SNP-Target Genes Interaction Perturbing the Cancer Risk in the Post-GWAS

SIMPLE SUMMARY: Genome-wide association studies have identified a vast number of cancer risk-associated loci harboring numerous single nucleotide polymorphisms that regulate gene expression and affect individual genetic susceptibility to cancer through different routes. Recently, there has been some progress made regarding the molecular and biological mechanisms underlying the ways that genetic variation affects gene regulation. This review summarizes the molecular and biological mechanisms of genetic variation that affect gene regulation by drawing from the findings provided by past studies. ABSTRACT: 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.