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Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations

Author

Listed:
  • Jiang Chang

    (Key Laboratory for Environment and Health (Ministry of Education), School of Public Health, Huazhong University of Science and Technology)

  • Wenle Tan

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Zhiqiang Ling

    (Cancer Institute, Zhejiang Cancer Hospital)

  • Ruibin Xi

    (School of Mathematical Sciences and Center for Statistical Science, Peking University)

  • Mingming Shao

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Mengjie Chen

    (University of North Carolina
    University of North Carolina)

  • Yingying Luo

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Yanjie Zhao

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Yun Liu

    (School of Mathematical Sciences and Center for Statistical Science, Peking University)

  • Xiancong Huang

    (Cancer Institute, Zhejiang Cancer Hospital)

  • Yuchao Xia

    (School of Mathematical Sciences and Center for Statistical Science, Peking University)

  • Jinlin Hu

    (Zhejiang Cancer Hospital)

  • Joel S. Parker

    (University of North Carolina
    University of North Carolina)

  • David Marron

    (University of North Carolina)

  • Qionghua Cui

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Linna Peng

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Jiahui Chu

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Hongmin Li

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Zhongli Du

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Yaling Han

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Wen Tan

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Zhihua Liu

    (State Key Laboratory of Molecular Oncology, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Qimin Zhan

    (State Key Laboratory of Molecular Oncology, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Yun Li

    (University of North Carolina
    Lineberger Comprehensive Cancer Center, University of North Carolina)

  • Weimin Mao

    (Zhejiang Cancer Hospital)

  • Chen Wu

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

  • Dongxin Lin

    (National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College)

Abstract

Approximately half of the world’s 500,000 new oesophageal squamous-cell carcinoma (ESCC) cases each year occur in China. Here, we show whole-genome sequencing of DNA and RNA in 94 Chinese individuals with ESCC. We identify six mutational signatures (E1–E6), and Signature E4 is unique in ESCC linked to alcohol intake and genetic variants in alcohol-metabolizing enzymes. We discover significantly recurrent mutations in 20 protein-coding genes, 4 long non-coding RNAs and 10 untranslational regions. Functional analyses show six genes that have recurrent copy-number variants in three squamous-cell carcinomas (oesophageal, head and neck and lung) significantly promote cancer cell proliferation, migration and invasion. The most frequently affected genes by structural variation are LRP1B and TTC28. The aberrant cell cycle and PI3K-AKT pathways seem critical in ESCC. These results establish a comprehensive genomic landscape of ESCC and provide potential targets for precision treatment and prevention of the cancer.

Suggested Citation

  • Jiang Chang & Wenle Tan & Zhiqiang Ling & Ruibin Xi & Mingming Shao & Mengjie Chen & Yingying Luo & Yanjie Zhao & Yun Liu & Xiancong Huang & Yuchao Xia & Jinlin Hu & Joel S. Parker & David Marron & Qi, 2017. "Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations," Nature Communications, Nature, vol. 8(1), pages 1-11, August.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms15290
    DOI: 10.1038/ncomms15290
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    Cited by:

    1. Minghao Li & Zicheng Zhang & Qianrong Wang & Yan Yi & Baosheng Li, 2022. "Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
    2. Heyang Cui & Yong Zhou & Fang Wang & Caixia Cheng & Weimin Zhang & Ruifang Sun & Ling Zhang & Yanghui Bi & Min Guo & Yan Zhou & Xinhui Wang & Jiaxin Ren & Ruibing Bai & Ning Ding & Chen Cheng & Longlo, 2022. "Characterization of somatic structural variations in 528 Chinese individuals with Esophageal squamous cell carcinoma," Nature Communications, Nature, vol. 13(1), pages 1-18, December.

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