Genomic profiling of non-small cell lung cancer: A pilot study from South India

Abstract

Introduction: Lung cancer accounts for the highest mortality globally, and there is a need to find new strategies and novel treatment options. Lung cancer is genetically heterogeneous across various ethnic populations, and therefore identifying the mutational landscape in Indian patients is important. Methods: The aim of the pilot study is to identify the prevalence and temporal sequence of molecular lesions in lung cancer patients from a regional cancer institute in South India using the circulating tumor DNA technique. Genotyping was performed on 26 newly diagnosed metastatic lung cancer patients using Illumina Omni Express Exome. Chip data were inspected using Genome Studio and subsequently exported for use with PLINK and further annotation was performed. Results: Seven genes including TP53 (61.5%), MUC16 (57.6%), KRAS (38.4%), STK11 (19.2%), Epidermal growth factor receptor (15.3%), ataxia telangiectasia mutated (15.3%), and nuclear factor-κβ (7.6%) demonstrated high incidence of mutations in patients. The other genes identified were observed in <5% of patients. Several types of mutations including missense, silent, nonsense, and frameshift mutations were observed in these genes. Conclusion: Integration of mutational profiling to identify gene mutations is required to facilitate personalized lung cancer therapy.