Copy number variations in esophageal squamous cell carcinoma: Emerging cancer drivers and biomarkers (Review)

The morbidity and mortality of esophageal squamous cell carcinoma (ESCC) remains high in China. ESCC is significantly influenced by a complex interplay of environmental and genetic factors. Copy number variations (CNVs) are a major form of genome-scale changes in ESCC and are closely related to tumorigenesis and development. Genome-wide detection and analysis allow the identification of important CNV-affected genes with potential clinical applications. In both coding and non-coding regions, CNVs have been identified frequently in certain segments of chromosomes. CNV-impacted genes have crucial roles in multiple cellular processes, including proliferation, apoptosis, metastasis, and metabolic pathways. More importantly, they may serve as potential therapeutic targets for patients with ESCC. Therefore, studying the role of CNVs in ESCC is helpful to explore the pathogenesis of ESCC and to find effective treatment targets, which have profound implications for the diagnosis and therapy of ESCC.