Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway
Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway
复制标题
胆囊癌的全外显子组和靶向基因测序鉴定了 ErbB 通路中的复发突变
DOI：
10.1038/ng.3030
复制
发表时间：
2014-08-01
期刊：
影响因子：
30.8
通讯作者：
Liu, Yingbin
中科院分区：
文献类型：
--
作者：
Li, Maolan;Zhang, Zhou;Liu, Yingbin
胆囊癌（GBC）是胆道最具侵袭性的恶性肿瘤，患者预后不良。在此我们报道了通过外显子组测序和癌症相关基因的超深度测序相结合的方法，在57对肿瘤 - 正常组织样本中对胆囊癌体细胞突变的鉴定结果。突变模式表现为在TCN位点C>T突变占主导优势。具有显著频率（错误发现率（FDR）……（此处句子不完整））的基因
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 includeTP53(47.1%),KRAS(7.8%) andERBB3(11.8%). Moreover, ErbB signaling (includingEGFR,ERBB2,ERBB3,ERBB4and 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.