Hyperdiploid acute lymphoblastic leukemia in children with LZTR1 germline variants

Autor: Lisa Zipper, Rabea Wagener, Ute Fischer, Anna Hoffmann, Layal Yasin, Danielle Brandes, Stavrieta Soura, Ammarah Anwar, Carolin Walter, Julian Varghese, Julia Hauer, Franziska Auer, Sanil Bhatia, Martin Dugas, Stefanie V. Junk, Martin Stanulla, Oskar A. Haas, Arndt Borkhardt, Tobias Reiff, Triantafyllia Brozou

Publikováno v: HemaSphere, Vol 8, Iss 1, Pp n/a-n/a (2024)

Externí odkaz: https://doaj.org/article/bf1493960537425bbd60e7eed04ac8bb

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies

Autor: Triantafyllia Brozou, Layal Yasin, Danielle Brandes, Daniel Picard, Carolin Walter, Julian Varghese, Martin Dugas, Ute Fischer, Arndt Borkhardt, Oskar A. Haas

Publikováno v: Frontiers in Pediatrics, Vol 10 (2023)

Molecular screening tools have significantly eased the assessment of potential germline susceptibility factors that may underlie the development of pediatric malignancies. Most of the hitherto published studies utilize the comparative analyses of the

Externí odkaz: https://doaj.org/article/6708bfe8cbf947749a0cbf40b25fba82

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

Die Rolle von genetischer Prädisposition bei Krebserkrankungen im Kindesalter

Autor: Triantafyllia Brozou, Rabea Wagener

Publikováno v: Kinder- und Jugendmedizin. 22:32-40

ZUSAMMENFASSUNGObwohl maligne Erkrankungen im Kindesalter seltener als bei Erwachsenen auftreten, sind sie die zweithäufigste Todesursache (nach tödlichen Unfällen) bei Kindern bis zum 15. Lebensjahr. Laut dem letzten Bericht des Deutschen Kinderk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7389b93265dcb91d35e33364594f9f33
https://doi.org/10.1055/a-1706-4417

Clinical criteria for genetic testing in pediatric oncology show a low specificity and miss every 4thchild carrying a cancer predisposition

Autor: Ulrike Anne Friedrich, Marc Bienias, Claudia Zinke, Maria Prazenicova, Judith Lohse, Arne Jahn, Maria Menzel, Jonas Langanke, Carolin Walter, Rabea Wagener, Triantafyllia Brozou, Julian Varghese, Martin Dugas, Evelin Schröck, Meinolf Suttorp, Arndt Borkhardt, Julia Hauer, Franziska Auer

Clinical checklists are the current gold standard to determine whether a child with cancer shows indications for genetic testing. Nevertheless, the efficacy of these tests to reliably detect genetic cancer predisposition in children with cancer is st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce3188a203aaeb2594c8b67fc1314030
https://doi.org/10.1101/2022.10.22.22281392