Single nucleotide polymorphisms and cancer susceptibility

// Na Deng 1, 2 , Heng Zhou 1 , Hua Fan 2 and Yuan Yuan 1, 3 1 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 2 Department of Hematology, The Fourth Affiliated Hospital of China Medical University, Shenyang 110001, China 3 National Clinical Research Center for Digestive Diseases, Xi’an 110001, China Correspondence to: Yuan Yuan, email: yuanyuan@cmu.edu.cn Keywords: single nucleotide polymorphism, genetic, epigenetic, susceptibility, cancer Received: August 26, 2016      Accepted: October 03, 2017      Published: November 07, 2017 ABSTRACT 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.