Bioinformatic analysis of adenocarcinoma at esophagogastric junction and mutation sites screening of Involucrin gene

Objective To detect the gene mutations in patients with Adenocarcinoma at esophagogastric junction(AEG) and to analyze the effect of Involucrin (IVL) mutation on the biological function of tumor cells. Methods Whole exome sequencing was performed on cancerous and paired adjacent normal tissues from 22 AEG patients in Shanxi province. IVL was selected for further investigation of mutation sites. Esophagus cancer data from TCGA were divided into three groups based on IVL mutations. Differentially-expressed genes were screened and proceeded via Gene Ontology (GO) annotation and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Cell proliferation and migration assays were performed to evaluate the effect of over-expression of IVL on KYSE 150 cells. Mutant IVL oligopeptides were synthesized and used to evaluate the binding activity with TGase1. Results Five IVL mutation sites were identified in 22 AEG. GO annotation indicated that these mutations were related to the epithelial differentiation and