Purpose: Esophageal cancer is one of the most frequent cancers worldwide and is associated with poor outcome. Besides clinicopathological data, few prognostic molecular markers exist. Esophageal Cancer Related Gene1 (ECRG1) short tandem repeats are associated with higher risk for developing esophageal squamous cell carcinoma. The aim of the present study was to evaluate the impact of DNA polymorphisms in the coding region of ECRG1 in esophageal carcinoma.
Methods: Genomic DNA of 107 patients with esophageal cancer that underwent complete surgical resection between 1997 and 2005 and of 100 healthy controls was extracted. DNA was analyzed for ECRG1 polymorphisms Arg290Arg, Arg290Gln, and Gln290Gln by PCR and gel electrophoresis. Polymorphisms were correlated with survival data by the Kaplan-Meier method, multivariate Cox regression analysis, and odds ratio were determined.
Results: Follow-up data of 102 patients with esophageal cancer were available after complete surgical resection for a mean follow-up time of 24.3 months. Polymorphism Arg290Arg was found in 47 patients (46.1%), Arg290Gln in 48 patients (47.0%) and Gln290Gln in 7 cases (6.9%). Arg290Arg polymorphism was significantly associated with reduced survival by the log-rank test (p=0.011). Multivariate regression analysis by Cox revealed polymorphism Arg290Arg to be a significant independent prognostic factor for survival (p=0.012).
Conclusions: Polymorphism Arg290Arg in ECRG1 is associated with poor clinical outcome after complete surgical resection in patients with esophageal cancer. This genetic polymorphism might be used to predict the response to neoadjuvant treatment. The role of ECRG1 in esophageal cancer development has to be determined in future studies.