肺癌相关基因检测研究进展

Advances in The Detection of lung cancer gene

肺癌是全球常见的高致死率的恶性肿瘤之一。虽然全球范围内的戒烟潮有效地减少了肺癌的发生,但是鉴定出肺癌相关基因,有助于理解癌症发生发展机制,从而为肺癌的预防和靶向治疗奠定基础。通过全基因组关联分析,鉴定出肺癌发生的相关候选基因,包括染色体上三个区域5p15,6p21和15q25,涉及的基因包括乙酰胆碱受体基因,端粒酶基因和CLPTM1L基因等。随之,研究者又鉴定出更多的导致肺癌的遗传易感性因素,包括一些罕见的基因变异,如CHEK2基因,以及启动子超甲基化等。本综述从影响肺癌风险性的基因、肺癌的全基因组关联分析、启动子超甲基化三个方面简述了肺癌相关基因的研究进展。

Lung cancer is one of the most common forms of malignant tumor with high fatality rate worldwide. Although reduction of tobacco consumption is the effective strategy to reduce lung-cancer burden, identification of genes involved in the cause of the tumor could be benefit for further understanding of the underlying mechanisms, and establish the basis of prevention strategies and targeted treatments. Candidate gene involved in lung cancer have been recently identified through genome-wide association studies, including three separate loci(5p15, 6p21, and 15q25), and include genes that regulate acetylcholine nicotinic receptors, telomerase production, and CLPTM1 L gene. Then, much about genetic susceptibility factor remains to be discovered, including rarer gene variants, such as CHEK2 gene, and promoter hypermethylation. This paper express the advance from three aspects,the risk genes, Genome-wide association study and Promoter methylation.