Abstract: Background and purpose: Lung cancer is the leading cause of morbidity and cancer-related mortality worldwide. A variety of driver genes were detected in lung cancer. Studies have shown that different gene mutations of lung cancer were found between different races. Most of Uyghurs live in Xinjiang, accompanied by a high morbidity of lung cancer. This study aimed to investigate the expression of driver genes in Uyghur patients with lung cancer in Xinjiang, China. Methods: This study collected the tissue specimens of 43 Uyghur patients with lung cancer, with a very different method to detect EGFR gene expression. real-time fluorescent quantitative polymerase chain reaction (RTFQ-PCR) was used to detect K-ras, ALK, ROS1, mutated BRAF and PIK3CA gene expression. Analysis of the correlation between lung cancer gene mutations in Uyghur and clinical features of patients with lung cancer were performed. Results: Among 43 cases of specimens, EGFR mutation rate was 11.63%, while the EGFR gene mutation rates in adenocarcinoma and squamous cell carcinoma were 26.67% and 4.76%, respectively. EGFR gene mutation was not detected in large cell carcinoma, adenosquamous carcinoma and small cell lung cancer. EGFR gene mutation rate in patients with adenocarcinoma (26.67%) was significantly higher than that in other types of lung cancer (3.57%). The difference was statistically significant  P=0.024). There were 6 patients with K-ras12/13 heterozygous mutation, and the mutation detection rate was 16.28% (6/43). There were 2 patients with PIK3CA heterozygous mutation, and the mutation detection rate was 4.65% (2/43). EGFR and K-ras mutations occurred simultaneously in 1 case. No relationship was found between EGFR mutations and age, gender, smoking status, TNM staging, ECOG score among Uyghur lung cancer patients. This study did not find mutation in ALK, ROS1 fusion gene and BRAF gene among the 43 specimens. Conclusion: Compared with Asian populations, Xinjiang Uyghur patients with lung cancer have a lower rate of EGFR mutations and a higher rate of K-ras mutations, which is similar to the characteristics of European Caucasians.

Key words: Lung cancer, Uygur, Driver gene