ArticleOncotarget2016
BRCA1/2 mutations perturb telomere biology: characterization of structural and functional abnormalities in vitro and in vivo.
Article in Oncotarget, 2016. 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, 23 citations in OpenAlex.
- Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers.Discover oncology · 2026Article
- Telomere-driven dysfunctional changes in gynecological cancers: mechanistic insights, biomarker potential, and therapeutic targeting.Frontiers in cell and developmental biology · 2026Review
- Low Frequency of Pathogenic Variants in BRCA1 Exons 11/20 and BRCA2 Exon 11 Suggests Divergent Mutational Hotspots in Sudanese Breast Cancer Patients: A Case-Control Study.Breast cancer : basic and clinical research · 2026Article
- Transcriptional patterns of cancer-related genes in primary and metastatic tumours revealed by machine learning.BMC biology · 2025Article
- Structural Motifs at the Telomeres and Their Role in Regulatory Pathways.Biochemistry · 2024Review
- Obesity-Senescence-Breast Cancer: Clinical Presentation of a Common Unfortunate Cycle.Advances in experimental medicine and biology · 2024Review
- Telomere length and hTERT genetic variants as potential prognostic markers in multiple myeloma.Scientific reports · 2023Article
- The Diagnostic, Prognostic, and Therapeutic Potential of Cell-Free DNA with a Special Focus on COVID-19 and Other Viral Infections.International journal of molecular sciences · 2023Review
- BRCA1 binds TERRA RNA and suppresses R-Loop-based telomeric DNA damage.Nature communications · 2021Article
- Assessment of telomerase as drug target in breast cancer.Journal of biosciences · 2020Review
- BRCA2 Deletion Induces Alternative Lengthening of Telomeres in Telomerase Positive Colon Cancer Cells.Genes · 2019Article
- Article
- Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.Orphanet journal of rare diseases · 2019Article
- Review
- Altered expression of telomere-associated genes in leukocytes among BRCA1 and BRCA2 carriers.Molecular carcinogenesis · 2018Article
- Premature ovarian aging inOncotarget · 2018Article
- A plasma telomeric cell-free DNA level in unaffected women with BRCA1 or/and BRCA2 mutations: a pilot study.Oncotarget · 2018Article
- Antagonizing functions of BARD1 and its alternatively spliced variant BARD1δ in telomere stability.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BRCA1 mutation is associated with carcinogenesis, especially of breast tissue. Telomere maintenance is crucial for malignant transformation. Being a part of the DNA repair machinery, BRCA1 may be implicated in telomere biology. We explored the role of BRCA1 in telomere maintenance in lymphocytes of BRCA1/2 mutation carriers and in in vitro system by knocking down its expression in non-malignant breast epithelial cells.The results in both systems were similar. BRCA1/2 mutation caused perturbation of telomere homeostasis, shortening of the single stranded telomere overhang and increased the intercellular telomere length variability as well as the number of telomere free chromosomal ends and telomeric circles. These changes resulted in an increased DNA damage status. Telomerase activity, inducibility and expression remained unchanged. BRCA1 mutation resulted also in changes in the binding of shelterin proteins to telomeres. DNMT-1 levels were markedly reduced both in the carriers and in in vitro system. The methylation pattern of the sub-telomeric regions in carriers suggested hypomethylation in chromosome 10. The expression of a distinct set of genes was also changed, some of which may relate to pre-disposition to malignancy.These results show that BRCA gene products have a role in telomere length homeostasis. It is plausible that these perturbations contribute to malignant transformation in BRCA mutants.
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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.