Study on the changes of somatic mutation in colorectal metastatic cancer based on COSMIC database

Abstract

Objective To screen the significant differences in somatic gene mutations between primary colorectal cancer and colorectal metastatic cancer using the Catalogue of Somatic Mutations In Cancer Catalog (COSMIC) Database and analyze its possible functions and pathways. Methods The colorectal cancer whole-exome sequencing data was downloaded from the COSMIC database. In the R 3.5.0 environment, the chi-square test or Fisher′ exact test was used to analysis the primary colorectal cancer and colorectal metastatic cancer. The differences in somatic mutation genes were mined, and somatically mutated genes with significant differences were recorded and functional and pathway enrichment analysis was performed to explore their possible biological functions and pathways. Results A total of 120 somatic mutations, including RHEB, RP11-368J21.2, AGAP10, etc, were found. The GO and KEGG enrichment analysis showed that these significant differences in somatic mutations may be related to dehydrogenase activity, reductase activity, cell cycle arrest, metabolic pathway, PI3K-Akt signaling pathway, cell cycle, cell adhesion molecules, transcriptional disorders in cancer, platinum resistance, and other functions and pathways. Conclusion The significant difference in somatic mutation between primary colorectal cancer and colorectal metastatic cancer can provide a reference for studying the metastasis mechanism of colorectal cancer. Significant differences in somatic mutations may be used as clinical diagnostic markers for metastatic colorectal cancer or as targets for metastasis therapy. Key words: Colorectal neoplasms; Somatic mutation; Metastatic colorectal cancer