ArticleThe Journal of molecular diagnostics : JMD2008
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing.
Article in The Journal of molecular diagnostics : JMD, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 3 of them syntheses that pooled it.
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Who cites it
98 citing papers in PubMed, 3 syntheses or guidelines pooled it, 211 citations in OpenAlex.
- EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours.European journal of human genetics : EJHG · 2026Guideline
- Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.Familial cancer · 2021Pooled it
- Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Pooled it
- Serplulimab, a novel anti-PD-1 antibody, in patients with microsatellite instability-high solid tumours: an open-label, single-arm, multicentre, phase II trial.British journal of cancer · 2022Trial
- Nivolumab Is Effective in Mismatch Repair-Deficient Noncolorectal Cancers: Results From Arm Z1D-A Subprotocol of the NCI-MATCH (EAY131) Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Trial
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- Comparative predictive value of immunotherapy biomarkers: a systematic review and network meta-analysis.International journal of surgery (London, England) · 2026Article
- Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.Human mutation · 2026Article
- Prostate Cancer Risk and DNA Mismatch Repair Deficiency Among Lynch Syndrome Patients.European urology open science · 2026Article
- Integrative analysis of bulk and single-cell sequencing reveals TNFSF9 as a potential regulator in microsatellite instability stomach adenocarcinoma.European journal of medical research · 2025Article
- Comparative Analysis of Next-Generation Sequencing and Immunohistochemistry in MSI/MMR Testing.Turk patoloji dergisi · 2025Article
- Prevalence of Mismatch Repair Deficiency in Advanced Solid Tumors (Colorectal Cancer and Non-Colorectal Cancer) in One Mexican Institution.Journal of personalized medicine · 2024Article
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- Genomic Alterations in DNA Mismatch Repair Genes Across Different Cancer Types.JCO precision oncology · 2024Article
- Head-to-head comparative study: evaluating three panels for MSI-PCR testing in patients with colorectal and gastric cancer.Journal of clinical pathology · 2024Article
- Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.Cancer · 2024Review
- Comparison of immediate germline sequencing and multi-step screening for Lynch syndrome detection in high-risk endometrial and colorectal cancer patients.Journal of gynecologic oncology · 2024Article
- A novel colorectal cancer test combining microsatellite instability andBJC reports · 2024Article
- Immune Checkpoint Inhibitors in pMMR/MSS Colorectal Cancer.Journal of gastrointestinal cancer · 2023Review
38 more citing papers are in PubMed but not listed here.
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1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in the mismatch repair genes mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2), MSH6, and postmeiotic segregation increased 2 (PMS2) lead to the development of hereditary nonpolyposis colorectal cancer (HNPCC). Diagnosis of HNPCC relies on the compilation of a thorough family history of cancer, documentation of pathological findings, tumor testing for microsatellite instability (MSI) and immunohistochemistry (IHC), and germline mutation analysis of the suspected genes. As a hallmark of HNPCC, microsatellite instability is widely accepted as a primary method for identifying individuals at risk for HNPCC. It serves as an excellent, easy-to-evaluate marker of mismatch repair deficiency. Recent improvements in MSI testing have significantly enhanced the accuracy and reduced its cost. Proficiency testing for MSI is available, and laboratory-to-laboratory reproducibility of such testing can be easily evaluated. In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes. In this article, we discuss the development of MSI markers used for HNPCC screening and focus on the advantages and disadvantages of MSI testing in screening for HNPCC patients. We conclude that MSI is as sensitive and specific as IHC, given its excellent reproducibility and its potential capability to indicate mutations not be detected by IHC. MSI has been used and will continue to prevail as the primary screening tool for identifying HNPCC patients.
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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.