Abstract

The incidence and histological type of esophageal cancer are highly variable depending on geographic location and race/ethnicity. Here we want to determine if racial difference exists in the molecular features of esophageal cancer. We firstly confirmed that the incidence rate of esophagus adenocarcinoma (EA) was higher in Whites than in Asians and Blacks, while the incidence of esophageal squamous cell carcinoma (ESCC) was highest in Asians. Then we compared the genome-wide somatic mutations, methylation, and gene expression to identify differential genes by race. The mutation frequencies of some genes in the same pathway showed opposite difference between Asian and White patients, but their functional effects to the pathway may be consistent. The global patterns of methylation and expression were similar, which reflected the common characteristics of ESCC tumors from different populations. A small number of genes had significant differences between Asians and Whites. More interesting, the racial differences of COL11A1 were consistent across multiple molecular levels, with higher mutation frequency, higher methylation, and lower expression in White patients. This indicated that COL11A1 might play important roles in ESCC, especially in White population. Additional studies are needed to further explore their functions in esophageal cancer.

Highlights

  • The World Health Organization reported that esophageal cancer was the eighth most common cancer and the sixth cause of cancer-related death in the world [1]

  • esophageal squamous cell carcinoma (ESCC) incidence rate was highest among Blacks, it dramatically decreased in recent years

  • Asians had higher incidence rate of ESCC compared with Whites, and this trend was constant over the 20-year period

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Summary

Introduction

The World Health Organization reported that esophageal cancer was the eighth most common cancer and the sixth cause of cancer-related death in the world [1]. It makes up about 9.3% of all new cancer cases in China, while it makes only 1.0% in the United States [2]. ESCC is more common in developing countries and accounts for more than 90% in Chinese esophageal cancer patients. EA is more common in developed countries and accounts for 80% in United States [1]. There are racial differences in the subtypes of esophageal cancer, the comparative studies of molecular biology in different racial groups are lacked

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