蛋白激酶基因在不同癌基因组中的变异频率及表达变化

Mutation frequency and expression variation of protein kinase genes in different types of cancers

目的探讨蛋白激酶基因突变与癌症发生的关系。方法本研究通过搜索癌基因组数据库,获得人类全部514个蛋白激酶基因在不同癌基因组中的变异频率及表达变化。结果基因表达搜索结果显示,绝大多数基因的表达上调。基因变异搜索结果显示,512个成员发生变异,变异频率最高为90%。其中,基因扩增频率要高于突变频率和删除频率,且删除频率最低。12个成员的突变频率>30%,功能研究相关的文献资料显示,其中的8个成员可能与癌症产生密切相关。结论笔者推测高频突变的蛋白激酶基因可能具有重要功能,其很可能是癌基因或者抑癌基因。本研究结果为进一步深入研究相关蛋白激酶基因的功能,尤其是功能未知的成员,及其与癌症发生的关系提供重要参考。

Objective To study the relationship between mutation of protein kinase （PK） genes and cancer occurrence. Methods In this study, the frequency of sequence alteration and gene expression variation of 514 PK genes in different types of cancers were obtained by searching the databases of cancer genomes. Results Results of gene expression search indicated that most of the PK genes have overexpression. Results of gene alteration search indicated that 512 genes have mutations; among which the frequency of amplification is high- er than mutation and deletion, and deletion has the lowest frequency. The highest alteration frequency is 90%. Mutation frequency of 12 genes is higher than 30%, and 8 of them are associated with cancer occurrence ac- cording to the functional studies from bibliographic databases. Conclusions We suggest that PK genes with high mutation frequency might have vital functions, and they could be oneogenes or tumor suppressor genes. This study will shed light on our understanding of the function of PK genes （especially those members without functional studies） and their roles in cancer occurrence.