临床与医学基因组学杂志

Genetic Mutations in Human Esophageal and Gastric Cardia Cancers Detected by Ampliseq Sequencing

Abstract

Jianguo Lu, Shangguo Liu, Bo Qi, Wenjian Yao, Xiuguang Qin, Ling Guo,Yu Cui, ChuanningTang, Lindsey Jones, Hua Ye, Feng Lou, Dandan Zhang,Hong Sun, Yi Shi, Haichao Dong, Guangchun Zhang, Zhiyuan Liu, Zhishou Dong, Baishuai Guo, HeYan, Chaowei Yan, Lu Wang, Ziyi Su, Yangyang Li, Xue F Huang, Si-Yi Chen4, Hanchen Li and Bao

Esophageal and gastric cancers are two of the most common malignancies worldwide with particularly high mortality rates. Esophageal and gastric cardia cancers share certain environmental risk factors, but it is unclear if these cancers share similar gene mutation patterns. To improve patient diagnosis, treatment, and outcome, identification and characterization of the unique molecular mutation profiles of these cancers are needed to develop more effective target therapies. Until recently, personalized DNA sequencing to identify individual cancer mutations was unrealistic for clinical applications. But technological advancements in next-generation DNA sequencing, including the semiconductor-based Ion Torrent sequencing platform, have made DNA sequencing more cost and time effective with reliable results. Using the Ion Torrent Ampliseq Cancer Panel, we sequenced 737 loci from 45 cancer-related genes to identify genetic mutations in esophageal adenocarcinoma, esophageal squamous cell carcinoma, and gastric cardia cancer samples from Chinese patients. The sequencing analysis revealed frequent mutations in PIK3CA and TP53 genes, and less frequent mutations in several other genes. Thus, this study demonstrates the feasibility of using Ion Torrent sequencing on individual human cancers to detect patient-specific gene mutations with the goal of directing mutation-specific targeted therapies or aid in targeted drug development to more effectively treat cancer patients.