Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway

被引：363

作者：

Li, Maolan ^{[1
,2
]}

Zhang, Zhou ^{[1
,2
,3
]}

Li, Xiaoguang ^{[4
]}

Ye, Junyi ^{[5
]}

Wu, Xiangsong ^{[1
,2
]}

Tan, Zhujun ^{[1
,2
]}

Liu, Chang ^{[6
]}

Shen, Baiyong ^{[7
]}

Wang, Xu-An ^{[1
,2
]}

Wu, Wenguang ^{[1
,2
]}

Zhou, Daizhan ^{[3
]}

Zhang, Di ^{[3
]}

Wang, Ting ^{[3
]}

Liu, Bingya ^{[7
]}

Qu, Kai ^{[6
]}

Ding, Qichen ^{[1
,2
]}

Weng, Hao ^{[1
,2
]}

Ding, Qian ^{[1
,2
]}

Mu, Jiasheng ^{[1
,2
]}

Shu, Yijun ^{[1
,2
]}

Bao, Runfa ^{[1
,2
]}

Cao, Yang ^{[1
,2
]}

Chen, Peizhan ^{[4
]}

Liu, Tianyu ^{[1
,2
]}

Jiang, Lin ^{[1
,2
]}

Hu, Yunping ^{[1
,2
]}

Dong, Ping ^{[1
,2
]}

Gu, Jun ^{[1
,2
]}

Lu, Wei ^{[1
,2
]}

Shi, Weibin ^{[1
,2
]}

Lu, Jianhua ^{[1
,2
]}

Gong, Wei ^{[1
,2
]}

Tang, Zhaohui ^{[1
,2
]}

Zhang, Yong ^{[1
,2
]}

Wang, Xuefeng ^{[1
,2
]}

Chin, Y. Eugene ^{[8
]}

Weng, Xiaoling ^{[5
]}

Zhang, Hong ^{[5
]}

Tang, Wei ^{[9
]}

Zheng, Yonglan ^{[10
]}

He, Lin ^{[3
,5
,11
]}

Wang, Hui ^{[4
,12
]}

Liu, Yun ^{[5
]}

Liu, Yingbin ^{[1
,2
]}

机构：

[1] Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Gen Surg, Shanghai, Peoples R China

[2] Shanghai Jiao Tong Univ, Sch Med, Inst Biliary Tract Dis, Shanghai, Peoples R China

[3] Shanghai Jiao Tong Univ, BioX Ctr, Key Lab Genet Dev & Neuropsychiat Disorders, Minist Educ, Shanghai, Peoples R China

[4] Chinese Acad Sci, Univ Chinese Acad Sci, Inst Nutr Sci, Shanghai Inst Biol Sci,Key Lab Food Safety Res, Shanghai, Peoples R China

[5] Fudan Univ, Inst Biomed Sci, Shanghai 200433, Peoples R China

[6] Xi An Jiao Tong Univ, Affiliated Hosp 1, Coll Med, Dept Hepatobiliary Surg, Xian, Peoples R China

[7] Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med, Dept Gen Surg, Shanghai, Peoples R China

[8] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Shanghai, Peoples R China

[9] NCI, Lab Human Carcinogenesis, Ctr Canc Res, US NIH, Bethesda, MD 20892 USA

[10] Univ Chicago, Dept Med, Chicago, IL USA

[11] Zhejiang Univ, Sch Med, Womens Hosp, Hangzhou 310003, Zhejiang, Peoples R China

[12] Minist Hlth, Key Lab Food Safety Risk Assessment, Beijing, Peoples R China

来源：

NATURE GENETICS | 2014年 / 46卷 / 08期

基金：

中国博士后科学基金; 中国国家自然科学基金;

关键词：

BILIARY-TRACT; CANCER; MUTAGENESIS; GENOME;

D O I：

10.1038/ng.3030

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Individuals with gallbladder carcinoma (GBC), the most aggressive malignancy of the biliary tract, have a poor prognosis. Here we report the identification of somatic mutations for GBC in 57 tumor-normal pairs through a combination of exome sequencing and ultra-deep sequencing of cancer-related genes. The mutation pattern is defined by a dominant prevalence of C>T mutations at TCN sites. Genes with a significant frequency (false discovery rate (FDR) <0.05) of non-silent mutations include TP53 (47.1%), KRAS (7.8%) and ERBB3 (11.8%). Moreover, ErbB signaling (including EGFR, ERBB2, ERBB3, ERBB4 and their downstream genes) is the most extensively mutated pathway, affecting 36.8% (21/57) of the GBC samples. Multivariate analyses further show that cases with ErbB pathway mutations have a worse outcome (P = 0.001). These findings provide insight into the somatic mutational landscape in GBC and highlight the key role of the ErbB signaling pathway in GBC pathogenesis.

引用

页码：872 / 876

页数：5

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