High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects...
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
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Author / Creator
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 and Pineda, Marta
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
IntroductionLynch 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 performance of high-sensitivity MSI (hs-MSI) assessm...
Alternative Titles
Full title
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7146943
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7146943
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106272
