{"id":278,"date":"2023-06-07T09:34:24","date_gmt":"2023-06-07T07:34:24","guid":{"rendered":"https:\/\/fastllama.pl\/klient\/ibfm\/?page_id=278"},"modified":"2023-06-29T11:45:12","modified_gmt":"2023-06-29T09:45:12","slug":"genetic-variation-gv","status":"publish","type":"page","link":"https:\/\/fastllama.pl\/klient\/ibfm\/structure\/committees\/genetic-variation-gv\/","title":{"rendered":"Genetic Variation (GV)"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"278\" class=\"elementor elementor-278\">\n\t\t\t\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-d254e0c elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"d254e0c\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-66 elementor-top-column elementor-element elementor-element-5b3e71d\" data-id=\"5b3e71d\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-132cbe7 elementor-widget elementor-widget-text-editor\" data-id=\"132cbe7\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.12.0 - 29-03-2023 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p><strong>GENETIC VARIATION COMMITTEE (GV)<\/strong><\/p><p><strong>Committee chair<\/strong><\/p><p>Gianni Cazzaniga; Fondazione Tettamanti, Monza<\/p><p>\u00a0<\/p><p><strong>Abstract<\/strong><\/p><p><strong>Scientific aims<\/strong><\/p><ul><li>The Committee is focused on<ul><li>i) identification of gene variants associated to:<ul><li>predisposition to leukemia\/lymphoma<\/li><li>comorbidities<\/li><li>heterogeneous drug response;<\/li><\/ul><\/li><li>ii) understanding pathogenic mechanisms;<\/li><li>iii) translation into to clinical protocols (including guidelines)<\/li><\/ul><\/li><\/ul>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-d32172e\" data-id=\"d32172e\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4000203 elementor-widget__width-initial elementor-widget elementor-widget-image\" data-id=\"4000203\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.12.0 - 29-03-2023 *\/\n.elementor-widget-image{text-align:center}.elementor-widget-image a{display:inline-block}.elementor-widget-image a img[src$=\".svg\"]{width:48px}.elementor-widget-image img{vertical-align:middle;display:inline-block}<\/style>\t\t\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"682\" src=\"https:\/\/fastllama.pl\/klient\/ibfm\/wp-content\/uploads\/2023\/06\/Gianni-Cazzaniga-1-1024x682.jpg\" class=\"attachment-large size-large wp-image-605\" alt=\"\" srcset=\"https:\/\/fastllama.pl\/klient\/ibfm\/wp-content\/uploads\/2023\/06\/Gianni-Cazzaniga-1-1024x682.jpg 1024w, https:\/\/fastllama.pl\/klient\/ibfm\/wp-content\/uploads\/2023\/06\/Gianni-Cazzaniga-1-300x200.jpg 300w, https:\/\/fastllama.pl\/klient\/ibfm\/wp-content\/uploads\/2023\/06\/Gianni-Cazzaniga-1-768x511.jpg 768w, https:\/\/fastllama.pl\/klient\/ibfm\/wp-content\/uploads\/2023\/06\/Gianni-Cazzaniga-1-1536x1023.jpg 1536w, https:\/\/fastllama.pl\/klient\/ibfm\/wp-content\/uploads\/2023\/06\/Gianni-Cazzaniga-1-2048x1364.jpg 2048w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-90585f1 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"90585f1\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-df23fd6\" data-id=\"df23fd6\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-a4d4163 elementor-widget elementor-widget-text-editor\" data-id=\"a4d4163\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<ul><li style=\"list-style-type: none;\">\u00a0<\/li><\/ul><p><strong>Activities and Projects<\/strong><\/p><ul><li>\u2018Origin\u2019: I-BFM ALL Host Genetic Variation Working Group (coordinated by\u00a0Christian Peter Kratz, Martin Stanulla, H\u00e9l\u00e8ne Cav\u00e9)<\/li><li>COST-Legend (2018-2022): The European Union-funded COST Action (LEukaemia GENe Discovery by data sharing, mining, and collaboration \u2013 LEGEND) was an international and multidisciplinary collaboration between clinicians and researchers that covered a range of aspects of genetic predisposition in childhood leukemia.<\/li><li>Two editions (2019, 2021) of the \u2018Predisposition to hereditary Leukemia and Lymphoma Training School\u201d (COST-Action)<\/li><li>Introduction of easy tools to recognize leukemia predisposition in different clinical protocol: by several members<\/li><li>Coordination with the SIOPE-Host Genome group<\/li><\/ul><p>Collaborative projects:<\/p><ul><li>ELEGANT Study (Exploring Leukemia: Education, Genetics, And Novel Technologies): K.Schmiegelow (DK)<\/li><li>Cohesin genes variants in ALL: G.Cazzaniga (IT), J.Hauer (DE)<\/li><li>Lymphoid malignancies in children with AT: Sarah Elitzur (IL)<\/li><li>Mutational patterns in tumors of children with NBS and AT: Dilys Weijers (NL)<\/li><li>Mono- and digenic germline predisposition in BCP-ALL: F.Auer, J.Hauer, A.Borkhardt (DE) and others<\/li><li>Family-based analysis of germline variants of children with leukemia\/lymphoma\u201d: several members<\/li><\/ul><p><strong>\u00a0<\/strong><\/p><p><strong>Selected publications<\/strong><\/p><p>Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey. Lazic J, Haas OA, \u00d6zbek U, Ripperger T, Byrjalsen A, Te Kronnie G; LEGEND-COST Working group 5 members. Pediatr Blood Cancer. 2023 May;70(5):e30229. doi: 10.1002\/pbc.30229. Epub 2023 Mar 1. PMID: 36860090.<\/p><p>European standard clinical practice &#8211; Key issues for the medical care of individuals with familial leukemia. F\u00f6rster A, Davenport C, Duployez N, Erlacher M, Ferster A, Fitzgibbon J, G\u00f6hring G, Hasle H, Jongmans MC, Kolenova A, Kronnie G, Lammens T, Mecucci C, Mlynarski W, Niemeyer CM, Sole F, Szczepanski T, Waanders E, Biondi A, Wlodarski M, Schlegelberger B, Ripperger T. Eur J Med Genet. 2023 Apr;66(4):104727. doi: 10.1016\/j.ejmg.2023.104727. Epub 2023 Feb 10. PMID: 36775010.<\/p><p>Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia. Wagener R, Elitzur S, Brozou T, Borkhardt A. Eur J Med Genet. 2023 Apr;66(4):104725. doi: 10.1016\/j.ejmg.2023.104725. Epub 2023 Feb 9. PMID: 36764385.<\/p><p>Clinical and laboratory diversity of diffuse large B-cell lymphomas in children with Nijmegen breakage syndrome. Pastorczak A, Szmyd B, Braun M, Madzio J, Wypyszczak K, Sztromwasser P, Fendler W, Wojtaszewska M, Chrzanowski J, Grajkowska W, Gregorek H, Wakulinska A, Kazanowska B, Krenova Z, Weijers DD, Kuiper RP, Mlynarski W. Haematologica. 2023 Apr 6. doi: 10.3324\/haematol.2022.282325. Epub ahead of print. PMID: 37021541.<\/p><p>Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Escudero A, Takagi M, Auer F, Friedrich UA, Miyamoto S, Ogawa A, Imai K, Pascual B, Vela M, Stepensky P, Yasin L, Elitzur S, Borkhardt A, P\u00e9rez-Mart\u00ednez A, Hauer J. Leukemia. 2022 Sep;36(9):2338-2342. doi: 10.1038\/s41375-022-01661-7. Epub 2022 Jul 28. PMID: 35902733.<\/p><p>Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies. Saitta C, Rebellato S, Bettini LR, Giudici G, Panini N, Erba E, Massa V, Auer F, Friedrich U, Hauer J, Biondi A, Fazio G, Cazzaniga G. Blood Cancer J. 2022 Jun 2;12(6):88. doi: 10.1038\/s41408-022-00683-9. PMID: 35654786<\/p><p>Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma. Schedel A, Friedrich UA, Morcos MNF, Wagener R, Mehtonen J, Watrin T, Saitta C, Brozou T, Michler P, Walter C, F\u00f6rsti A, Baksi A, Menzel M, Horak P, Paramasivam N, Fazio G, Autry RJ, Fr\u00f6hling S, Suttorp M, Gertzen C, Gohlke H, Bhatia S, Wadt K, Schmiegelow K, Dugas M, Richter D, Glimm H, Hein\u00e4niemi M, Jessberger R, Cazzaniga G, Borkhardt A, Hauer J, Auer F. Int J Mol Sci. 2022 May 5;23(9):5174. doi: 10.3390\/ijms23095174. PMID: 35563565<\/p><p>Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort. Kroeze E, Weijers DD, Hagleitner MM, de Groot-Kruseman HA, Jongmans MCJ, Kuiper RP, Pieters R, Meijerink JPP, Loeffen JLC. High Prevalence of Hemasphere. 2021 Dec 21;6(1):e668. doi: 10.1097\/HS9.0000000000000668. PMID: 34964038<\/p><p>JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility. Lin M, Nebral K, Gertzen CGW, Ganmore I, Haas OA, Bhatia S, Fischer U, Kuhlen M, Gohlke H, Izraeli S, Trka J, Hu J, Borkhardt A, Hauer J, Auer F. Leukemia. 2019 Sep;33(9):2331-2335. doi: 10.1038\/s41375-019-0459-z. Epub 2019 Apr 9. PMID: 30967616<\/p><p>Special issue of Eur J Med Genet (March 2016) introduced by the summary article:<\/p><p><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26699264\">Genetic predisposition to acute lymphoblastic leukemia: Overview on behalf of the I-BFM ALL Host Genetic Variation Working Group.\u00a0<\/a>Kratz CP, Stanulla M, Cav\u00e9 H. Eur J Med Genet. 2016 Mar;59(3):111-5. doi: 10.1016\/j.ejmg.2015.10.003. Epub 2015 Dec 15.<\/p><p><strong>\u00a0<\/strong><\/p><p><strong>Committee members<\/strong><\/p><p>Andishe Attarbaschi, Tim Lammens, Jan Trka, Jan Zuna, Kjeld Schmiegelow, Helene Cav\u00e9, Franziska Auer, Ute Fischer, Julia Hauer, Tim Ripperger, Sarah Elitzur, Shai Izraeli, Laura Bettini, Grazia Fazio, Luca Lo Nigro, Masatoshi Takagi, Marjolijn Jongmans, Roland Kuiper, Jan Loeffen, Esm\u00e9 Waanders, Agata Pastorczak, Jelena Lazic, Adela Escudero, Ugur Ozbek, Martin Stanulla, Arndt Borkhardt and many other regular and irregular participants.<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-788c751 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"788c751\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-6e40492\" data-id=\"6e40492\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-505acee elementor-widget elementor-widget-text-editor\" data-id=\"505acee\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>GENETIC VARIATION COMMITTEE (GV) Committee chair Gianni Cazzaniga; Fondazione Tettamanti, Monza \u00a0 Abstract Scientific aims The Committee is focused on i) identification of gene variants associated to: predisposition to leukemia\/lymphoma comorbidities heterogeneous drug response; ii) understanding pathogenic mechanisms; iii) translation into to clinical protocols (including guidelines) \u00a0 Activities and Projects \u2018Origin\u2019: I-BFM ALL Host Genetic [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":225,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-278","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/pages\/278","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/comments?post=278"}],"version-history":[{"count":22,"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/pages\/278\/revisions"}],"predecessor-version":[{"id":615,"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/pages\/278\/revisions\/615"}],"up":[{"embeddable":true,"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/pages\/225"}],"wp:attachment":[{"href":"https:\/\/fastllama.pl\/klient\/ibfm\/wp-json\/wp\/v2\/media?parent=278"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}