ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Pathogenic TERT promoter variants in telomere diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 57 citations in OpenAlex.
- Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.Haematologica · 2023Trial
- Investigation of telomere related gene mutations in idiopathic pulmonary fibrosis.Molecular biology reports · 2020Trial
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Promoter TERT-Related Hematopoietic Somatic Mosaicism in Patients With Telomere Biology Disorders.American journal of hematology · 2026Article
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders.The Journal of molecular diagnostics : JMD · 2026Article
- Article
- Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice.Journal of personalized medicine · 2026Review
- Adult male patients withERJ open research · 2026Article
- Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.Genome medicine · 2025Article
- Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.Blood · 2024Article
- HeterozygousGenes & development · 2024Article
- Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders.Current hematologic malignancy reports · 2024Review
- Pan-cancer experimental characteristic of human transcriptional patterns connected with telomerase reverse transcriptase (Frontiers in genetics · 2024Article
- Clonal evolution in inherited marrow failure syndromes predicts disease progression.Hematology. American Society of Hematology. Education Program · 2023Review
- The Genetic and Epigenetic Footprint in Idiopathic Pulmonary Fibrosis and Familial Pulmonary Fibrosis: A State-of-the-Art Review.Diagnostics (Basel, Switzerland) · 2022Review
- Tieing together loose ends: telomere instability in cancer and aging.Molecular oncology · 2022Review
- Clonal Hematopoiesis and Myeloid Neoplasms in the Context of Telomere Biology Disorders.Current hematologic malignancy reports · 2022Review
- Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.Blood · 2022Article
- Recent advances in understanding telomere diseases.Faculty reviews · 2022Review
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeThe acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes.
methodsWe screened patients with a broad spectrum of telomeropathies (n = 136), their relatives (n = 52), and controls (n = 195) for TERTp variants using a customized massively parallel amplicon-based sequencing assay.
resultsPathogenic -124 and -146 TERTp variants were identified in nine (7%) unrelated patients diagnosed with IPF (28%) or moderate aplastic anemia (4.6%); five of them also presented cirrhosis. Five (10%) relatives were also found with these variants, all harboring a pathogenic germline variant in telomere biology genes. TERTp clone selection did not associate with peripheral blood counts, telomere length, and response to danazol treatment. However, it was specific for patients with telomeropathies, more frequently co-occurring with TERT germline variants and associated with aging.
conclusionWe extend the spectrum of nonmalignant diseases associated with pathogenic TERTp variants to marrow failure and liver disease due to inherited telomerase deficiency. Specificity of pathogenic TERTp variants for telomerase dysfunction may help to assess the pathogenicity of unclear constitutional variants in the telomere diseases.
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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.