Functional microRNA binding site variants

Mol Oncol. 2019 Jan;13(1):4-8. doi: 10.1002/1878-0261.12421. Epub 2018 Dec 26.

Abstract

Germline single nucleotide polymorphisms are one of the most common genetic variations. Polymorphisms that cause nonsynonymous mutations in gene coding regions are known to cause serious deleterious downstream effects. However, even polymorphisms in noncoding regions can have profound functional consequences by disrupting essential regulatory sites. Specifically, polymorphisms that alter microRNA binding sites can disrupt the regulation of hallmark biological pathways implicated in tumorigenesis and tumor progression. Many of these microRNA-associated polymorphisms (miR-SNPs) have recently been shown to be important biomarkers of cancer risk, prognosis, and treatment outcomes. This review will summarize the functional impact of key miR-SNPs and define a subset of miR-SNPs that may be clinically useful prognostic or predictive biomarkers.

Keywords: KRAS-variant; biomarkers; functional variants; microRNA binding sites; microRNAs; polymorphisms.

Publication types

  • Review

MeSH terms

  • Binding Sites / genetics
  • Binding Sites / physiology
  • Biomarkers, Tumor / genetics
  • Gene Regulatory Networks
  • Genetic Predisposition to Disease
  • Germ Cells / physiology
  • MicroRNAs / genetics*
  • MicroRNAs / metabolism
  • Neoplasms / genetics
  • Polymorphism, Single Nucleotide*
  • Prognosis

Substances

  • Biomarkers, Tumor
  • MicroRNAs