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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Published in: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
Language:Inglês
Published: BMJ Publishing Group 2020
Subjects:
Diagnostics
Online Access: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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