multiple genetic and epigenetic changes. In the past decade, the etiology of inflammatory bowel disease (IBD) which is characterized by chronic inflammation of the intestinal mucosa, was only partially explained by genetic studies providing susceptibility loci, but recently epigenetic studies have provided critical evidences affecting IBD pathogenesis. Over the past decade, A deep understanding of epigenetics along with technological advances have led to identifying numerous genes that are regulated by promoter DNA hypermethylation in colorectal diseases. Recent advances in our understanding of the role of DNA methylation in colorectal diseases could improve a multitude of powerful DNA methylation-based biomarkers, particularly for use as diagnosis, prognosis, and prediction for therapeutic approaches. This review focuses on the emerging potential for translational research of epigenetic alterations into clinical utility as molecular biomarkers. Moreover, this review discusses recent progress regarding the identification of unknown hypermethylated genes in colon cancers and IBD, as well as their possible role in clinical practice, which will have important clinical significance, particularly in the era of the personalized medicine.

Highlights

  • Epigenetics have been defined as the mechanisms that initiate and maintain heritable patters of gene function and regulation in a friable manner without affecting the sequence of the genome

  • Fibrillin 2 (FBN2) is an extracellular matrix protein, and the transcription elongation regulator 1-like (TCERG1L) gene is located on chromosome 10 and has recently been shown to have frequent cancer-specific methylation according to our microarraybased approaches [32]

  • Much effort has led to a better understanding of the mechanisms that underlie DNA methylation changes in human cancer and other diseases

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Summary

Introduction

Epigenetics have been defined as the mechanisms that initiate and maintain heritable patters of gene function and regulation in a friable manner without affecting the sequence of the genome. The biological roles of epigenetic components in cancer development, called the “cancer epigenome,” have led to new opportunities for understanding the process of cancer therapy, including the detection, treatment, and prevention of cancer. This concept of the epigenome contributing to the understanding of cancer development has recently expanded to other human diseases, such as inflammatory bowel disease (IBD). This review outlines recent genome-wide epigenetic discoveries in colorectal cancer and IBD with a focus on the roles of how the epigenome may contribute to detecting or preventing cancer or other human diseases for further translational applications

Histone Modification in Cancer
DNA Methylation in Cancer
Promoter DNA Hypermethylation as a Biomarker for Clinical Use
DNA Methylation in IBD
Early Detection Methylation Biomarkers in CRC
FBN2 and TCERG1L
EVL and IGFBP3
Vimentin
FOXE1 and SYNE1
TCERG1L
Findings
Conclusions and Future Directions
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