Deng Na, Zhou Heng, Fan Hua, Yuan Yuan
Tumor Etiology and Screening Department of Cancer Institute and General Surgery, The First Affiliated Hospital of China Medical University, and Key Laboratory of Cancer Etiology and Prevention (China Medical University), Liaoning Provincial Education Department, Shenyang 110001, China.
Department of Hematology, The Fourth Affiliated Hospital of China Medical University, Shenyang 110001, China.
Oncotarget. 2017 Nov 7;8(66):110635-110649. doi: 10.18632/oncotarget.22372. eCollection 2017 Dec 15.
A large number of genes associated with various cancer types contain single nucleotide polymorphisms (SNPs). SNPs are located in gene promoters, exons, introns as well as 5'- and 3'- untranslated regions (UTRs) and affect gene expression by different mechanisms. These mechanisms depend on the role of the genetic elements in which the individual SNPs are located. Moreover, alterations in epigenetic regulation due to gene polymorphisms add to the complexity underlying cancer susceptibility related to SNPs. In this systematic review, we discuss the various genetic and epigenetic mechanisms involved in determining cancer susceptibility related to various SNPs located in different genetic elements. We also discuss the diagnostic potential of these SNPs and the focus for future studies.
大量与各种癌症类型相关的基因含有单核苷酸多态性（SNP）。SNP位于基因启动子、外显子、内含子以及5'和3'非翻译区（UTR），并通过不同机制影响基因表达。这些机制取决于个体SNP所在遗传元件的作用。此外，基因多态性导致的表观遗传调控改变增加了与SNP相关的癌症易感性的潜在复杂性。在本系统综述中，我们讨论了与位于不同遗传元件中的各种SNP相关的决定癌症易感性所涉及的各种遗传和表观遗传机制。我们还讨论了这些SNP的诊断潜力以及未来研究的重点。
