Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

Autor: Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer

Publikováno v: npj Precision Oncology, Vol 8, Iss 1, Pp 1-11 (2024)

Abstract Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct cancer syndromes caused, respectively, by mono- and bi-allelic germline mismatch repair (MMR) variants. LS predisposes to mainly gastrointestinal and geni

Externí odkaz: https://doaj.org/article/83e046eaecc544efb2837b8929640ea0

Array genotyping as diagnostic approach in medical genetics

Autor: Martina Witsch‐Baumgartner, Gunda Schwaninger, Simon Schnaiter, Franziska Kollmann, Silja Burkhard, Rebekka Gröbner, Beatrix Mühlegger, Esther Schamschula, Peter Kirchmeier, Johannes Zschocke

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)

Abstract Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Glob

Externí odkaz: https://doaj.org/article/a15db9766a984e829502ac81c1ac0481

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Autor: Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Chrystelle Colas, Martine Muleris, Neil A.J. Ryan, D. Gareth Evans, Hannah Grice, Emily Jessop, Annabel Kunzemann-Martinez, Lilla Marshall, Esther Schamschula, Klaus Oberhuber, Amedeo A. Azizi, Hagit Baris Feldman, Andreas Beilken, Nina Brauer, Triantafyllia Brozou, Karin Dahan, Ugur Demirsoy, Benoît Florkin, William Foulkes, Danuta Januszkiewicz-Lewandowska, Kristi J. Jones, Christian P. Kratz, Stephan Lobitz, Julia Meade, Michaela Nathrath, Hans-Jürgen Pander, Claudia Perne, Iman Ragab, Tim Ripperger, Thorsten Rosenbaum, Daniel Rueda, Tomasz Sarosiek, Astrid Sehested, Isabel Spier, Manon Suerink, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M. Borthwick, Katharina Wimmer, John Burn, Michael S. Jackson, Mauro Santibanez-Koref

Publikováno v: Gallon, R, Phelps, R, Hayes, C, Brugieres, L, Guerrini-Rousseau, L, Colas, C, Muleris, M, Ryan, N A J, Evans, D G, Grice, H, Jessop, E, Kunzemann-Martinez, A, Marshall, L, Schamschula, E, Oberhuber, K, Azizi, A A, Baris Feldman, H, Beilken, A, Brauer, N, Brozou, T, Dahan, K, Demirsoy, U, Florkin, B, Foulkes, W, Januszkiewicz-Lewandowska, D, Jones, K J, Kratz, C P, Lobitz, S, Meade, J, Nathrath, M, Pander, H-J, Perne, C, Ragab, I, Ripperger, T, Rosenbaum, T, Rueda, D, Sarosiek, T, Sehested, A, Spier, I, Suerink, M, Zimmermann, S-Y, Zschocke, J, Borthwick, G M, Wimmer, K, Burn, J, Jackson, M S & Santibanez-Koref, M 2023, ' Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency ', Gastroenterology, vol. 164, no. 4, pp. 579-592.e8 . https://doi.org/10.1053/j.gastro.2022.12.017

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 hall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76ee
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf