CGE2025v13n2

Cancer Genetics and Epigenetics, 2025, Vol.13, No.2, 62-76 http://medscipublisher.com/index.php/cge 62 Research Insight Open Access Genomic Insights into the Pathogenesis of Esophageal Adenocarcinoma Tiantian Li, Jie Zhang Institute of Life Science, Jiyang College of Zhejiang A&F University, Zhuji, 311800, Zhejiang, China Corresponding author: jie.zhang@jicat.org Cancer Genetics and Epigenetics, 2025, Vol.13, No.2 doi: 10.5376/cge.2025.13.0007 Received: 21 Jan., 2025 Accepted: 23 Feb., 2025 Published: 20 Mar., 2025 Copyright © 2025 Li and Zhang, This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Li T.T., and Zhang J., 2025, Genomic insights into the pathogenesis of esophageal adenocarcinoma, Cancer Genetics and Epigenetics, 13(2): 62-76 (doi: 10.5376/cge.2025.13.0007) Abstract This study analyzed the genetic variations, chromosomal problems and epigenetic alterations in esophageal adenocarcinoma (EAC), and investigated their effects in controlling cell division, cell death and repairing DNA damage. In addition, we also explored the environment around the tumor and how cancer cells evade immune attacks, and evaluated the possible application value of genomic information in the early detection of diseases, the prediction of disease progression and the implementation of targeted treatments. The goal of this study is to enhance the methods of precise treatment by improving our understanding of the genetic characteristics of EAC, and ultimately enable patients to achieve better therapeutic effects. These results not only enhance our understanding of the formation principle of EAC disease, but also point out the direction for subsequent research and treatment methods. Keywords Microbial decomposition; Ecosystem health; Nutrient cycling; Climate change; Environmental restoration 1 Introduction Esophageal adenocarcinoma (EAC) is a type of cancer with a high degree of malignancy and fatality rate, and it is one of the main causes of death among cancer patients worldwide (Khorfan et al., 2019). In recent years, the incidence of EAC has risen rapidly, especially in Western countries. It is usually associated with Barrett's esophagus (BE), a precancerous disorder. Due to long-term gastroesophageal reflux disease (GERD), the originally normal squamous epithelium is replaced by columnar epithelium (Jammula et al., 2020; Hoppe et al., 2021). Although surgical methods and systemic treatment approaches have advanced, the treatment outcome for EAC patients remains poor, with the survival rate within five years being less than 20% (Guggenbiller et al., 2020). The high mortality rate is mainly due to the fact that the disease is mostly discovered at an advanced stage, and the molecular characteristics of this disease are very complex, making it very difficult to develop effective targeted treatment methods (Frankell et al., 2018; Hoppe et al., 2021). Genetic research is very important for clarifying the causes of EAC. The characteristics of EAC are that the genes are very unstable, and point mutations, changes in the number of gene copies, and gene rearrangements often occur (Kumar et al., 2021; Hoppe et al., 2021). These genetic changes can promote the development of Barrett's esophagus into EAC and also make the tumor resistant to chemotherapy (Maag et al., 2017; Guggenbiller et al., 2020). Recent studies have identified a variety of key genes and pathways involved in EAC, including those related to cell division regulation, DNA repair, and immune responses (Frankell et al., 2018; Khorfan et al., 2019; Nangraj et al., 2020). In addition, acquired changes in gene expression such as DNA methylation and histone modification play an important role in regulating EACgene expression and maintaining gene stability (Jammula et al., 2020; Nangraj et al., 2020). Understanding these molecular mechanisms is crucial for the development of new diagnostic indicators and therapeutic targets, which helps to detect EAC patients earlier and achieve better therapeutic effects (Maag et al., 2017; Sundaram et al., 2022). This study will explore the current situation of gene research on the pathogenesis of EAC, focus on sorting out the existing knowledge of genes related to EAC and acquired genetic changes, and analyze the important genes and molecular pathways that play a key role in the occurrence and development of EAC. The potential uses of genetic research in the early detection of EAC, disease prediction and targeted therapy were also explored. Furthermore,

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