Mutation profile of non-small cell lung cancer revealed by next generation sequencing

Abstract Background Precision therapy for lung cancer requires comprehensive genomic analyses. Specific effects of targeted therapies have been reported in Asia populations, including Taiwanese, but studies rarely performed these populations. Method We enrolled 72 patients with non-small cell cancer, whom 61 had adenocarcinoma, 10 squamous carcinoma, and 1 combined adenocarcinoma carcinoma. Whole-exome or gene sequencing was performed. To identify trunk mutations, we whole-exome two tumor regions four patients. Results Nineteen known driver mutations EGFR , PIK3CA KRAS CTNNB1 MET were identified 34 the tumors evaluated (47.22%). A comparison Cancer Genome Atlas dataset showed that mutated at a much higher frequency our cohort than Caucasians, whereas TP53 found only 5.56% 25% Taiwanese patients, respectively. also new ARID1A ARID2 CDK12 CHEK2 GNAS H3F3A KDM6A KMT2C NOTCH1 RB1 RBM10 RUNX1 SETD2 SF3B1 SMARCA4 THRAP3 ZMYM2 . Moreover, all ClinVar pathogenic variants present tumor. RNA revealed branch genes expressed similar levels among different regions. Conclusions novel potentially associated tumorigenesis. The specific mutation pattern may influence therapies.