ArticleScientific reports2020
Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers.
Article in Scientific reports, 2020. 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, 52 citations in OpenAlex.
- Emergence of KRAS mosaicism with multiple variants during treatment with alectinib in ALK-positive metastatic non-small cell lung cancer: A case report.Oncology letters · 2026Article
- The germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.Cancer letters · 2026Article
- Instability in Pentanucleotide Markers in a Subset of Microsatellite Instability-High Colorectal Cancer.Current oncology (Toronto, Ont.) · 2026Article
- Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.Targeted oncology · 2026Article
- Evaluation of the Idylla IDH1-2 Mutation Assay for the Detection ofInternational journal of molecular sciences · 2026Article
- Instability in the Penta-C and Penta-D Loci in Microsatellite-Unstable Endometrial Cancer.International journal of environmental research and public health · 2025Article
- Mismatch Repair Deficiency and the Role of Non-Canonical Functions in Cancer: Diagnosis and Therapeutic Implications.International journal of molecular sciences · 2025Review
- Clinical Utility of Targeted Next-Generation Sequencing for Determining Human Epidermal Growth Factor Receptor 2 Status and Optimizing Targeted Therapy in Breast Cancer.World journal of oncology · 2025Article
- Article
- Geographic and age-related variations in mutational processes in colorectal cancer.medRxiv : the preprint server for health sciences · 2025Article
- MSI-H Detection by ddPCR in Endoscopic Ultrasound Fine Needle Biopsy (EUS-FNB) from Pancreatic Ductal Adenocarcinoma.International journal of molecular sciences · 2024Article
- The new 2023 FIGO staging system for endometrial cancer: what is different from the previous 2009 FIGO staging system?Journal of gynecologic oncology · 2024Article
- Evolving Management of Breast Cancer in the Era of Predictive Biomarkers and Precision Medicine.Journal of personalized medicine · 2024Review
- Detection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy.Cancer gene therapy · 2024Article
- Article
- Predictive Value of Magnetic Resonance Imaging in Risk Stratification and Molecular Classification of Endometrial Cancer.Cancers · 2024Article
- Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS).Biomedicines · 2023Article
- Targeted molecular profiling of solid tumours-Indian tertiary cancer centre experience.Journal of cancer research and clinical oncology · 2023Article
- Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.The EPMA journal · 2023Review
- Deep learning image analysis quantifies tumor heterogeneity and identifies microsatellite instability in colon cancer.Journal of surgical oncology · 2023Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microsatellite instability (MSI) status is routinely assessed in patients with colorectal and endometrial cancers as it contributes to Lynch syndrome initial screening, tumour prognosis and selecting patients for immunotherapy. Currently, standard reference methods recommended for MSI/dMMR (deficient MisMatch Repair) testing consist of immunohistochemistry and pentaplex PCR-based assays, however, novel molecular-based techniques are emerging. Here, we aimed to evaluate the performance of a custom capture-based NGS method and the Bio-Rad ddPCR and Idylla approaches for the determination of MSI status for theranostic purposes in 30 formalin-fixed paraffin embedded (FFPE) tissue samples from patients with endometrial (n = 15) and colorectal (n = 15) cancers. All samples were previously characterised using IHC and Promega MSI Analysis System and these assays set as golden standard. Overall agreement, sensitivity and specificity of our custom-built NGS panel were 93.30%, 93.75% and 92.86% respectively. Overall agreement, sensitivity and specificity were 100% with the Idylla MSI system. The Bio-Rad ddPCR MSI assay showed a 100% concordance, sensitivity and specificity. The custom capture-based NGS, Bio-Rad ddPCR and Idylla approaches represent viable and complementary options to IHC and Promega MSI Analysis System for the detection of MSI. Bio-Rad ddPCR and Idylla MSI assays accounts for easy and fast screening assays while the NGS approach offers the advantages to simultaneously detect MSI and clinically relevant genomic alterations.
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