Correlation between NGS panel-based mutation results and clinical information in colorectal cancer patients

• Published in: Heliyon 2024-04, Vol.10 (7), p.e29299-e29299, Article e29299
• Main Authors: Cheng, Bo, Xu, Lin, Zhang, Yunzhi, Yang, Huimin, Liu, Shan, Ding, Shanshan, Zhao, Huan, Sui, Yi, Wang, Chan, Quan, Lanju, Liu, Jinhong, Liu, Ye, Wang, Hongming, Zheng, Zhaoqing, Wu, Xizhao, Guo, Jing, Wen, Zhaohong, Zhang, Ruya, Wang, Fei, Liu, Hongmei, Sun, Suozhu
• Format: Article
• Language: English
• Subjects: Colorectal cancer; gene mutation; microsatellite instability; Molecular targeted therapy; Next-generation sequencing
• ISSN: 2405-8440; 2405-8440
• DOI: 10.1016/j.heliyon.2024.e29299

Early mutation identification guides patients with colorectal cancer (CRC) toward targeted therapies. In the present study, 414 patients with CRC were enrolled, and amplicon-based targeted next-generation sequencing (NGS) was then performed to detect genomic alterations within the 73 cancer-related genes in the OncoAim panel. The overall mutation rate was 91.5 % (379/414). Gene mutations were detected in 38/73 genes tested. The most frequently mutated genes were TP53 (60.9 %), KRAS (46.6 %), APC (30.4 %), PIK3CA (15.9 %), FBXW7 (8.2 %), SMAD4 (6.8 %), BRAF (6.5 %), and NRAS (3.9 %). Compared with the wild type, TP53 mutations were associated with low microsatellite instability/microsatellite stability (MSI-L/MSS) (P = 0.007), tumor location (P = 0.043), and histological grade (P = 0.0009); KRAS mutations were associated with female gender (P = 0.026), distant metastasis (P = 0.023), TNM stage (P = 0.013), and histological grade (P = 0.004); APC mutations were associated with patients