ArticleBMC cancer2019
Validation of computational determination of microsatellite status using whole exome sequencing data from colorectal cancer patients.
Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Inflammation and mutational burden differentially associated with nivolumab or ipilimumab combination efficacy in colorectal cancer.Nature communications · 2025Trial
- Co-Mutation of CREBBP/EP300 and POLE/POLD1 Identifies a TMB-High Subset of MSS CRC.International journal of molecular sciences · 2026Article
- Mutation enrichment in targeted panels flags immunotherapy-responsive POLE-driven hypermutated microsatellite-stable colorectal cancers.NPJ precision oncology · 2026Article
- Mutations in CREBBP and EP300 HAT and Bromo Domains Drive Hypermutation and Predict Survival in GI Cancers Treated with Immunotherapy.Biomedicines · 2025Article
- Elucidating the Role ofCancers · 2025Article
- A novel algorithm for the detection of microsatellite instability in endometrial cancer using next‑generation sequencing data.Oncology letters · 2025Article
- DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.Cell reports · 2024Article
- Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma.Cancer research communications · 2023Article
- Tumor monocyte content predicts immunochemotherapy outcomes in esophageal adenocarcinoma.Cancer cell · 2023Article
- Clinical predominance of whole-exome sequencing to evaluate microsatellite instability status.Cancer science · 2023Article
- Exome-Based Genomic Markers Could Improve Prediction of Checkpoint Inhibitor Efficacy Independently of Tumor Type.International journal of molecular sciences · 2023Article
- An absolute approach to using whole exome DNA and RNA workflow for cancer biomarker testing.Frontiers in oncology · 2023Article
- Assessment of Microsatellite Instability from Next-Generation Sequencing Data.Advances in experimental medicine and biology · 2022Article
- Hypermutated phenotype in gliosarcoma of the spinal cord.NPJ precision oncology · 2021Article
- Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.Pathology oncology research : POR · 2021Article
- Experimental and Meta-Analytic Validation of RNA Sequencing Signatures for Predicting Status of Microsatellite Instability.Frontiers in molecular biosciences · 2021Article
- FDA-Approved and Emerging Next Generation Predictive Biomarkers for Immune Checkpoint Inhibitors in Cancer Patients.Frontiers in oncology · 2021Review
- Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.BMC medical genomics · 2020Article
- High GLP1R gene copy numbers associated with microsatellite instability for multiple cancers and with better survival probabilities for glioblastoma.Cell cycle (Georgetown, Tex.)Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
backgroundMicrosatellite instability (MSI), resulting from a defective mismatch repair system, occurs in approximately 15% of sporadic colorectal cancers (CRC). Since MSI is associated with a poor response to 5-fluorouracile based chemotherapy and is a positive predictive marker of immunotherapy, it is routine practice to evaluate the MSI status of resected tumors in CRC patients. MSIsensor is a novel computational tool for determining MSI status using Next Generation Sequencing. However, it is not widely used in the clinic and has not been independently validated in exome data from CRC. To facilitate clinical implementation of computational determination of MSI status, we compared MSIsensor to current gold standard methods for MSI testing.
methodsMSI status was determined for 130 CRC patients (UICC stage I-IV) using immunohistochemistry, PCR based microsatellite stability testing and by applying MSIsensor to exome sequenced tumors and paired germline DNA. Furthermore, we investigated correlation between MSI status, mutational load and mutational signatures.
resultsEighteen out of 130 (13.8%) patients were microsatellite instable. We found a 100% agreement between MSIsensor and gold standard methods for MSI testing. All MSI tumors were hypermutated. In addition, two microsatellite stable (MSS) tumors were hypermutated, which was explained by a dominant POLE signature and pathogenic POLE mutations (p.Pro286Arg and p.Ser459Phe).
conclusionMSIsensor is a robust tool, which can be used to determine MSI status of tumor samples from exome sequenced CRC patients.
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