Targeted exome sequencing identifies mutational landscape in a cohort of 1500 Chinese patients with non-small cell lung carcinoma (NSCLC)

• Main Authors: Ya-jun Zhou, Wei Zheng, Qing-hua Zeng, Yang Ye, Ce Wang, Cheng Fang, Chao-jun Liu, Li Niu, Li-ming Wu
• Format: Article
• Language: English
• Published: BMC 2021-04-01
• Series: Human Genomics
• Subjects: Targeted exome sequencing; Non-small cell lung carcinoma; Chinese patients; Cancer; Disease
• Online Access: https://doi.org/10.1186/s40246-021-00320-9

Abstract Background Non-small cell lung carcinoma (NSCLC) is one of the most common human cancers, comprising approximately 80–85% of all lung carcinomas. An estimated incidence of NSCLC is approximately 2 million new cases per year worldwide. Results In recent decade, the treatment of NSCLC has made breakthrough progress owing to a large number of targeted therapies which were approved for clinical use. Epidemiology, genetic susceptibility, and molecular profiles in patients are likely to play an important factor in response rates and survival benefits to these targeted treatments and thus warrant further investigation on ethnic differences in NSCLC. In this study, a total number of 1500 Chinese patient samples,1000 formalin fixed paraffin-embedded (FFPE) and 500 blood samples, from patients with NSCLC were analyzed by targeted sequencing to explore mutational landscape in ethnic groups associated with China. Conclusions Overall, the data presented here provide a comprehensive analysis of NSCLC mutational landscape in Chinese patients and findings are discussed in the context of similar studies on different ethnic groups.