食管癌、结直肠癌、胰腺癌、肝细胞癌和胃癌每年共同影响全球数百万患者，总体死亡率很高，而且发病率还在不断增加。此外，巴雷特食管和炎症性肠病等癌前胃肠道疾病的发病率也在增加。然而，异常 DNA 甲基化与这些疾病的关系尚不完全清楚，特别是考虑到该领域最近的研究进展。在这里，我们回顾了胃肠道肿瘤前期和肿瘤形成中的表观遗传机制的知识，考虑了作用机制、遗传和环境因素以及 CpG 岛甲基化表型。我们还重点介绍转化研究的进展，重点关注全基因组数据库数据、基于甲基化的生物标志物和诊断测试、机器学习和表观遗传治疗策略。版权所有 © 2024 AGA Institute。由爱思唯尔公司出版。保留所有权利。

Esophageal, colorectal, pancreatic, hepatocellular, and gastric cancer together impact millions of patients worldwide each year, with high overall mortality rates and are increasing in incidence. Additionally, premalignant gastrointestinal diseases such as Barrett's esophagus and inflammatory bowel disease are also increasing in incidence. However, involvement of aberrant DNA methylation in these diseases is incompletely understood, especially given recent research advancements in this field. Here, we review knowledge of this epigenetic mechanism in gastrointestinal preneoplasia and neoplasia, considering mechanisms of action, genetic and environmental factors, and CpG island methylator phenotype. We also highlight developments in translational research, focusing on genomic-wide database data, methylation-based biomarkers and diagnostic tests, machine learning, and therapeutic epigenetic strategies.Copyright © 2024 AGA Institute. Published by Elsevier Inc. All rights reserved.