ArticleEpigenetics2011
CpG island hypermethylation of BRCA1 and loss of pRb as co-occurring events in basal/triple-negative breast cancer.
Article in Epigenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Association of BRCA1 Promoter Methylation with Breast Cancer in Asia: A Meta- AnalysisAsian Pacific journal of cancer prevention : APJCP · 2018Pooled it
- Association of BRCA1 promoter methylation with sporadic breast cancers: Evidence from 40 studies.Scientific reports · 2015Pooled it
- Randomized phase II comparison of single-agent carboplatin versus combination of carboplatin and everolimus for advanced triple negative breast cancer.Breast cancer research and treatment · 2025Trial
- Phase 2 trial of everolimus and carboplatin combination in patients with triple negative metastatic breast cancer.Breast cancer research : BCR · 2014Trial
- The dual immune landscape of homologous recombination-deficient tumors: mechanisms and therapeutic implications.Cancer metastasis reviews · 2026Review
- DNA Methylation and Demethylation in Triple-Negative Breast Cancer: Associations with Clinicopathological Characteristics and the Chemotherapy Response.Biomedicines · 2025Article
- p16 Immunohistochemical Patterns in Triple-Negative Breast Cancer: Clinical and Genomic Similarities of the p16 Diffuse Pattern to pRB Deficiency.Pathobiology : journal of immunopathology, molecular and cellular biology · 2025Article
- BRCA1 & BRCA2 methylation as a prognostic and predictive biomarker in cancer: Implementation in liquid biopsy in the era of precision medicine.Clinical epigenetics · 2024Review
- Concurrent RB1 Loss and BRCA Deficiency Predicts Enhanced Immunologic Response and Long-term Survival in Tubo-ovarian High-grade Serous Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Concurrent RB1 loss andmedRxiv : the preprint server for health sciences · 2023Article
- Loss of Brca1 and Trp53 in adult mouse mammary ductal epithelium results in development of hormone receptor-positive or hormone receptor-negative tumors, depending on inactivation of Rb family proteins.Breast cancer research : BCR · 2022Article
- Loss of function of BRCA1 promotes EMT in mammary tumors through activation of TGFβR2 signaling pathway.Cell death & disease · 2022Article
- A triple-negative breast cancer surrogate subtype classification that correlates with gene expression subtypes.Breast cancer research and treatment · 2022Article
- Relevance of pRB Loss in Human Malignancies.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Review
- The Clinical and Pathological Profile of BRCA1 Gene Methylated Breast Cancer Women: A Meta-Analysis.Cancers · 2021Review
- Mechanisms of resistance to cyclin-dependent kinase 4/6 inhibitors.Molecular biology reports · 2021Review
- GATA3 functions downstream of BRCA1 to suppress EMT in breast cancer.Theranostics · 2021Article
- Promoter Hypermethylation and Expression Changes of BRCA1 Gene in a Cohort of Sporadic Breast Cancer Cases among Pakistani Population.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Article
- DNA methylation inhibitor attenuates polyglutamine-induced neurodegeneration by regulating Hes5.EMBO molecular medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Triple-negative breast cancer (TNBC) occurs in approximately 15% of all breast cancer patients, and the incidence of TNBC is greatly increased in BRCA1 mutation carriers. This study aimed to assess the impact of BRCA1 promoter methylation with respect to breast cancer subtypes in sporadic disease. Tissue microarrays (TMAs) were constructed representing tumors from 303 patients previously screened for BRCA1 germline mutations, of which a subset of 111 sporadic tumors had previously been analyzed with respect to BRCA1 methylation. Additionally, a set of eight tumors from BRCA1 mutation carriers were included on the TMAs. Expression analysis was performed on TMAs by immunohistochemistry (IHC) for BRCA1, pRb, p16, p53, PTEN, ER, PR, HER2, CK5/6, EGFR, MUC1 and Ki-67. Data on BRCA1 aberrations and IHC expression was examined with respect to breast cancer-specific survival. The results demonstrate that CpG island hypermethylation of BRCA1 significantly associates with the basal/triple-negative subtype. Low expression of pRb, and high/intense p16, were associated with BRCA1 promoter hypermethylation, and the same effects were seen in BRCA1 mutated tumors. The expression patterns of BRCA1, pRb, p16 and PTEN were highly correlated, and define a subgroup of TNBCs characterized by BRCA1 aberrations, high Ki-67 (≥ 40%) and favorable disease outcome. In conclusion, our findings demonstrate that epigenetic inactivation of the BRCA1 gene associates with RB/p16 dysfunction in promoting TNBCs. The clinical implications relate to the potential use of targeted treatment based on PARP inhibitors in sporadic TNBCs, wherein CpG island hypermethylation of BRCA1 represents a potential marker of therapeutic response.
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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.