ArticleThe Journal of pathology2014
Frequent somatic mutations of the telomerase reverse transcriptase promoter in ovarian clear cell carcinoma but not in other major types of gynaecological malignancy.
Article in The Journal of pathology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Clinical Characteristics and Prognostic Significance of TERT Promoter Mutations in Cancer: A Cohort Study and a Meta-Analysis.PloS one · 2016Pooled it
- Clinicogenomic Landscape of Histologic Subtypes in Ovarian Cancer: Real-World Evidence From a Japanese Nationwide Cohort.JCO precision oncology · 2026Article
- Epigenetic Compound Library Screen Identifies Ibrutinib as an Inhibitor of Ovarian Clear Cell Carcinoma Viability.Cancer medicine · 2026Article
- Molecular profile and targeted therapies for ovarian clear cell ovarian cancer.Therapeutic advances in medical oncology · 2026Review
- Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.Scientific reports · 2025Article
- The -124C>T Mutation of theCurrent oncology (Toronto, Ont.) · 2025Article
- Article
- Telomeres, telomerase, and cancer: mechanisms, biomarkers, and therapeutics.Experimental hematology & oncology · 2025Review
- Molecular profiling reveals novel therapeutic targets and clonal evolution in ovarian clear cell carcinoma.BMC cancer · 2024Article
- The Acute Toxicity and Cardiotoxic Effects of Protocatechuic Aldehyde on Juvenile Zebrafish.Toxics · 2024Article
- Telomere length as a predictor of therapy response and survival in patients diagnosed with ovarian carcinoma.Heliyon · 2024Article
- Shedding Light on the Interaction Between Rif1 and Telomeres in Ovarian Cancer.Aging and disease · 2024Review
- Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.NPJ precision oncology · 2024Article
- Molecular Testing in Ovarian Tumours: Challenges from the Pathologist's Perspective.Diagnostics (Basel, Switzerland) · 2023Review
- Conserved features of TERT promoter duplications reveal an activation mechanism that mimics hotspot mutations in cancer.Nature communications · 2022Article
- Deep Infiltrating Endometriosis Malignant Invasion of Cervical Wall and Rectal Wall With Lynch Syndrome: A Rare Case Report and Review of Literature.Frontiers in oncology · 2022Review
- Platinum-resistant ovarian cancer: From drug resistance mechanisms to liquid biopsy-based biomarkers for disease management.Seminars in cancer biology · 2021Review
- Recurrent urothelial carcinoma-like FGFR3 genomic alterations in malignant Brenner tumors of the ovary.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.NPJ breast cancer · 2021Article
- What Is New on Ovarian Carcinoma: Integrated Morphologic and Molecular Analysis Following the New 2020 World Health Organization Classification of Female Genital Tumors.Diagnostics (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
10 authors at 9 institutions in 5 countries.
Funding
Abstract
Up-regulated expression of telomerase reverse transcriptase (TERT) and subsequent maintenance of telomere length are essential in tumour development. Recent studies have implicated somatic gain-of-function mutations at the TERT promoter as one of the mechanisms that promote transcriptional activation of TERT; however, it remains unclear whether this genetic abnormality is prevalent in gynaecological neoplasms. We performed mutational analysis in a total of 525 gynaecological cancers, and correlated TERT promoter mutations with clinicopathological features. With the exception of ovarian clear cell carcinomas, in which mutations were found in 37 (15.9%) of 233 cases, the majority of gynaecological malignancies were wild-type. TERT promoter mutation does not appear to be an early event during oncogenesis, as it was not detected in the contiguous endometriosis associated with ovarian clear cell carcinoma. Ovarian clear cell carcinoma cell lines with TERT promoter mutations exhibited higher TERT mRNA expression than those with wild-type sequences (p = 0.0238). TERT promoter mutation tended to be mutually exclusive with loss of ARID1A protein expression (p = 4.4 × 10(-9) ) and PIK3CA mutation (p = 0.0019) in ovarian clear cell carcinomas. No associations with disease-specific survival were observed for ovarian clear cell carcinoma. The above results, in conjunction with our previous report showing longer telomeres in ovarian clear cell carcinomas relative to other types of ovarian cancer, suggests that aberrations in telomere biology may play an important role in the pathogenesis of ovarian clear cell carcinoma.
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