单核苷酸多态性在肿瘤易感性及临床应用中的研究进展

Progress in single nucleotide polymorphism with cancer susceptibility and its clinical application

单核苷酸多态性（SNP）是人类基因组中最为常见的一类遗传变异，依据其发展起来的候选基因策略、全基因组关联研究及外显子组测序等已经在鉴定肿瘤易感性方面取得了重大成就。近年来，随着高通量技术手段的发展和应用，SNP在阐述肿瘤发生的作用机制，肿瘤的预防、诊断乃至靶向治疗中都有重要的作用。

Single nucleotide polymorphisms （SNPs） are the most common genetic variants in human genome. Candidate gene, genome-wide association studies （GWASs） and exome sequencing which base on SNPs have made a great progress in identifying cancer susceptibility. The development and application of high resolutions in SNPs has played an important role in clarifying the mechanism, prevention, diagnosis and targeted therapy in cancers. （Chin J Lab Med, 2012, 35：579-584）