Genetic Variations in Esophageal Cancer

Background: Esophageal cancer is one of the most prevalent cancers worldwide, and occurs at a relatively high frequency in China and other Asian countries. The etiology of esophageal cancer remains unclear, making its early diagnosis and treatment difficult. Summary: In recent decades, efforts using candidate gene approaches have been made to identify genetic susceptibility factors for esophageal cancer in a series of genome-wide association studies. Here, we review the latest progress in research on genetic variations in esophageal cancer cases. Key Message: Genetic variations partially account for esophageal cancer incidence and mortality rates. A comparative genomic analysis of esophageal squamous cell carcinomas and esophageal adenocarcinomas suggests little overlap genetically. Current integrated studies using high-throughput approaches have unmasked a number of novel genetic lesions in both esophageal cancer and its precursor lesions, although distinct results obtained from different regions and cohorts remain to be investigated. Practical Implications: Pooled analyses of genome-wide association studies should be conducted to establish unique susceptibility loci for specific districts and nationalities. Meanwhile, the identification of ‘driver mutations' or mutations associated with prognosis in long-term follow-up studies is critical for the development of therapeutic and prognostic strategies.