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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Bibliographic Details

Published in:	Frontiers in Oncology
Main Authors:	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
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-04-01
Subjects:	Lynch syndrome urothelial cancer universal testing mismatch repair deficiency immunohistochemistry microsatellite instability
Online Access:	https://www.frontiersin.org/articles/10.3389/fonc.2023.1147591/full