ArticleBreast cancer (Tokyo, Japan)2018
TERT promoter hotspot mutations in breast cancer.
Article in Breast cancer (Tokyo, Japan), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- The Role of Non-Coding Regions in Breast Cancer: From Gene Regulation to Therapeutic Implications.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Telomeres, telomerase, and cancer: mechanisms, biomarkers, and therapeutics.Experimental hematology & oncology · 2025Review
- Fibromatosis-like metaplastic carcinoma with aggressive metastasis and a TERT promoter mutation: a case report and literature review.Frontiers in medicine · 2025Article
- Copy number alterations in metastatic and early breast tumours: prognostic and acquired biomarkers of resistance to CDK4/6 inhibitors.British journal of cancer · 2024Article
- Regulation and clinical potential of telomerase reverse transcriptase (TERT/hTERT) in breast cancer.Cell communication and signaling : CCS · 2023Review
- Nuclear and Cytoplasmic hTERT, Tumor-Infiltrating Lymphocytes, and Telomere Elongation Leukocytes Are Independent Factors in the Response to Neoadjuvant Treatment in HER2-Enriched Breast Cancer.Current oncology (Toronto, Ont.) · 2023Article
- Review
- Clinicopathological features and genomic profiles of a group of secretory breast carcinomas in which progressive cases have more complex genomic features.Diagnostic pathology · 2022Article
- THOR is a targetable epigenetic biomarker with clinical implications in breast cancer.Clinical epigenetics · 2022Article
- Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.Neuropathology and applied neurobiology · 2022Review
- Article
- Integrated Analysis of Altered lncRNA, circRNA, microRNA, and mRNA Expression in Hepatocellular Carcinoma Carrying TERT Promoter Mutations.Journal of hepatocellular carcinoma · 2022Article
- Hotspot mutation profiles of AKT1 in Asian women with breast and endometrial cancers.BMC cancer · 2021Article
- Breast cancer: Muscarinic receptors as new targets for tumor therapy.World journal of clinical oncology · 2021Review
- TERT Genotype Polymorphism: A Glance of Change Egyptian MDS Outcomes.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.NPJ breast cancer · 2021Article
- Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.Molecular and clinical oncology · 2020Article
- Genetic Profiling of Breast Cancer with and Without Preexisting Metabolic Disease.Translational oncology · 2020Article
- TERT-Regulation and Roles in Cancer Formation.Frontiers in immunology · 2020Review
- Telomere Maintenance in Pediatric Cancer.International journal of molecular sciences · 2019Review
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTelomerase reverse transcriptase (TERT) promoter mutations have been discovered in solid and hematological malignancies, where they reflect TERT activation and cell-cycle progression. In melanoma, glioma, and thyroid cancers, TERT promoter mutations are associated with a poor prognosis. However, no studies have evaluated the prevalence and prognostic significance of TERT promoter mutations in breast cancer.
methodsWe analyzed TERT promoter hotspot mutations (C228T and C250T) using direct sequencing of DNA from 319 tumor tissues. We also collected clinical data from cases that were positive for TERT promoter mutations.
resultsWe detected TERT promoter mutations in three (0.9%) of the 319 cases. Two patients had hormone receptor-positive and human epidermal growth factor receptor 2-negative cancer, while the third patient had triple-negative cancer. All three patients had initially been diagnosed with operable breast cancer and undergone surgical treatment. The relapse-free survivals of these patients were 83, 226, and 270 months, respectively. The mutations were C250T in the triple-negative cancer case and C228T in the remaining two cases.
conclusionGiven the rarity of TERT promoter mutations, further studies are needed to confirm their prognostic significance in breast cancer cases.
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