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Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors

INTRODUCTION: Lynch 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 guid...

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Detalles Bibliográficos
Autores principales: Rasmussen, Maria, Sowter, Peter, Gallon, Richard, Durhuus, Jon Ambæk, Hayes, Christine, Andersen, Ove, Nilbert, Mef, Schejbel, Lone, Høgdall, Estrid, Santibanez-Koref, Mauro, Jackson, Michael S., Burn, John, Therkildsen, Christina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151563/
https://www.ncbi.nlm.nih.gov/pubmed/37143941
http://dx.doi.org/10.3389/fonc.2023.1147591