Altered epigenetic regulation is central to many human diseases, including
cancer. Over the past two decade, major advances have been made in our understanding of the role of epigenetic alterations in
carcinogenesis, particularly for DNA methylation, histone modifications and non-coding RNAs. Aberrant hypermethylation of
DNA at CpG islands is a well-established phenomenon that mediates transcriptional silencing of tumor suppressor genes, and it is an early event integral to
gastrointestinal cancer development. As such, detection of aberrant DNA methylation is being developed as
biomarkers for prognostic and diagnostic purposes in
gastrointestinal cancers. Diverse tissue types are suitable for the analyses of methylated
DNA, such as
tumor tissues, blood, plasma, and stool, and some of these markers are already utilized in the clinical setting. Recent advances in the genome-wide epigenomic approaches are enabling the comprehensive mapping of the
cancer methylome, thus providing new avenues for mining novel
biomarkers for disease prognosis and diagnosis. Here, we review the current knowledge on DNA methylation
biomarkers for the prognostication and non-invasive diagnosis of
gastrointestinal cancers and highlight their clinical application.