ArticleThe Journal of molecular diagnostics : JMD2009
Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.
Article in The Journal of molecular diagnostics : JMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.
- Genetic Variants in DNA Repair Pathways as Potential Biomarkers in Predicting Treatment Outcome of Intraperitoneal Chemotherapy in Patients With Colorectal Peritoneal Metastasis: A Systematic Review.Frontiers in pharmacology · 2020Pooled it
- Single-Cell Multi-Tissue T Cell Clonal Dynamics Reveal Distinct Immune Coercion Landscapes in MSI and MSS Colorectal Cancer.International journal of molecular sciences · 2026Article
- Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.The EPMA journal · 2023Review
- Article
- Microsatellite Instability: From the Implementation of the Detection to a Prognostic and Predictive Role in Cancers.International journal of molecular sciences · 2022Review
- Article
- Prevalence of Mismatch Repair-Deficient Colorectal Adenoma/Polyp in Early-Onset, Advanced Cases: a Cross-Sectional Study Based on Iranian Hereditary Colorectal Cancer Registry.Journal of gastrointestinal cancer · 2021Article
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- Complete Loss of EPCAM Immunoexpression IdentifiesCancers · 2020Article
- Homologous Recombination Repair Deficiency and the Immune Response in Breast Cancer: A Literature Review.Translational oncology · 2020Review
- Role of DNA repair defects in predicting immunotherapy response.Biomarker research · 2020Review
- Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.Balkan journal of medical genetics : BJMG · 2019Article
- Validation of computational determination of microsatellite status using whole exome sequencing data from colorectal cancer patients.BMC cancer · 2019Article
- Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.Frontiers in oncology · 2019Article
- Single-center study of Lynch syndrome screening in colorectal polyps.Hereditary cancer in clinical practice · 2019Article
- A Family of Rhodium Complexes with Selective Toxicity toward Mismatch Repair-Deficient Cancers.Journal of the American Chemical Society · 2018Article
- Mismatch repair deficiency commonly precedes adenoma formation in Lynch Syndrome-Associated colorectal tumorigenesis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Article
- Article
- Familial prostate cancer.Seminars in oncology · 2016Article
- Colorectal cancer in Crohn's colitis is comparable to sporadic colorectal cancer.International journal of colorectal disease · 2016Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Lynch syndrome is caused by germline mutations in DNA mismatch repair (MMR) genes. Both microsatellite instability (MSI) testing and immunohistochemical analyses (IHC) of colon cancers are valuable diagnostic strategies for Lynch syndrome. We sought to determine whether these markers of MMR deficiency were also detectable in pre-cancerous colorectal adenomas. Fifteen subjects with a germline MMR gene mutation who had 44 adenomas removed during surveillance colonoscopy were identified. MSI testing and IHC for MLH1, MSH2, and MSH6 were performed. MSI was detected in 23 adenomas. There was a significant association between MSI and high-grade dysplasia (P = 0.006) and distal location (P = 0.0008). Loss of MMR protein by IHC was detected in 31 adenomas. A significant association was observed between loss of staining by IHC and high-grade dysplasia (P = 0.04). Among the 40 adenomas in which both MSI tests and IHC were performed, the presence of a germline mutation correlated with an abnormal MSI result in 58% of cases, an abnormal IHC result in 70% of cases, and either an abnormal MSI or IHC result in 73% of cases. The combination of MSI and IHC testing in colorectal adenomas is a sensitive screen for the detection of Lynch syndrome and may be particularly useful when Lynch syndrome is suspected and adenomatous polyps are the only tissues available for analysis.
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Registered trials
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