A comparative genomics analysis of lung adenocarcinoma for Chinese population by using panel of recurrent mutations
Wanlin Li1
Min Wu1
Qianqian Wang2
Kun Xu2
Fan Lin3
Qianghu Wang4
Renhua Guo2
1.Department of Bioinformatics, Nanjing Medical University, Nanjing, Jiangsu 211166, China2.Department of Oncology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China3.Department of Cell Biology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 211166,China4.Department of Bioinformatics, Nanjing Medical University, Nanjing, Jiangsu 211166, China;Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing, Jiangsu 211166, China
摘要：Previous studies have demonstrated that Chinese lung adenocarcinoma (LUAD) patients have unique genetic characteristics,however,the specific genomic features relating to the development and treatment of LUAD in the Chinese population are not fully understood.Here,we applied the ultra-deep targeted sequencing to 66 Chinese LUAD samples,accompanied by comparative analysis with 162 Caucasian LUAD in The Cancer Genome Atlas.We focused on the 68 recurrently mutated genes and results revealed that the panel-based tumor mutational burden (pTMB) is significantly higher in the Chinese LUAD (P=0.0017).Additionally,the percentage of smoking-associated C＞A transversion is significantly lower in Chinese LUAD (15.5％ vs.39.7％,P=5.69×10-27),while C＞T transition is more frequent in Chinese LUAD (35.8％ vs.25.7％,P=2.67xl0-5),which indicated the ethnic difference in mutation types.Notably,novel driver genes (GNAS and JAK1) that are peculiar to Chinese LUAD were identified,and a more convergent distribution of mutations was observed in the Chinese cohort(P=0.012) compared with scattered mutations in Caucasian LUAD.Our results present a distinct genomic profile of Chinese LUAD compared to Caucasians LUAD and elucidate the ethnic difference in mutation distribution besides the type and rate.
机标关键词：
分类号：R734.2(呼吸系肿瘤)
论文发表日期：2021-01-30
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：10( 11-20 )
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