Nature2014-06-18 4:48 PM

食道癌的基因组分析 Identification of genomic alterations in oesophageal squamous cell cancer

论文摘要 

这篇论文报告了对来自超过100例食道鳞状细胞癌的样本所做的基因组分析。研究人员识别出了8个显著突变的基因,其中6个众所周知是与肿瘤相关的基因,两个(ADAM29 和FAM135B)以前没有在这种类型的癌症中被描述过。分析显示了几个重要组蛋白调控基因的频发突变,识别出在放大的11q13.3-13.4区域被编码的一个微RNA为一个新的致癌基因。而且,食道癌还被发现在遗传上与头部和颈部鳞状细胞癌有共同致病机制。

Abstract 

Oesophageal cancer is one of the most aggressive cancers and is the sixth leading cause of cancer death worldwide. Approximately 70% of global oesophageal cancer cases occur in China, with oesophageal squamous cell carcinoma (ESCC) being the histopathological form in the vast majority of cases (>90%). Currently, there are limited clinical approaches for the early diagnosis and treatment of ESCC, resulting in a 10% five-year survival rate for patients. However, the full repertoire of genomic events leading to the pathogenesis of ESCC remains unclear. Here we describe a comprehensive genomic analysis of 158 ESCC cases, as part of the International Cancer Genome Consortium research project. We conducted whole-genome sequencing in 17 ESCC cases and whole-exome sequencing in 71 cases, of which 53 cases, plus an additional 70 ESCC cases not used in the whole-genome and whole-exome sequencing, were subjected to array comparative genomic hybridization analysis. We identified eight significantly mutated genes, of which six are well known tumour-