Yang Wenmin, Zhang Te, Song Xuming, Dong Gaochao, Xu Lin, Jiang Feng
Department of Thoracic Surgery, Nanjing Medical University Affiliated Cancer Hospital and Jiangsu Cancer Hospital and Jiangsu Institute of Cancer Research, Nanjing 210009, China.
Jiangsu Key Laboratory of Molecular and Translational Cancer Research, Cancer Institute of Jiangsu Province, Nanjing 210009, China.
Cancers (Basel). 2022 Nov 17;14(22):5636. doi: 10.3390/cancers14225636.
Cancer ranks as the second leading cause of death worldwide, and, being a genetic disease, it is highly heritable. Over the past few decades, genome-wide association studies (GWAS) have identified many risk-associated loci harboring hundreds of single nucleotide polymorphisms (SNPs). Some of these cancer-associated SNPs have been revealed as causal, and the functional characterization of the mechanisms underlying the cancer risk association has been illuminated in some instances. In this review, based on the different positions of SNPs and their modes of action, we discuss the mechanisms underlying how SNPs regulate the expression of target genes to consequently affect tumorigenesis and the development of cancer.
癌症是全球第二大致死原因,作为一种遗传性疾病,它具有高度遗传性。在过去几十年中,全基因组关联研究(GWAS)已经确定了许多与风险相关的基因座,其中包含数百个单核苷酸多态性(SNP)。其中一些与癌症相关的SNP已被证明具有因果关系,并且在某些情况下已经阐明了癌症风险关联背后机制的功能特征。在这篇综述中,我们根据SNP的不同位置及其作用方式,讨论SNP如何调节靶基因表达从而影响肿瘤发生和癌症发展的潜在机制。