Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 270-278 http://medscipublisher.com/index.php/cge 270 Review and Progress Open Access Genetic Insights into Esophageal Cancer: From Risk Factors to Tumorigenesis Ruyi Shao1 XudongLü2 1 School of Medicine, ShaoXing University, Shaoxing, 312000, Zhejiang, China 2 The Zhuji Hospital of ShaoXing University, Zhuji, 311800, Zhejiang, China Corresponding email: zjjz_1122@yeah.net Cancer Genetics and Epigenetics, 2024, Vol.12, No.5 doi: 10.5376/cge.2024.12.0026 Received: 07 Aug., 2024 Accepted: 15 Sep., 2024 Published: 30 Sep., 2024 Copyright © 2024 Shao and Lü, 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: Shao R.Y., and Lü X.D., 2024, Genetic insights into esophageal cancer: from risk factors to tumorigenesis, Cancer Genetics and Epigenetics, 12(5): 270-278 (10.5376/cge.2024.12.0026) Abstract Esophageal cancer remains one of the most lethal malignancies worldwide, with esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC) being the predominant subtypes. This study delves into the genetic and molecular mechanisms of esophageal cancer, from hereditary risk factors to tumorigenesis. The study discusses key genetic mutations, including those in TP53, PIK3CA, NOTCH1, and CDKN2A, as well as the roles of epigenetic modifications, such as DNA methylation and non-coding RNA regulation, in cancer progression. It also explores the interactions between environmental factors (e.g., smoking, alcohol consumption, and diet) and genetic susceptibility, highlighting the impact of gene-environment interactions on cancer susceptibility. Additionally, advances in genomic technologies, such as next-generation sequencing and CRISPR, are discussed for their potential in early detection and personalized treatment. The analysis covers tumor heterogeneity and its implications for therapy resistance and personalized medicine, offering recommendations for future research and clinical applications to improve prevention, diagnosis, and treatment outcomes in esophageal cancer. Keywords Esophageal cancer; Genetic mutations; Epigenetics; Tumorigenesis; Gene-environment interactions 1 Introduction Esophageal cancer (EC) is one of the most lethal malignancies worldwide, ranking as the sixth leading cause of cancer-related deaths globally. Two primary histological subtypes of esophageal cancer are esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC), which have distinct etiologies and geographic prevalence. ESCC is more common in Asia and Africa, while EAC predominates in Western countries (Watanabe, 2015). Despite advances in treatment, the overall prognosis remains poor, with a five-year survival rate of 15~25% due to the frequent late-stage diagnosis (Zhu et al., 2021). The global burden of esophageal cancer continues to rise, particularly in regions where risk factors such as tobacco use, alcohol consumption, and gastroesophageal reflux are prevalent (Kaz et al., 2016). Understanding the genetic factors contributing to esophageal cancer is crucial for advancing early diagnosis and developing targeted therapies. Genetic variations, including single nucleotide polymorphisms (SNPs) and mutations in key tumor suppressor genes, have been shown to significantly influence esophageal cancer susceptibility (Li et al., 2020). Studies have demonstrated that mutations in DNA damage repair genes, such as XRCC4 and RAD51, elevate the risk of esophageal cancer by impairing cellular repair mechanisms (Sun et al., 2015). Additionally, epigenetic modifications such as DNA methylation and histone acetylation are involved in the progression from normal esophageal epithelium to cancer (Kailasam et al., 2015). Recognizing these genetic and epigenetic changes is essential for improving risk prediction and treatment stratification. The primary provides a comprehensive overview of the genetic insights into esophageal cancer, from identifying risk factors to understanding the mechanisms driving tumorigenesis. By examining the genetic landscape of EC, including gene-environment interactions and the role of mutations in key signaling pathways, this report offers new perspectives on early detection, prevention, and therapeutic strategies. Understanding these genetic factors is critical for developing personalized treatments that improve patient outcomes and reduce mortality. Through this research, we hope to bridge the gap between genetic findings and clinical applications, ultimately contributing to
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