Single nucleotide polymorphisms and cancer susceptibility

Na Deng, Heng Zhou, Hua Fan and Yuan Yuan _

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Oncotarget. 2017; 8:110635-110649. https://doi.org/10.18632/oncotarget.22372

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Na Deng1,2, Heng Zhou1, Hua Fan2 and Yuan Yuan1,3

1Tumor 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

2Department of Hematology, The Fourth Affiliated Hospital of China Medical University, Shenyang 110001, China

3National Clinical Research Center for Digestive Diseases, Xi’an 110001, China

Correspondence to:

Yuan Yuan, email: [email protected]

Keywords: single nucleotide polymorphism, genetic, epigenetic, susceptibility, cancer

Received: August 26, 2016     Accepted: October 03, 2017     Published: November 07, 2017


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.

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