ArticleClinical epigenetics2024
Machine learning unveils an immune-related DNA methylation profile in germline DNA from breast cancer patients.
Article in Clinical epigenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Hologenomic analysis of rectal mucus sampling for detection of adenomatous polyps and colorectal cancer.Nature communications · 2025Article
- Liquid biopsy - a narrative review with an update on current US governmental clinical trials targeting immunotherapy.Future science OA · 2025Review
- DNA methylation in breast cancer: early detection and biomarker discovery through current and emerging approaches.Journal of translational medicine · 2025Review
- Artificial intelligence utilization in cancer screening program across ASEAN: a scoping review.BMC cancer · 2025Article
- The role of artificial intelligence in enhancing breast cancer screening and diagnosis: A review of current advances.BioImpacts : BI · 2025Review
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Authors and funding
14 authors.
Funding
Abstract
backgroundThere is an unmet need for precise biomarkers for early non-invasive breast cancer detection. Here, we aimed to identify blood-based DNA methylation biomarkers that are associated with breast cancer.
methodsDNA methylation profiling was performed for 524 Asian Chinese individuals, comprising 256 breast cancer patients and 268 age-matched healthy controls, using the Infinium MethylationEPIC array. Feature selection was applied to 649,688 CpG sites in the training set. Predictive models were built by training three machine learning models, with performance evaluated on an independent test set. Enrichment analysis to identify transcription factors binding to regions associated with the selected CpG sites and pathway analysis for genes located nearby were conducted.
resultsA methylation profile comprising 51 CpGs was identified that effectively distinguishes breast cancer patients from healthy controls achieving an AUC of 0.823 on an independent test set. Notably, it outperformed all four previously reported breast cancer-associated methylation profiles. Enrichment analysis revealed enrichment of genomic loci associated with the binding of immune modulating AP-1 transcription factors, while pathway analysis of nearby genes showed an overrepresentation of immune-related pathways.
conclusionThis study has identified a breast cancer-associated methylation profile that is immune-related to potential for early cancer detection.
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