关键词: 肿瘤, 病因学, 中国人群, 全基因组关联研究

Abstract: Genetic etiology of human cancer remains largely unclear. It is a big challenge to elucidate the roles of genetic variants in the development of cancer comprehensively and systematically. Genome-wide association studies explore the correlation between common single nucleotide polymorphisms(SNPs) and risk of a specific cancer in a whole genome scale, providing new insights into the pathogenesis of the complex disease. Recently, GWAS has produced an impressive list of unexpected genes and chromosome regions which are associated with cancer susceptibility. This review paper introduces the published cancer GWAS in the Chinese populations and summarizes their major achievements in this field. In addition, we try to discuss the opportunities and challenges that brought by GWAS.