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

Wenmin Yang, Te Zhang, Xuming Song, Gaochao Dong, Lin Xu, Feng Jiang

2022Cancers42 citationsDOIOpen Access PDF

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.

Topics & Concepts

Single-nucleotide polymorphismGenome-wide association studySNPCarcinogenesisBiologyGeneticsCancerGenetic associationGeneDiseaseComputational biologyBioinformaticsMedicineGenotypeInternal medicineRNA modifications and cancerEpigenetics and DNA MethylationGenomics and Chromatin Dynamics