IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v8y2017i1d10.1038_ncomms15290.html
   My bibliography  Save this article

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
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/ncomms15290
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/ncomms15290?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Guozhong Jiang & Zhizhong Wang & Zhenguo Cheng & Weiwei Wang & Shuangshuang Lu & Zifang Zhang & Chinedu A. Anene & Faraz Khan & Yue Chen & Emma Bailey & Huisha Xu & Yunshu Dong & Peinan Chen & Zhongxi, 2024. "The integrated molecular and histological analysis defines subtypes of esophageal squamous cell carcinoma," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    2. 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.
    3. 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.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms15290. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.