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

Cancers (Basel). 2022 Nov 17;14(22):5636. doi: 10.3390/cancers14225636.

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.

Keywords: cancer; genome-wide association analysis; molecular and biological mechanism; single nucleotide polymorphism.

Publication types

  • Review

Grants and funding

This study was supported by grants from the National Natural Science Foundation of China (Grant No. 82073211, 82002434, 82003106, 81702892); The Project of Invigorating Health Care through Science, Technology and Education, Jiangsu Provincial Medical Innovation Team (CXTDA2017002); The Project of Invigorating Health Care through Science, Technology and Education, Jiangsu Provincial Medical Outstanding Talent (JCRCA2016001).