ArticleThe Journal of molecular diagnostics : JMD2019
Development of Novel Mutation-Specific Droplet Digital PCR Assays Detecting TERT Promoter Mutations in Tumor and Plasma Samples.
Article in The Journal of molecular diagnostics : JMD, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 63 citations in OpenAlex.
- Standardized Analytical Verification of ctDNA ESR1 Mutation Testing in Metastatic HR+/HER2- Breast Cancer: A European Multicentre Study Using dPCR and NGS-Based Liquid Biopsy.Molecular diagnosis & therapy · 2026Article
- Validation of MyHPVscore: A High-Performance Human Papillomavirus Circulating Tumor DNA Laboratory-Developed Test.The Journal of molecular diagnostics : JMD · 2026Article
- Detection of TERT Promoter Mutations in Papillary Thyroid Carcinoma Using Droplet Digital PCR and Their Association with Aggressive Tumor Features.International journal of molecular sciences · 2026Article
- Adult male patients withERJ open research · 2026Article
- Optimized digital polymerase chain reaction enables detection of telomerase reverse transcriptase C228T mutation for prognostic assessment in hepatocellular carcinoma.World journal of gastrointestinal oncology · 2025Article
- Rapid intraoperative genetic analysis of adult-type diffuse gliomas using a microfluidic real-time polymerase chain reaction device.Neuro-oncology · 2025Article
- Serially Quantifying TERT Rearrangement Breakpoints in ctDNA Enables Minimal Residual Disease Monitoring in Patients with Neuroblastoma.Cancer research communications · 2025Article
- Review
- Liquid biopsy: creating opportunities in brain space.British journal of cancer · 2023Review
- Article
- Facilitation of Definitive Cancer Diagnosis With Quantitative Molecular Assays of BRAF V600E and TERT Promoter Variants in Patients With Thyroid Nodules.JAMA network open · 2023Article
- Validation of a Droplet Digital PCR (ddPCR) Assay to Detect Cyanobacterial 16S rDNA in Human Lung Tissue.Toxics · 2023Article
- Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Minimal residual disease (MRD) detection in solid tumors using circulating tumor DNA: a systematic review.Frontiers in genetics · 2023Review
- Pitfalls and Rewards of Setting Up a Liquid Biopsy Approach for the Detection of Driver Mutations in Circulating Tumor DNAs: Our Institutional Experience.Journal of personalized medicine · 2022Article
- Associations between TERT Promoter Mutations and Survival in Superficial Spreading and Nodular Melanomas in a Large Prospective Patient Cohort.The Journal of investigative dermatology · 2022Article
- Highly Sensitive EGFRvIII Detection in Circulating Extracellular Vesicle RNA of Glioma Patients.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas.Acta neuropathologica communications · 2022Article
- Anchored Multiplex PCR Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.Frontiers in oncology · 2022Article
- Detecting Liquid Remnants of Solid Tumors: Circulating Tumor DNA Minimal Residual Disease.Cancer discovery · 2021Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Detecting mutations in the plasma of patients with solid tumors is becoming a valuable method of diagnosing and monitoring cancer. The TERT promoter is mutated at high frequencies in multiple cancer types, most commonly at positions -124 and -146 (designated C228T and C250T, respectively). Detection of these mutations has been challenging because of the high GC content of this region (approximately 80%). We describe development of novel probe-based droplet digital PCR assays that specifically detect and quantify these two mutations, along with the less common 242-243 CC>TT mutation, and demonstrate their application using human tumor and plasma samples from melanoma patients. Assay designs and running conditions were optimized using cancer cell line genomic DNAs with the C228T or C250T mutations. The limits of detection were 0.062% and 0.051% mutant allele fraction for the C228T and C250T assays, respectively. Concordance of 100% was observed between droplet digital PCR and sequencing-based orthogonal methods in the detection of TERT mutant DNA in 32 formalin-fixed, paraffin-embedded melanoma tumors. TERT
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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.