Department of Radiation Oncology, UCLA, Los Angeles, CA, USA.
Mol Oncol. 2019 Jan;13(1):4-8. doi: 10.1002/1878-0261.12421. Epub 2018 Dec 26.
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.
种系单核苷酸多态性是最常见的遗传变异之一。已知导致基因编码区非同义突变的多态性会导致严重的下游有害影响。然而，即使是非编码区域的多态性也可以通过破坏必要的调节位点而产生深远的功能后果。具体来说，改变 microRNA 结合位点的多态性可能会破坏与肿瘤发生和肿瘤进展相关的标志性生物途径的调节。最近已经证明，许多这些与 microRNA 相关的多态性（miR-SNPs）是癌症风险、预后和治疗结果的重要生物标志物。本综述将总结关键 miR-SNPs 的功能影响，并定义一组可能具有临床应用价值的预后或预测性 miR-SNPs 生物标志物。
