ArticleBreast cancer research : BCR2019
BRCA1 mutations attenuate super-enhancer function and chromatin looping in haploinsufficient human breast epithelial cells.
Article in Breast cancer research : BCR, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- From cell to disease: Regulatory networks and mechanisms of super‑enhancers in aging (Review).Molecular medicine reports · 2026Review
- The role of non-coding variants in hereditary cancer syndromes: mechanistic insights and clinical implications.Annals of medicine and surgery (2012) · 2026Review
- Article
- Epigenetic drugs in cancer therapy.Cancer metastasis reviews · 2025Review
- Super-Enhancers and Their Parts: From Prediction Efforts to Pathognomonic Status.International journal of molecular sciences · 2024Review
- Genetic variant in a BaP-activated super-enhancer increases prostate cancer risk by promoting AhR-mediatedJournal of biomedical research · 2024Article
- The Tumor Suppressor BRCA1/2, Cancer Susceptibility and Genome Instability in Gynecological and Mammary Cancers.Asian Pacific journal of cancer prevention : APJCP · 2023Review
- Chromatin Organization and Transcriptional Programming of Breast Cancer Cell Identity.Endocrinology · 2023Review
- BRCA1 deficiency in mature CD8Journal for immunotherapy of cancer · 2023Article
- Somatic Super-Enhancer Epigenetic Signature for Overall Survival Prediction in Patients with Breast Invasive Carcinoma.Bioinformatics and biology insights · 2023Article
- Article
- Genome-Wide Super-Enhancer-Based Analysis: Identification of Prognostic Genes in Oral Squamous Cell Carcinoma.International journal of molecular sciences · 2022Article
- Review
- Cell-type-specific epigenomic variations associated withNAR genomics and bioinformatics · 2022Article
- Deregulation of Transcriptional Enhancers in Cancer.Cancers · 2021Review
- Super-enhancers: a new frontier for epigenetic modifiers in cancer chemoresistance.Journal of experimental & clinical cancer research : CR · 2021Review
- Oncogenic super-enhancer formation in tumorigenesis and its molecular mechanisms.Experimental & molecular medicine · 2020Review
- Functions and Clinical Significance of Super-Enhancers in Bone-Related Diseases.Frontiers in cell and developmental biology · 2020Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundBRCA1-associated breast cancer originates from luminal progenitor cells. BRCA1 functions in multiple biological processes, including double-strand break repair, replication stress suppression, transcriptional regulation, and chromatin reorganization. While non-malignant cells carrying cancer-predisposing BRCA1 mutations exhibit increased genomic instability, it remains unclear whether BRCA1 haploinsufficiency affects transcription and chromatin dynamics in breast epithelial cells.
methodsH3K27ac-associated super-enhancers were compared in primary breast epithelial cells from BRCA1 mutation carriers (BRCA1
resultsHere, we show that primary mammary epithelial cells from women with BRCA1 mutations display significant loss of H3K27ac-associated super-enhancers. These BRCA1-dependent super-enhancers are enriched with binding motifs for the GATA family. Non-tumorigenic BRCA1
conclusionsH3K27ac-associated super-enhancer loss is a previously unappreciated functional deficiency in ostensibly normal BRCA1 mutation-carrying breast epithelium. Our findings offer new mechanistic insights into BRCA1 mutation-associated transcriptional and epigenetic abnormality in breast epithelial cells and tissue/cell lineage-specific tumorigenesis.
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