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Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors

IntroductionLynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 or PMS2. Somatic second hits in tumors cause MMR deficiency, testing for which is used to screen for Lynch syndrome in colorectal cancer and to guide...

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Autori principali: Maria Rasmussen, Peter Sowter, Richard Gallon, Jon Ambæk Durhuus, Christine Hayes, Ove Andersen, Mef Nilbert, Lone Schejbel, Estrid Høgdall, Mauro Santibanez-Koref, Michael S. Jackson, John Burn, Christina Therkildsen
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2023-04-01
Serie:Frontiers in Oncology
Soggetti:
Lynch syndrome
urothelial cancer
universal testing
mismatch repair deficiency
immunohistochemistry
microsatellite instability
Accesso online:https://www.frontiersin.org/articles/10.3389/fonc.2023.1147591/full
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