ArticleThe Journal of molecular diagnostics : JMD2007
Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer.
Article in The Journal of molecular diagnostics : JMD, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- Molecular Biomarkers for the Evaluation of Colorectal Cancer.American journal of clinical pathology · 2017Guideline
- Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.The Journal of molecular diagnostics : JMD · 2017Guideline
- Review
- The Clinical Outcomes Among Patients Under 60 Years Old with Lynch Syndrome: Variations Based on Different Mutation Patterns.International journal of molecular sciences · 2025Review
- Single-cell AI-based detection and prognostic and predictive value of DNA mismatch repair deficiency in colorectal cancer.Cell reports. Medicine · 2024Article
- Oncological characteristics, treatments and prognostic outcomes in MMR-deficient colorectal cancer.Biomarker research · 2024Review
- Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.Cancer · 2024Review
- The Importance of Immunohistochemical Heterogeneous Expression of MMR Protein in Patients with Colorectal Cancer in Stage II and III of the Disease.Medicina (Kaunas, Lithuania) · 2023Article
- Challenges and Therapeutic Opportunities in the dMMR/MSI-H Colorectal Cancer Landscape.Cancers · 2023Review
- Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.The Journal of molecular diagnostics : JMD · 2023Article
- Article
- Molecular and Circulating Biomarkers in Patients with Glioblastoma.International journal of molecular sciences · 2022Review
- Microsatellite Status Detection in Gastrointestinal Cancers: PCR/NGS Is Mandatory in Negative/Patchy MMR Immunohistochemistry.Cancers · 2022Article
- An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes.Frontiers in oncology · 2022Article
- Review
- Rare Occurrence of Microsatellite Instability in Gastrointestinal Stromal Tumors.Medicina (Kaunas, Lithuania) · 2021Article
- Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer.Scientific reports · 2021Article
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- Evaluating Mismatch Repair/Microsatellite Instability Status Using Cytology Effusion Specimens to Determine Eligibility for Immunotherapy.Archives of pathology & laboratory medicine · 2021Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to determine the frequency of microsatellite instability (MSI(+)) in tumors from a population-based series of young colorectal cancer patients and its correlation with the loss of expression of mismatch repair (MMR) proteins. The BAT-26 mononucleotide repeat was used to screen for MSI(+) in all colorectal cancers diagnosed in Western Australia throughout a 5-year period in patients <60 years of age. MSI(+) was found in 75 of 1003 (7.5%) cases, of which six contained a concomitant mutation in BRAF and were therefore excluded from further investigations as possible hereditary nonpolyposis colorectal cancer. Immunohistochemistry was used to evaluate expression of the four major MMR proteins (MLH1, MSH2, MSH6, and PMS2) in the remaining 69 MSI(+) tumors. Complete loss of MLH1 and PMS2 expression or of MSH2 and MSH6 expression was found in 35 (51%) and 17 (25%) cases, respectively, whereas other patterns of complete loss were observed in eight cases (12%). Eight tumors (12%) were initially recorded as showing normal expression, but on review seven were reclassified as having abnormal staining because of heterogeneous patterns of MMR loss. Three of these seven cases had previously been found to have germline mutations. Because of possible misinterpretation of heterogeneous immunohistochemistry staining for MMR protein loss, MSI testing is recommended as the initial screen for population-based detection of hereditary nonpolyposis colorectal cancer.
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