Committee Chair

Gianni Cazzaniga (GV)
Gianni Cazzaniga Fondazione Tettamanti, Monza

Scientific aims

  • Identification of gene variants associated to predisposition to leukemia/lymphoma, comorbidities and heterogeneous drug response
  • Understanding pathogenic mechanisms
  • Translation into to clinical protocols (including guidelines)

Activities and Projects

  • COST-Legend (2018-2022): The European Union-funded COST Action (LEukaemia GENe Discovery by data sharing, mining, and collaboration – LEGEND)

    An international and multidisciplinary collaboration between clinicians and researchers that covered a range of aspects of genetic predisposition in childhood leukemia

  • 'Origin': I-BFM ALL Host Genetic Variation Working Group

    Coordinated by Christian Peter Kratz, Martin Stanulla, Hélène Cavé

  • Coordination with the SIOPE-Host Genome group

  • Introduction of easy tools to recognize leukemia predisposition in different clinical protocol: by several members

  • Two editions (2019, 2021) of the ‘Predisposition to hereditary Leukemia and Lymphoma Training School” (COST-Action)

Collaborative projects:

  • Cohesin genes variants in ALL

    G. Cazzaniga (IT), J. Hauer (DE)

  • ELEGANT Study (Exploring Leukemia: Education, Genetics, And Novel Technologies)

    K. Schmiegelow (DK)

  • Family-based analysis of germline variants of children with leukemia/lymphoma

  • Lymphoid malignancies in children with AT

    Sarah Elitzur (IL)

  • Mono- and digenic germline predisposition in BCP-ALL

    F.Auer, J.Hauer, A.Borkhardt (DE) and others

  • Mutational patterns in tumors of children with NBS and AT

    Dilys Weijers (NL)

Selected publications

2023 Oct 1;108(10):2808-2813. doi: 10.3324/haematol.2022.282325.
Haematologica
Agata Pastorczak, Bartosz Szmyd, Marcin Braun, Joanna Madzio, Kamila Wypyszczak, Pawel Sztromwasser, Wojciech Fendler, Marzena Wojtaszewska, Jedrzej Chrzanowski, Wieslawa Grajkowska, Hanna Gregorek, Anna Wakulinska, Bernarda Kazanowska, Zdenka Krenova, Dilys D Weijers, Roland P Kuiper, Wojciech Mlynarski
2023 May;70(5):e30229. doi: 10.1002/pbc.30229. Epub 2023 Mar 1.
Pediatr Blood Cancer
Jelena Lazic, Oskar A Haas, Ugur Özbek, Tim Ripperger, Anna Byrjalsen, Geertruij Te Kronnie; LEGEND-COST Working group 5 members
2023 Apr;66(4):104727. doi: 10.1016/j.ejmg.2023.104727. Epub 2023 Feb 10.
Eur J Med Genet
Alisa Förster, Claudia Davenport, Nicolas Duployez, Miriam Erlacher, Alina Ferster, Jude Fitzgibbon, Gudrun Göhring, Henrik Hasle, Marjolijn C Jongmans, Alexandra Kolenova, Geertruijte Kronnie, Tim Lammens, Cristina Mecucci, Wojciech Mlynarski, Charlotte M Niemeyer, Francesc Sole, Tomasz Szczepanski, Esmé Waanders, Andrea Biondi, Marcin Wlodarski, Brigitte Schlegelberger, Tim Ripperger
2023 Apr;66(4):104725. doi: 10.1016/j.ejmg.2023.104725. Epub 2023 Feb 9.
Eur J Med Genet
Rabea Wagener, Sarah Elitzur, Triantafyllia Brozou, Arndt Borkhardt
2022 Sep;36(9):2338-2342. doi: 10.1038/s41375-022-01661-7. Epub 2022 Jul 28.
Leukemia
Adela Escudero, Masatoshi Takagi, Franziska Auer, Ulrike Anne Friedrich, Satoshi Miyamoto, Atsushi Ogawa, Kohsuke Imai, Barbara Pascual, María Vela, Polina Stepensky, Layal Yasin, Sarah Elitzur, Arndt Borkhardt, Antonio Pérez-Martínez, Julia Hauer
2022 Jun 2;12(6):88. doi: 10.1038/s41408-022-00683-9.
Blood Cancer J
Claudia Saitta, Stefano Rebellato, Laura Rachele Bettini, Giovanni Giudici, Nicolò Panini, Eugenio Erba, Valentina Massa, Franziska Auer, Ulrike Friedrich, Julia Hauer, Andrea Biondi, Grazia Fazio, Giovanni Cazzaniga
2022 May 5;23(9):5174. doi: 10.3390/ijms23095174.
Int J Mol Sci
Anne Schedel, Ulrike Anne Friedrich, Mina N F Morcos, Rabea Wagener, Juha Mehtonen, Titus Watrin, Claudia Saitta, Triantafyllia Brozou, Pia Michler, Carolin Walter, Asta Försti, Arka Baksi, Maria Menzel, Peter Horak, Nagarajan Paramasivam, Grazia Fazio, Robert J Autry, Stefan Fröhling, Meinolf Suttorp, Christoph Gertzen, Holger Gohlke, Sanil Bhatia, Karin Wadt, Kjeld Schmiegelow, Martin Dugas, Daniela Richter, Hanno Glimm, Merja Heinäniemi, Rolf Jessberger, Gianni Cazzaniga, Arndt Borkhardt, Julia Hauer, Franziska Auer.
2021 Dec 21;6(1):e668. doi: 10.1097/HS9.0000000000000668. eCollection 2022 Jan.
Hemasphere
Emma Kroeze, Dilys D Weijers, Melanie M Hagleitner, Hester A de Groot-Kruseman, Marjolijn C J Jongmans, Roland P Kuiper, Rob Pieters, Jules P P Meijerink, Jan L C Loeffen
2019 Sep;33(9):2331-2335. doi: 10.1038/s41375-019-0459-z. Epub 2019 Apr 9.
Leukemia
Minhui Lin, Karin Nebral, Christoph G W Gertzen, Ithamar Ganmore, Oskar A Haas, Sanil Bhatia, Ute Fischer, Michaela Kuhlen, Holger Gohlke, Shai Izraeli, Jan Trka, Jianda Hu, Arndt Borkhardt, Julia Hauer, Franziska Auer.
2016 Mar;59(3):111-5. doi: 10.1016/j.ejmg.2015.10.003. Epub 2015 Dec 15.
Eur J Med Genet
Christian Peter Kratz, Martin Stanulla, Hélène Cavé

Committee Members

  • Franziska Auer
  • Andishe Attarbaschi
  • Laura Bettini
  • Arndt Borkhardt
  • Helene Cavé
  • Sarah Elitzur
  • Adela Escudero
  • Grazia Fazio
  • Ute Fischer
  • Julia Hauer
  • Shai Izraeli
  • Marjolijn Jongmans
  • Roland Kuiper
  • Tim Lammens
  • Jelena Lazic
  • Jan Loeffen
  • Luca Lo Nigro
  • Ugur Ozbek
  • Agata Pastorczak
  • Tim Ripperger
  • Kjeld Schmiegelow
  • Martin Stanulla
  • Masatoshi Takagi
  • Jan Trka
  • Esmé Waanders
  • Jan Zuna
  • and many other regular and irregular participants