Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Colorectal cancer (CRC) is one of the most common types of cancer in the world, and targeted therapy is frequently used in the clinical management of the disease. A complete and accurate picture of tissue gene mutations is therefore critical. Tissue specimens from 117 patients with CRC were used for high throughput DNA next-generation sequencing (NGS) analysis. Hotspots from 50 genes frequently associated with the development and progression of solid tumors were targeted for sequencing. Characterization of tissue gene mutations was performed; the tissue mutation positive rates ofKRAS,KIT,PIK3CA,METandEGFRwere 52.1, 19.7, 29.9, 15.4 and 14.5%, respectively. The mutation positive rates ofTP53,APC,CDKN2A,STK11andFBXW7were 65.8, 39.3, 32.5, 19.7 and 19.7%, respectively. The most frequentKRASmutations were G12A/C/D/S/V, accounting for 61.2% of allKRASmutations. The most frequentTP53mutations were R273C/G/H/L, accounting for 8.5% of allTP53mutations. The most frequentAPCmutation was E1554fs, accounting for 19.7% of allAPCmutations.IDH1R132C/H,KITM541L,METN375S, andSMAD4R361C/H were also frequently identified.TP53mutations were more common in patients >= 60 years old (P<0.05), andIDH1mutations were more common in male patients (P<0.05). NGS 50 gene panel sequencing provides a comprehensive tissue gene mutation profile which may significantly improve clinical management.