ArticleJournal of translational medicine2018
Accuracy of four mononucleotide-repeat markers for the identification of DNA mismatch-repair deficiency in solid tumors.
Article in Journal of translational medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 26 citations in OpenAlex.
- Validation of a liquid biopsy assay with increased sensitivity for clinical comprehensive genomic profiling.The journal of liquid biopsy · 2025Article
- Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers.Frontiers in immunology · 2025Article
- Concordance between immunohistochemistry and MSI analysis for detection of MMR/MSI status in colorectal cancer patients.Diagnostic pathology · 2024Article
- Comprehensive analysis of gene mutations and mismatch repair in Chinese colorectal cancer patients.World journal of gastrointestinal oncology · 2024Article
- Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.The EPMA journal · 2023Review
- Microsatellite Instability Analysis (MSA) for Bladder Cancer: Past History and Future Directions.International journal of molecular sciences · 2021Review
- Clinical and epigenetic features of colorectal cancer patients with somatic POLE proofreading mutations.Clinical epigenetics · 2021Article
- Experimental and Meta-Analytic Validation of RNA Sequencing Signatures for Predicting Status of Microsatellite Instability.Frontiers in molecular biosciences · 2021Article
- Molecular Mechanisms of Colon Cancer Progression and Metastasis: Recent Insights and Advancements.International journal of molecular sciences · 2020Review
- Upregulation of microRNA-31 is associated with poor prognosis in patients with advanced colorectal cancer.Oncology letters · 2020Article
- Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.Frontiers in oncology · 2020Article
- Microsatellite instability and immune checkpoint inhibitors: toward precision medicine against gastrointestinal and hepatobiliary cancers.Journal of gastroenterology · 2020Review
- Clinicopathologic features and prognostic value of KRAS, NRAS and BRAF mutations and DNA mismatch repair status: A single-center retrospective study of 1,834 Chinese patients with Stage I-IV colorectal cancer.International journal of cancer · 2019Article
- PD-L1 expression combined with microsatellite instability/CD8+ tumor infiltrating lymphocytes as a useful prognostic biomarker in gastric cancer.Scientific reports · 2019Article
- Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.Journal of Cancer · 2019Review
- Molecular and Computational Methods for the Detection of Microsatellite Instability in Cancer.Frontiers in oncology · 2018Review
- Clinical impact of endometrial cancer stratified by genetic mutational profiles, POLE mutation, and microsatellite instability.PloS one · 2018Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundTo screen tumors with microsatellite instability (MSI) arising due to DNA mismatch repair deficiency (dMMR), a panel of five quasi-monomorphic mononucleotide-repeat markers amplified in a multiplex PCR (Pentaplex) are commonly used. In spite of its several strengths, the pentaplex assay is not robust at detecting the loss of MSH6-deficiency (dMSH6). In order to overcome this challenge, we designed this study to develop and optimize a panel of four quasi-monomorphic mononucleotide-repeat markers (Tetraplex) for identifying solid tumors with dMMR, especially dMSH6.
methodsTo improve the sensitivity for tumors with dMMR, we established a quasi-monomorphic variant range (QMVR) of 3-4 bp for the four Tetraplex markers. Thereafter, to confirm the accuracy of this assay, we examined 317 colorectal cancer (CRC) specimens, comprising of 105 dMMR [45 MutL homolog (MLH)1-deficient, 45 MutS protein homolog (MSH)2-deficient, and 15 MSH6-deficient tumors] and 212 MMR-proficient (pMMR) tumors as a test set. In addition, we analyzed a cohort of 138 endometrial cancers (EC) by immunohistochemistry to determine MMR protein expression and validation of our new MSI assay.
resultsUsing the criteria of ≥ 1 unstable markers as MSI-positive tumor, our assay resulted in a sensitivity of 97.1% [95% confidence interval (CI) = 91.9-99.0%] for dMMR, and a specificity of 95.3% (95% CI = 91.5-97.4%) for pMMR CRC specimens. Among the 138 EC specimens, 41 were dMMR according to immunohistochemistry. Herein, our Tetraplex assay detected dMMR tumors with a sensitivity of 92.7% (95% CI = 80.6-97.5%) and a specificity of 97.9% (95% CI = 92.8-99.4%) for pMMR tumors. With respect to tumors with dMSH6, in the CRC-validation set, Tetraplex detected dMSH6 tumors with a sensitivity of 86.7% (13 of 15 dMSH6 CRCs), which was subsequently validated in the EC test set as well (sensitivity, 75.0%; 6 of 8 dMSH6 ECs).
conclusionsOur newly optimized Tetraplex system will help offer a robust and highly sensitive assay for the identification of dMMR in solid tumors.
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