ArticleThe Journal of pathology2012
A robust genomic signature for the detection of colorectal cancer patients with microsatellite instability phenotype and high mutation frequency.
Article in The Journal of pathology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Rate of dissemination and prognosis in early and advanced stage colorectal cancer based on microsatellite instability status: systematic review and meta-analysis.International journal of colorectal disease · 2021Pooled it
- Trial
- RAS/BRAF wild-type metastatic high-methylated colorectal cancer has gene expression patterns related to MSI-H and BRAF V600E mutant: a translational research.Scientific reports · 2026Article
- The Hallmarks of Predictive Oncology.Cancer discovery · 2025Article
- Molecular Markers of Response to Anti-PD1 Therapy in Advanced Hepatocellular Carcinoma.Gastroenterology · 2023Article
- The Kynurenine Pathway and Cancer: Why Keep It Simple When You Can Make It Complicated.Cancers · 2022Review
- The Evolving Role of Consensus Molecular Subtypes: a Step Beyond Inpatient Selection for Treatment of Colorectal Cancer.Current treatment options in oncology · 2021Review
- Article
- Global Pattern of CD8Frontiers in pharmacology · 2021Article
- In-depth Clinical and Biological Exploration of DNA Damage Immune Response as a Biomarker for Oxaliplatin Use in Colorectal Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Molecular subtypes and the evolution of treatment management in metastatic colorectal cancer.Therapeutic advances in medical oncology · 2020Review
- Current Update of Laboratory Molecular Diagnostics Advancement in Management of Colorectal Cancer (CRC).Diagnostics (Basel, Switzerland) · 2019Review
- A qualitative transcriptional signature for predicting microsatellite instability status of right-sided Colon Cancer.BMC genomics · 2019Article
- Patient-Derived Xenografts and Matched Cell Lines Identify Pharmacogenomic Vulnerabilities in Colorectal Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Evolving neoantigen profiles in colorectal cancers with DNA repair defects.Genome medicine · 2019Article
- Cross-platform Data Analysis Reveals a Generic Gene Expression Signature for Microsatellite Instability in Colorectal Cancer.BioMed research international · 2019Article
- A novel 4-gene prognostic signature for hypermutated colorectal cancer.Cancer management and research · 2019Article
- Implication of Microsatellite Instability Pathway in Outcome of Colon Cancer in Moroccan Population.Disease markers · 2019Article
- Are Colon and Rectal Cancer Two Different Tumor Entities? A Proposal to Abandon the Term Colorectal Cancer.International journal of molecular sciences · 2018Review
- Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microsatellite instability (MSI) occurs in 10-20% of colorectal tumours and is associated with good prognosis. Here we describe the development and validation of a genomic signature that identifies colorectal cancer patients with MSI caused by DNA mismatch repair deficiency with high accuracy. Microsatellite status for 276 stage II and III colorectal tumours has been determined. Full-genome expression data was used to identify genes that correlate with MSI status. A subset of these samples (n = 73) had sequencing data for 615 genes available. An MSI gene signature of 64 genes was developed and validated in two independent validation sets: the first consisting of frozen samples from 132 stage II patients; and the second consisting of FFPE samples from the PETACC-3 trial (n = 625). The 64-gene MSI signature identified MSI patients in the first validation set with a sensitivity of 90.3% and an overall accuracy of 84.8%, with an AUC of 0.942 (95% CI, 0.888-0.975). In the second validation, the signature also showed excellent performance, with a sensitivity 94.3% and an overall accuracy of 90.6%, with an AUC of 0.965 (95% CI, 0.943-0.988). Besides correct identification of MSI patients, the gene signature identified a group of MSI-like patients that were MSS by standard assessment but MSI by signature assessment. The MSI-signature could be linked to a deficient MMR phenotype, as both MSI and MSI-like patients showed a high mutation frequency (8.2% and 6.4% of 615 genes assayed, respectively) as compared to patients classified as MSS (1.6% mutation frequency). The MSI signature showed prognostic power in stage II patients (n = 215) with a hazard ratio of 0.252 (p = 0.0145). Patients with an MSI-like phenotype had also an improved survival when compared to MSS patients. The MSI signature was translated to a diagnostic microarray and technically and clinically validated in FFPE and frozen samples.
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