Article
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology - 1 Apr 2023
Gallon Richard, Phelps Rachel, Hayes Christine, Brugieres Laurence, Guerrini-Rousseau Léa, Colas Chrystelle, Muleris Martine, Ryan Neil A J, Evans D Gareth, Grice Hannah, Jessop Emily, Kunzemann-Martinez Annabel, Marshall Lilla, Schamschula Esther, Oberhuber Klaus, Azizi Amedeo A, Baris Feldman Hagit, Beilken Andreas, Brauer Nina, Brozou Triantafyllia, Dahan Karin, Demirsoy Ugur, Florkin Benoît, Foulkes William, Januszkiewicz-Lewandowska Danuta, Jones Kristi J, Kratz Christian P, Lobitz Stephan, Meade Julia, Nathrath Michaela, Pander Hans-Jürgen, Perne Claudia, Ragab Iman, Ripperger Tim, Rosenbaum Thorsten, Rueda Daniel, Sarosiek Tomasz, Sehested Astrid, Spier Isabel, Suerink Manon, Zimmermann Stefanie-Yvonne, Zschocke Johannes, Borthwick Gillian M, Wimmer Katharina, Burn John, Jackson Michael S, Santibanez-Koref Mauro
Abstract excerpt
BACKGROUND & AIMS: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hallmark and may associate with cancer risk. We quantified cMSI in a large CMMRD patient cohort to explore genotype-phenotype correlations using novel MSI markers...
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