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MicroRNAs (miRNAs) are a highly conserved class of small, noncoding RNAs, which regulate gene expression by post‑transcriptional degradation or translational repression. miRNAs are involved in the regulation of cell apoptosis, proliferation, differentiation and other physiological processes. They have been increasingly recognized to be involved in the initiation and progression of human carcinogenesis. More recently, it has been proposed that the genetic variations in miRNA genes, those encoding their biogenesis pathway and target binding sites, may affect the miRNA processing machinery and/or targeting. Polymorphisms in the miRNA regulatory pathway may result in the loss or gain of a miRNA function, which can function as an oncogene or tumor suppressor. Increasing evidence has suggested a marked association between miRNA polymorphisms and cancer diagnosis, treatment efficacy and prognosis. Progress in current understanding of genetic polymorphisms of miRNA regulatory pathways have important implications, not only understanding the pathogenesis of various types of cancer, but also in identifying biomarkers for their diagnosis and prognosis. In the present review, a comprehensive list of potentially functional miRNA‑associated single nucleotide polymorphisms are presented, and their importance as candidate cancer biomarkers is discussed.

Identification of diagnostic and prognostic biomarkers for cancer: Focusing on genetic variations in microRNA regulatory pathways (Review)