GRCh38 · COSMIC v98


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Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway.
Paper ID
Li M, Zhang Z, Li X, Ye J, Wu X, Tan Z, Liu C, Shen B, Wang XA, Wu W, Zhou D, Zhang D, Wang T, Liu B, Qu K, Ding Q, Weng H, Ding Q, Mu J, Shu Y, Bao R, Cao Y, Chen P, Liu T, Jiang L, Hu Y, Dong P, Gu J, Lu W, Shi W, Lu J, Gong W, Tang Z, Zhang Y, Wang X, Chin YE, Weng X, Zhang H, Tang W, Zheng Y, He L, Wang H, Liu Y and Liu Y
1] Department of General Surgery, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. [2] Institute of Biliary Tract Disease, Shanghai Jiao Tong University School of Medicine, Shanghai, China. [3].
Nature genetics, 2014;46(8):872-6
ISSN: 1546-1718
PMID: 24997986 (view at PubMed or Europe PMC)
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.
Paper Status