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  • ISSN 1674-8301
  • CN 32-1810/R
Volume 35 Issue 1
Jan.  2021
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Li Wanlin, Wu Min, Wang Qianqian, Xu Kun, Lin Fan, Wang Qianghu, Guo Renhua. A comparative genomics analysis of lung adenocarcinoma for Chinese population by using panel of recurrent mutations[J]. The Journal of Biomedical Research, 2021, 35(1): 11-20. DOI: 10.7555/JBR.34.20200068
Citation: Li Wanlin, Wu Min, Wang Qianqian, Xu Kun, Lin Fan, Wang Qianghu, Guo Renhua. A comparative genomics analysis of lung adenocarcinoma for Chinese population by using panel of recurrent mutations[J]. The Journal of Biomedical Research, 2021, 35(1): 11-20. DOI: 10.7555/JBR.34.20200068
shu

A comparative genomics analysis of lung adenocarcinoma for Chinese population by using panel of recurrent mutations

  • 1.

    Department of Bioinformatics, Nanjing Medical University, Nanjing, Jiangsu 211166, China

  • 2.

    Department of Oncology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China

  • 3.

    Department of Cell Biology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, Jiangsu 211166, China

  • 4.

    Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing, Jiangsu 211166, China

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  • Corresponding author:

    Qianghu Wang, Department of Bioinformatics, Nanjing Medical University, 101 Longmian Avenue, Nanjing, Jiangsu 211166, China. Tel: +86-18014801332, E-mail: wangqh@njmu.edu.cn

    Renhua Guo, Department of Oncology, the First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, Jiangsu 210029, China. Tel: +86-13585145540, E-mail: rhguo@njmu.edu.cn

  • Received Date: May 11, 2020
  • Revised Date: June 17, 2020
  • Accepted Date: June 18, 2020
  • Available Online: August 20, 2020
    Graphical Abstract
    • Abstract
  • 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=2.67×10−5), 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.
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  • The authors reported no conflict of interests. This is an open access article under the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited.

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