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

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

Autor: Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, Klaus Oberhuber, Hendrik Gottschling, Simon Schnaiter, Nicolaus Friedrichs, Sabine Merkelbach-Bruse, Johannes Zschocke, Richard Gallon, Katharina Wimmer

Publikováno v: Biomolecules, Vol 12, Iss 10, p 1350 (2022)

Colorectal cancer (CRC) in adolescents and young adults (AYA) is very rare. Known predisposition syndromes include Lynch syndrome (LS) due to highly penetrant MLH1 and MSH2 alleles, familial adenomatous polyposis (FAP), constitutional mismatch-repair

Externí odkaz: https://doaj.org/article/337cc4e8d5b0408a9c929a8731c0e320

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis

Autor: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh

Publikováno v: Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins

PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2c

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

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

Autor: Victoria K. Tesch, Hanna IJspeert, Andrea Raicht, Daniel Rueda, Nerea Dominguez-Pinilla, Luis M. Allende, Chrystelle Colas, Thorsten Rosenbaum, Denisa Ilencikova, Hagit N. Baris, Michaela H. M. Nathrath, Manon Suerink, Danuta Januszkiewicz-Lewandowska, Iman Ragab, Amedeo A. Azizi, Soeren S. Wenzel, Johannes Zschocke, Wolfgang Schwinger, Matthias Kloor, Claudia Blattmann, Laurence Brugieres, Mirjam van der Burg, Katharina Wimmer, Markus G. Seidel

Publikováno v: Frontiers in Immunology, Vol 9 (2018)

Immunoglobulin class-switch recombination (CSR) and somatic hypermutations (SHMs) are prerequisites for antibody and immunoglobulin receptor maturation and adaptive immune diversity. The mismatch repair (MMR) machinery, consisting of homologs of MutS

Externí odkaz: https://doaj.org/article/34b5e5ca683a46b5b6319eb07943d6d2