TY - JOUR AB - 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 of KRAS, KIT, PIK3CA, MET and EGFR were 52.1, 19.7, 29.9, 15.4 and 14.5%, respectively. The mutation positive rates of TP53, APC, CDKN2A, STK11 and FBXW7 were 65.8, 39.3, 32.5, 19.7 and 19.7%, respectively. The most frequent KRAS mutations were G12A/C/D/S/V, accounting for 61.2% of all KRAS mutations. The most frequent TP53 mutations were R273C/G/H/L, accounting for 8.5% of all TP53 mutations. The most frequent APC mutation was E1554fs, accounting for 19.7% of all APC mutations. IDH1 R132C/H, KIT M541L, MET N375S, and SMAD4 R361C/H were also frequently identified. TP53 mutations were more common in patients ≥60 years old (P<0.05), and IDH1 mutations 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. AD - Taizhou People's Hospital, The Center for Translational Medicine, Taizhou, Jiangsu 225300, P.R. China Xuzhou Medical University, Department of Pathology, Xuzhou, Jiangsu 221000, P.R. China Jianwei Medical Laboratory, Taizhou, Jiangsu 225300, P.R. China R&D Department, Labway Clinical Laboratories, Shanghai 210000, P.R. China AU - Ye,Jun AU - Lin,Mei AU - Zhang,Chuanmeng AU - Zhu,Xiaowei AU - Li,Sumeng AU - Liu,Hui AU - Yin,Jianfeng AU - Yu,Hong AU - Zhu,Kuichun DA - 2020/07/01 DO - 10.3892/br.2020.1303 EP - 48 IS - 1 JO - Biomed Rep KW - colorectal cancer gene mutation targeted therapy next‑generation sequencing PY - 2020 SN - 2049-9434 2049-9442 SP - 43 ST - Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications T2 - Biomedical Reports TI - Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications UR - https://doi.org/10.3892/br.2020.1303 VL - 13 ER -