Abstract 1516: Biomedical informatics applied to the analysis of colon cancer genome: looking for a mutational pattern associated to infectious-origin cancer

Abstract Colon carcinoma, one of the most common malignancies globally, is the fourth cause of death due to cancer in Peru. Number of diagnosed cases have increased notably in the latest 5 years, which can be partially explained due to eating habits and environmental factors. In the present work we investigated the presence, in colon cancer genome, of genetic mutations reported in infectious-related cancer. Since most of gastric cancer is associated with chronic infection by Helicobacter pylori and Epstein-Barr virus (EBV), we investigated if the mutational pattern of gastric cancer caused by such infectious agents was similar to the colon carcinoma. Biomedical informatics tools were used to analyze the genomes of both gastric and colon carcinoma. Taken the 20 most frequently mutated genes both in gastric and colon cancer, a total of 8 genes in common resulted broadly mutated in both malignancies including p53, ATM, PIK3CA, ARID1A, CREBBP, KMT2D, KMT2C, and TRRAP. From such list, PIK3CA gene has been associated with gastric cancer caused by H. pylori and the mutational profile matched with that found in colon carcinoma. The point mutations of the oncoprotein PIK3CA identified equally in gastric and colon carcinoma were K111E, M1043I and E545G, all of them associated with gastric cancer caused by infection. Further screening of the gastric cancer genome allowed us to identify a point mutation of the oncoprotein β-catenin reported in infective-origin gastric cancer (D32N). Gene amplifications reported in infection-caused gastric cancer were also identified in the colon carcinoma genome in JAK2, CD274 and PDCD1LG2 genes. Finally downregulation of the tumor supresor gene FOXD3 associated to gastric cancer caused by pathogens was also found in colon carcinoma. Given that the origin of such genetic mutations have not been determined in colon cancer, our study brings evidence that colon carcinoma contain genetic mutations associated to infectious-related cancer. Further experimental studies will be required to verify the existence of mutations induced by parasites in colon carcinoma. Citation Format: Claudia Machicado, Enrique Machicado. Biomedical informatics applied to the analysis of colon cancer genome: looking for a mutational pattern associated to infectious-origin cancer. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 1516.