ArticleNature communications2022
ESR1 mutant breast cancers show elevated basal cytokeratins and immune activation.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 70 citations in OpenAlex.
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- Article
- Endocrine therapy-specific lineage and partial epithelial-mesenchymal reprogramming defines divergent resistant cell-states in ER+ breast cancer.bioRxiv : the preprint server for biology · 2026Article
- Estrogen receptor-positive cell line xenograft models recapitulate metastatic dissemination and endocrine response of invasive lobular breast carcinoma.bioRxiv : the preprint server for biology · 2026Article
- Activating mutations in ESR1 contribute to an immunosuppressive breast tumor microenvironment by dampening cytokine secretion.JCI insight · 2026Article
- Network toxicology and Mendelian randomization reveal pathogenic factors of monoethyl phthalate-induced thyroid cancer.European thyroid journal · 2026Article
- Estrogen receptor signaling drives immune evasion and immunotherapy resistance in HR+ breast cancer.The Journal of clinical investigation · 2026Article
- SEdb 3.0: a comprehensive super-enhancer database across multiple species.Nucleic acids research · 2026Article
- Predictive value of peripheral blood cell-free DNA breast cancer gene mutation profiling for postoperative pathological malignancy in BI-RADS 4 breast nodules.Frontiers in genetics · 2026Article
- A computational medicine framework integrating multi-omics, systems biology, and artificial neural networks for Alzheimer's disease therapeutic discovery.Acta pharmaceutica Sinica. B · 2025Article
- Mechanisms of organotropism in breast cancer and predicting metastasis to distant organs using deep learning.Discover oncology · 2025Article
- ESR1 Y537S and D538G Mutations Drive Resistance to CDK4/6 Inhibitors in Estrogen Receptor-Positive Breast Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Integrating Machine Learning and Bulk and Single-Cell RNA Sequencing to Decipher Diverse Cell Death Patterns for Predicting the Prognosis of Neoadjuvant Chemotherapy in Breast Cancer.International journal of molecular sciences · 2025Article
- HLA class II-restricted T cell epitopes in public neoantigens of ESR1 and PIK3CA in breast cancer.BMC cancer · 2025Article
- ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.The journal of liquid biopsy · 2025Article
- CITEgeist: Cellular Indexing of Transcriptomes and Epitopes for Guided Exploration of Intrinsic Spatial Trends.bioRxiv : the preprint server for biology · 2025Article
- ERα dysfunction caused by ESR1 mutations and therapeutic pressure promotes lineage plasticity in ERNature cancer · 2025Article
- Cancer-cell derived S100A11 promotes macrophage recruitment in ER+ breast cancer.Oncoimmunology · 2024Article
- ACSL4-mediated H3K9 and H3K27 hyperacetylation upregulates SNAIL to drive TNBC metastasis.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- The EstroGene2.0 database for endocrine therapy response and resistance in breast cancer.NPJ breast cancer · 2024Article
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Authors and funding
26 authors at 7 institutions in 4 countries.
Funding
Abstract
Estrogen receptor alpha (ER/ESR1) is frequently mutated in endocrine resistant ER-positive (ER+) breast cancer and linked to ligand-independent growth and metastasis. Despite the distinct clinical features of ESR1 mutations, their role in intrinsic subtype switching remains largely unknown. Here we find that ESR1 mutant cells and clinical samples show a significant enrichment of basal subtype markers, and six basal cytokeratins (BCKs) are the most enriched genes. Induction of BCKs is independent of ER binding and instead associated with chromatin reprogramming centered around a progesterone receptor-orchestrated insulated neighborhood. BCK-high ER+ primary breast tumors exhibit a number of enriched immune pathways, shared with ESR1 mutant tumors. S100A8 and S100A9 are among the most induced immune mediators and involve in tumor-stroma paracrine crosstalk inferred by single-cell RNA-seq from metastatic tumors. Collectively, these observations demonstrate that ESR1 mutant tumors gain basal features associated with increased immune activation, encouraging additional studies of immune therapeutic vulnerabilities.
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