Preliminary examination of noncoding mutations of esophageal squamous cell carcinoma in African Americans

The incidence of esophageal squamous cell carcinoma is geographically heterogeneous and exhibits complex genomic features. We aimed to preliminarily analyze noncoding mutations identified through whole-exome sequencing. Agilent SureSelect XT Human All Exon V6+UTR was used to capture the exome library from 10 African American ESCC patients. After calling variants, we analyzed noncoding mutations using Variant Effect Predictor, CScape-somatic, HumanBase modules and Opencravat. Pathway enrichment analysis was performed using the SIGNOR database via the NDEx IQuery web tool. Our results identified noncoding variants in the 3'UTR, 5'UTR, splice site, and promoter regions. We also observed a nominal enrichment of germline variations in DNA damage repair genes among patients with ESCC.