High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

INTRODUCTION: Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim was to evaluate the...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: González-Acosta, Maribel, Marín, Fátima, Puliafito, Benjamin, Bonifaci, Nuria, Fernández, Anna, Navarro, Matilde, Salvador, Hector, Balaguer, Francesc, Iglesias, Silvia, Velasco, Angela, Grau Garces, Elia, Moreno, Victor, Gonzalez-Granado, Luis Ignacio, Guerra-García, Pilar, Ayala, Rosa, Florkin, Benoît, Kratz, Christian, Ripperger, Tim, Rosenbaum, Thorsten, Januszkiewicz-Lewandowska, Danuta, Azizi, Amedeo A, Ragab, Iman, Nathrath, Michaela, Pander, Hans-Jürgen, Lobitz, Stephan, Suerink, Manon, Dahan, Karin, Imschweiler, Thomas, Demirsoy, Ugur, Brunet, Joan, Lázaro, Conxi, Rueda, Daniel, Wimmer, Katharina, Capellá, Gabriel, Pineda, Marta
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2020
Fag:
Diagnostics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7146943/
https://ncbi.nlm.nih.gov/pubmed/31494577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106272
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