Summary

MicroRNAs are small non-coding RNA molecules that regulate gene expression by guiding degradation or translational repression of target messenger RNAs. Aberrant expression of specific microRNAs is now recognised as a hallmark of many cancers, reflecting changes in proliferation, apoptosis and metastatic potential. Their remarkable stability in tissue biopsies and diverse biofluids—particularly blood plasma, serum and urine—has sparked intense interest in their use as minimally invasive biomarkers. Advances in high-throughput sequencing, microarray analysis and quantitative PCR have facilitated comprehensive profiling of circulating microRNAs, enabling early detection, subtype classification and monitoring of treatment response. Moreover, microRNA signatures can complement established markers and imaging techniques, enhancing sensitivity and specificity. Despite promising clinical correlations, the translation of microRNA biomarkers into routine practice is hindered by pre-analytical variability, differences in extraction protocols and the need for standardised reference controls. Ongoing efforts aim to harmonise analytical workflows and validate panels in large prospective cohorts, with the ultimate goal of integrating microRNA-based assays into personalised cancer diagnostics and prognostication.

Research from Nature Portfolio

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MicroRNA Biomarkers in Cancer Diagnostics publication trend

The graph below shows the total number of articles in microrna biomarkers in cancer diagnostics across all publications each year (not limited to Nature Index journals).

Technical terms

microRNA: A short (∼22 nucleotides) non-coding RNA that post-transcriptionally regulates gene expression by base-pairing with target mRNAs.

Biomarker: A biological molecule whose presence, absence or altered level indicates a physiological or pathological state.

Liquid biopsy: A minimally invasive test of circulating biomarkers (e.g. microRNAs, cell-free DNA, proteins) obtained from biofluids to assess disease status.

Epithelial–mesenchymal transition (EMT): A process by which epithelial cells acquire mesenchymal traits, enhancing motility and invasion in cancer progression.

Cell-free DNA: Fragments of DNA released into the bloodstream from apoptotic or necrotic cells, used as a genetic biomarker in oncology.

References

  1. MicroRNA signatures differentiate types, grades, and stages of breast invasive ductal carcinoma (IDC): miRNA-target interacting signaling pathways. Cell Communication and Signaling (2024).
  2. The Circulating Biomarkers League: Combining miRNAs with Cell-Free DNAs and Proteins. International Journal of Molecular Sciences (2024).
  3. Circulating microRNAs as potential cancer biomarkers: the advantage and disadvantage. Clinical Epigenetics (2018).
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