Profound and sustained response with next-generation ALK inhibitors in patients with relapsed or progressive ALK-positive anaplastic large cell lymphoma with central nervous system involvement

Autor: Charlotte Rigaud, Samuel Abbou, Stephane Ducassou, Mathieu Simonin, Lou Le Mouel, Victor Pereira, Stephanie Gourdon, Anne Lambilliotte, Birgit Geoerger, Veronique Minard-Colin, Laurence Brugieres

Publikováno v: Haematologica, Vol 107, Iss 9 (2022)

Externí odkaz: https://doaj.org/article/1abe8705448e4f5d86c7a4e2495fabc0

Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans

Autor: Hanna IJspeert, Pauline A. van Schouwenburg, Ingrid Pico-Knijnenburg, Jan Loeffen, Laurence Brugieres, Gertjan J. Driessen, Claudia Blattmann, Manon Suerink, Danuta Januszkiewicz-Lewandowska, Amedeo A. Azizi, Marcus G. Seidel, Heinz Jacobs, Mirjam van der Burg

Publikováno v: Frontiers in Immunology, Vol 10 (2019)

The generation of high-affinity antibodies depends on somatic hypermutation (SHM). SHM is initiated by the activation-induced cytidine deaminase (AID), which generates uracil (U) lesions in the B-cell receptor (BCR) encoding genes. Error-prone proces

Externí odkaz: https://doaj.org/article/02fdf5b9344e419387263bfb88fdd747

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

Supplementary table 1. from Molecular Screening for Cancer Treatment Optimization (MOSCATO-01) in Pediatric Patients: A Single-Institutional Prospective Molecular Stratification Trial

Autor: Birgit Geoerger, Jean-Charles Soria, Gilles Vassal, Stefan Michiels, Nathalie Gaspar, Christelle Dufour, Laurence Brugieres, Jacques Grill, Veronique Minard-Colin, Guillaume Meurice, Louise Gamiche-Rolland, Sabine Sarnacki, Dominique Valteau-Couanet, Adrien Allorant, Samuel Abbou, Zsofia Balogh, Pascale Varlet, Philippe Vielh, Nathalie Auger, Stephanie Puget, Frederic Deschamps, Marc Deloger, Ludovic Lacroix, Anne C. Harttrampf

Quality data of the WES and RNAseq analyzes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f1b51d1785c2afd12c765f6207ce8e2
https://doi.org/10.1158/1078-0432.22462142.v1

Legends Supplementary Material from Molecular Screening for Cancer Treatment Optimization (MOSCATO-01) in Pediatric Patients: A Single-Institutional Prospective Molecular Stratification Trial

Autor: Birgit Geoerger, Jean-Charles Soria, Gilles Vassal, Stefan Michiels, Nathalie Gaspar, Christelle Dufour, Laurence Brugieres, Jacques Grill, Veronique Minard-Colin, Guillaume Meurice, Louise Gamiche-Rolland, Sabine Sarnacki, Dominique Valteau-Couanet, Adrien Allorant, Samuel Abbou, Zsofia Balogh, Pascale Varlet, Philippe Vielh, Nathalie Auger, Stephanie Puget, Frederic Deschamps, Marc Deloger, Ludovic Lacroix, Anne C. Harttrampf

Legends Supplementary Material

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::606d82c5a2b3f082f268115db08c97e2
https://doi.org/10.1158/1078-0432.22462148.v1