High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Maribel González-AcostaFátima MarínBenjamin PuliafitoNuria BonifaciAnna FernándezMatilde NavarroHector SalvadorFrancesc BalaguerSilvia IglesiasAngela VelascoElia Grau GarcesVictor MorenoLuis Ignacio Gonzalez-GranadoPilar Guerra-GarcíaRosa AyalaBenoît FlorkinChristian KratzTim RippergerThorsten RosenbaumDanuta Januszkiewicz-LewandowskaAmedeo A AziziIman RagabMichaela NathrathHans-Jürgen PanderStephan LobitzManon SuerinkKarin DahanThomas ImschweilerUgur DemirsoyJoan BrunetConxi LázaroDaniel RuedaKatharina WimmerGabriel Capellá MunarMarta PinedaPublished in: Journal of medical genetics (2019)
The hs-MSI approach is a valuable tool for CMMRD diagnosis, especially in suspected patients harbouring MMR variants of unknown significance or non-detected biallelic germline mutations.
Keyphrases
- end stage renal disease
- newly diagnosed
- intellectual disability
- chronic kidney disease
- dna repair
- peritoneal dialysis
- pulmonary embolism
- prognostic factors
- gene expression
- dna damage
- autism spectrum disorder
- patient reported outcomes
- patient reported
- dna methylation
- real time pcr
- genetic diversity
- clinical evaluation