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

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, Qionghua Cui, Linna Peng, Jiahui Chu, Hongmin Li, Zhongli Du, Yaling Han, Wen Tan, Zhihua Liu, Qimin Zhan, Yun Li, Weimin Mao (), Chen Wu () and Dongxin Lin
Additional contact information
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
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
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
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

Nature Communications, 2017, vol. 8, issue 1, 1-11

Abstract: 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.

Date: 2017
References: Add references at CitEc
Citations: View citations in EconPapers (3)

Downloads: (external link)
https://www.nature.com/articles/ncomms15290 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms15290

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms15290

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().