Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma

Kan, Zhengyan, Zheng, Hancheng, Liu, Xiao, Li, Shuyu, Barber, Thomas D., Gong, Zhuolin, Gao, Huan, Hao, Ke, Willard, Melinda D., Xu, Jiangchun, Hauptschein, Robert, Rejto, Paul A., Fernandez, Julio, Wang, Guan, Zhang, Qinghui, Wang, Bo, Chen, Ronghua, Wang, Jian, Lee, Nikki P., Zhou, Wei, Lin, Zhao, Peng, Zhiyu, Yi, Kang, Chen, Shengpei, Li, Lin, Fan, Xiaomei, Yang, Jie, Ye, Rui, Ju, Jia, Wang, Kai, Estrella, Heather, Deng, Shibing, Wei, Ping, Qiu, Ming, Wulur, Isabella H., Liu, Jiangang, Ehsani, Mariam E., Zhang, Chunsheng, Loboda, Andrey, Sung, Wing Kin, Aggarwal, Amit, Poon, Ronnie T., Fan, Sheung Tat, Wang, Jun, Hardwick, James, Reinhard, Christoph, Dai, Hongyue, Li, Yingrui, Luk, John M. and Mao, Mao (2013) Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma. Genome Research, 23 9: 1422-1433. doi:10.1101/gr.154492.113

Author Kan, Zhengyan
Zheng, Hancheng
Liu, Xiao
Li, Shuyu
Barber, Thomas D.
Gong, Zhuolin
Gao, Huan
Hao, Ke
Willard, Melinda D.
Xu, Jiangchun
Hauptschein, Robert
Rejto, Paul A.
Fernandez, Julio
Wang, Guan
Zhang, Qinghui
Wang, Bo
Chen, Ronghua
Wang, Jian
Lee, Nikki P.
Zhou, Wei
Lin, Zhao
Peng, Zhiyu
Yi, Kang
Chen, Shengpei
Li, Lin
Fan, Xiaomei
Yang, Jie
Ye, Rui
Ju, Jia
Wang, Kai
Estrella, Heather
Deng, Shibing
Wei, Ping
Qiu, Ming
Wulur, Isabella H.
Liu, Jiangang
Ehsani, Mariam E.
Zhang, Chunsheng
Loboda, Andrey
Sung, Wing Kin
Aggarwal, Amit
Poon, Ronnie T.
Fan, Sheung Tat
Wang, Jun
Hardwick, James
Reinhard, Christoph
Dai, Hongyue
Li, Yingrui
Luk, John M.
Mao, Mao
Title Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma
Journal name Genome Research   Check publisher's open access policy
ISSN 1088-9051
Publication date 2013-06-30
Sub-type Article (original research)
DOI 10.1101/gr.154492.113
Open Access Status DOI
Volume 23
Issue 9
Start page 1422
End page 1433
Total pages 12
Place of publication Cold Spring Harbor, NY, United States
Publisher Cold Spring Harbor Laboratory Press
Language eng
Abstract Hepatocellular carcinoma (HCC) is one of the most deadly cancers worldwide and has no effective treatment, yet the molecular basis of hepatocarcinogenesis remains largely unknown. Here we report findings from a whole-genome sequencing (WGS) study of 88 matched HCC tumor/normal pairs, 81 of which are Hepatitis B virus (HBV) positive, seeking to identify genetically altered genes and pathways implicated in HBV-associated HCC. We find beta-catenin to be the most frequently mutated oncogene (15.9%) and TP53 the most frequently mutated tumor suppressor (35.2%). TheWnt/beta-catenin and JAK/STAT pathways, altered in 62.5% and 45.5% of cases, respectively, are likely to act as two major oncogenic drivers in HCC. This study also identifies several prevalent and potentially actionable mutations, including activating mutations of Janus kinase 1 ( JAK1), in 9.1% of patients and provides a path toward therapeutic intervention of the disease.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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