文章：

人类癌症基因普查

A census of human cancer genes

原文发布日期：2004-03-01

DOI: 10.1038/nrc1299

类型: Review Article

开放获取: 否

要点：

1. We have conducted a census from the literature of genes that are mutated and causally implicated in cancer development ('cancer genes').
2. So far, 291 cancer genes have been reported, more than 1% of all the genes in the human genome.
3. 90% of cancer genes show somatic mutations in cancer, 20% show germline mutations and 10% show both.
4. The most common mutation class among the known cancer genes is a chromosomal translocation that creates a chimeric gene or apposes a gene to the regulatory elements of another gene.
5. Many more cancer genes have been found in leukaemias, lymphomas and sarcomas than in other types of cancer, despite the fact that they represent only 10% of human cancer. These genes are usually altered by chromosomal translocation.
6. The most common domain that is encoded by cancer genes is the protein kinase. Several domains that are involved in DNA binding and transcriptional regulation are common in proteins that are encoded by cancer genes.

要点翻译：

1. 我们对文献中报道的与癌症发生存在因果关系的突变基因（即"癌症基因"）进行了系统性普查。
2. 目前已有291个癌症基因被报道，占人类基因组基因总数的1%以上。
3. 90%的癌症基因在癌症中表现体细胞突变，20%表现种系突变，10%同时存在两种突变类型。
4. 已知癌症基因中最常见的突变类型是染色体易位，这种易位会形成嵌合基因或将某个基因置于其他基因的调控元件附近。
5. 尽管白血病、淋巴瘤和肉瘤仅占人类癌症的10%，但在这些癌症中发现的癌症基因数量远超过其他癌种。这些基因通常通过染色体易位发生改变。
6. 癌症基因编码的最常见功能域是蛋白激酶结构域。在癌症基因编码的蛋白质中，多个参与DNA结合和转录调控的功能域较为常见。

英文摘要：

A central aim of cancer research has been to identify the mutated genes that are causally implicated in oncogenesis ('cancer genes'). After two decades of searching, how many have been identified and how do they compare to the complete gene set that has been revealed by the human genome sequence? We have conducted a 'census' of cancer genes that indicates that mutations in more than 1% of genes contribute to human cancer. The census illustrates striking features in the types of sequence alteration, cancer classes in which oncogenic mutations have been identified and protein domains that are encoded by cancer genes.

摘要翻译： 

癌症研究的一个核心目标是鉴定那些在肿瘤发生中具有因果作用的突变基因（即“癌症基因”）。经过二十年的搜寻，已经鉴定出多少个这样的基因？它们与人类基因组序列所揭示的完整基因集相比又如何？我们进行了一项癌症基因的“普查”，结果显示，超过1%的基因突变与人类癌症相关。该普查揭示了癌症基因在序列变异类型、已发现致癌突变的癌症类别以及癌症基因编码的蛋白质结构域等方面的显著特征。

原文链接：

A census of human cancer genes