ArticleNAR cancer2022
Epigenetic alterations at distal enhancers are linked to proliferation in human breast cancer.
Article in NAR cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 18 citations in OpenAlex.
- Endothelial cell-specific DNA methylation alterations in breast cancer.Communications biology · 2026Article
- Distinct epigenetic alterations and accelerated mitotic aging define second primary breast cancers.Scientific reports · 2026Article
- Global impact of germline structural variation on the cancer proteome.Nature communications · 2026Article
- Navigating the complexities of epigenetic dysregulation in breast cancer and its implication in therapeutic interventions: a comprehensive overview.Molecular and cellular biochemistry · 2026Review
- Epigenetic determinants of an immune-evasive phenotype in HER2-low triple-negative breast cancer.NPJ precision oncology · 2025Article
- Article
- Pan-cancer, multi-omic correlates of survival transcending tumor lineage across 11,019 patients reveal targets and pathways.NPJ precision oncology · 2025Article
- A review of the use of tumour DNA methylation for breast cancer subtyping and prediction of outcomes.Clinical epigenetics · 2025Review
- SPONGE: simple prior omics network GEnerator.Bioinformatics (Oxford, England) · 2025Article
- Global DNA methylation differences involving germline structural variation impact gene expression in pediatric brain tumors.Nature communications · 2025Article
- Integrative pan-cancer analysis reveals a common architecture of dysregulated transcriptional networks characterized by loss of enhancer methylation.PLoS computational biology · 2024Article
- Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer.American journal of human genetics · 2024Article
- The DNA methylome of pediatric brain tumors appears shaped by structural variation and predicts survival.Nature communications · 2024Article
- An integrated omics approach highlights how epigenetic events can explain and predict response to neoadjuvant chemotherapy and bevacizumab in breast cancer.Molecular oncology · 2024Article
- Plasma Cell-Free Tumor Methylome as a Biomarker in Solid Tumors: Biology and Applications.Current oncology (Toronto, Ont.) · 2024Review
- Epigenetic Profiles of Triple-Negative Breast Cancers of African American and White Females.JAMA network open · 2023Article
- Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aberrant DNA methylation is an early event in breast carcinogenesis and plays a critical role in regulating gene expression. Here, we perform genome-wide expression-methylation Quantitative Trait Loci (emQTL) analysis through the integration of DNA methylation and gene expression to identify disease-driving pathways under epigenetic control. By grouping the emQTLs using biclustering we identify associations representing important biological processes associated with breast cancer pathogenesis including regulation of proliferation and tumor-infiltrating fibroblasts. We report genome-wide loss of enhancer methylation at binding sites of proliferation-driving transcription factors including CEBP-β, FOSL1, and FOSL2 with concomitant high expression of proliferation-related genes in aggressive breast tumors as we confirm with scRNA-seq. The identified emQTL-CpGs and genes were found connected through chromatin loops, indicating that proliferation in breast tumors is under epigenetic regulation by DNA methylation. Interestingly, the associations between enhancer methylation and proliferation-related gene expression were also observed within known subtypes of breast cancer, suggesting a common role of epigenetic regulation of proliferation. Taken together, we show that proliferation in breast cancer is linked to loss of methylation at specific enhancers and transcription factor binding and gene activation through chromatin looping.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.