Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas: a report of the association for molecular pathology.
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Summary
It is recommended that new CRCs should be classified into sporadic MMR-proficient, sporadic dMMR, or Lynch d MMR subgroups, and the concurrent use of MSI testing, MMR protein IHC, and BRAF c.1799T>A mutation analysis would detect almost all dMMr CRCs, which would increase detection of inherited and de novo germline mutations to guide family screening.
- Type
- article
- Published
- 2012-03-01
- Cited by
- 188
- References
- 138
- OpenAlex
- https://openalex.org/W31576990
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:24381570
Keywords
Lynch syndrome, Microsatellite instability, DNA mismatch repair, Penetrance, Colorectal cancer
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- Adenomatous Polyposis Coli, mismatch repair, and microsatellite instability in colorectal cancer based on different locations.
- Combination of microsatellite instability and BRAF mutation status for subtyping colorectal cancer
- Improved Detection of Microsatellite Instability in Early Colorectal Lesions
- Molecular Pathological Epidemiology Gives Clues to Paradoxical Findings
- DNA mismatch repair defects and microsatellite instability status in periocular sebaceous carcinoma.
- Discovery of Colorectal Cancer PIK3CA Mutation as Potential Predictive Biomarker: Power and Promise of Molecular Pathological Epidemiology
- BRAF mutation in sporadic colorectal cancer and Lynch syndrome
- Molecular diagnostics in colorectal carcinoma.
- SMO Expression in Colorectal Cancer: Associations with Clinical, Pathological and Molecular Features
- Immunohistochemistry in Gastroenterohepatopancreatobiliary Epithelial Neoplasia: Practical Applications, Pitfalls, and Emerging Markers.
- Aspirin Use and Risk of Colorectal Cancer According to BRAF Mutation Status
- Prospective validation of the microsatellite instability prediction models: RERtest6 and RERtest8
- Mismatch repair protein immunohistochemistry: a useful population screening strategy for Lynch syndrome.
- Contributions of molecular analysis to the diagnosis and treatment of gastrointestinal neoplasms.
- DNA repair genes and prognosis in sporadic forms of urothelial carcinoma of the upper urinary tract.
- Systematic Study on Genetic and Epimutational Profile of a Cohort of Amsterdam Criteria-Defined Lynch Syndrome in Singapore
- Hereditary colorectal cancer: more common than you think.
- Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach.
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