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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2020
Assuntos:
Diagnostics
Acesso em linha: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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