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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146943/
https://www.ncbi.nlm.nih.gov/pubmed/31494577
http://dx.doi.org/10.1136/jmedgenet-2019-106272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146943/
https://www.ncbi.nlm.nih.gov/pubmed/31494577
http://dx.doi.org/10.1136/jmedgenet-2019-106272

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