Metabolomics in Breast Cancer Diagnosis

Metabolomics, the systematic study of small-molecule metabolites in cells, tissues or biofluids, has emerged as a powerful approach for improving breast cancer diagnosis. By capturing the end products of gene expression and protein activity, metabolomic profiling reveals dynamic biochemical changes associated with tumour initiation, progression and response to therapy. In breast cancer, both tissue-based and circulating metabolite signatures have been investigated to distinguish malignant from benign lesions, to classify molecular subtypes and to monitor minimal residual disease. High-performance analytical platforms—principally mass spectrometry and nuclear magnetic resonance spectroscopy—enable large-scale detection of amino acids, lipids, carbohydrates and other metabolites with growing sensitivity. Integration of metabolomic data with imaging, transcriptomic or genomic information has further refined our understanding of tumour heterogeneity and identified candidate pathways for targeted intervention. Applications in liquid biopsy hold particular promise for non-invasive screening, enabling serial monitoring of plasma or serum metabolites to detect early-stage disease or to predict treatment outcomes. Despite technological advances, challenges remain in standardising sample handling, in expanding coverage of the chemical space and in validating candidate biomarkers across diverse populations. Ongoing efforts to harmonise analytical workflows and to apply rigorous statistical and machine-learning approaches aim to translate metabolomic discoveries into clinically robust diagnostic tests.

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Metabolomics in Breast Cancer Diagnosis publication trend

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

Technical terms

Metabolomics: Comprehensive analysis of small molecules and metabolic intermediates present in biological samples.

Mass spectrometry: Analytical technique that measures mass-to-charge ratios of ionised molecules to identify and quantify metabolites.

Nuclear magnetic resonance spectroscopy (NMR): Method that exploits magnetic properties of atomic nuclei to determine chemical structures and concentrations of metabolites.

Liquid biopsy: Sampling and analysis of non-solid biological tissue, typically blood, to detect disease-related biomarkers.

Tumour heterogeneity: Variability in molecular and metabolic characteristics within and between tumour lesions in the same patient.

References

1. Cancer metabolites: promising biomarkers for cancer liquid biopsy. Biomarker Research (2023).
2. Image‐guided metabolomics and transcriptomics reveal tumour heterogeneity in luminal A and B human breast cancer beyond glucose tracer uptake. Clinical and Translational Medicine (2024).
3. A prospective case–cohort analysis of plasma metabolites and breast cancer risk. Breast Cancer Research (2023).