Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor
We identified two main mechanisms of Wilms tumor predisposition: either germline genetic alterations of Wilms tumor and, less frequently, general cancer genes; or postzygotic mosaic imprinting defects activating IGF2. These findings inform future genetic screening and risk assessment of affected children and lend support to liquid biopsy screening for enhanced therapeutic stratification.
Authors
- Susanne Gramlich (ORCID: https://orcid.org/0000-0003-1224-0514)
- Norbert Jorch
- Eva Jüttner
- Sabrina Bausenwein
- Markus Metzler (ORCID: https://orcid.org/0000-0002-4523-1676)
- Carsten Friedrich (ORCID: https://orcid.org/0000-0003-0411-0015)
- Sheena Warman (ORCID: https://orcid.org/0000-0003-0829-2039)
- Norbert M. Graf (ORCID: https://orcid.org/0000-0002-2248-323X)
- Barbara Ziegler (ORCID: https://orcid.org/0000-0001-8188-9697)
- Karen Ernestus
- Jörg Fuchs (ORCID: https://orcid.org/0000-0003-4171-5371)
- Nils Welter (ORCID: https://orcid.org/0000-0001-9874-4726)
- Kathy Pritchard‐Jones (ORCID: https://orcid.org/0000-0002-2384-9475)
- Jana Stursberg
- Rhoikos Furtwängler (ORCID: https://orcid.org/0000-0002-1967-8343)
- Michael C. Frühwald (ORCID: https://orcid.org/0000-0002-8237-1854)
- Jenny Wegert (ORCID: https://orcid.org/0009-0009-4505-5519)
- Heike Streitenberger
- Jochen Hubertus (ORCID: https://orcid.org/0000-0003-3206-6170)
- Sam Behjati (ORCID: https://orcid.org/0000-0002-6600-7665)
- Arnulf Pekrun
- Selim Corbacioglu (ORCID: https://orcid.org/0000-0003-1070-8486)
- Silke Appenzeller (ORCID: https://orcid.org/0000-0002-5472-8692)
- Taryn D. Treger (ORCID: https://orcid.org/0000-0002-7204-4737)
- Manfred Gessler (ORCID: https://orcid.org/0000-0002-7915-6045)
- Birgit Fröhlich (ORCID: https://orcid.org/0009-0005-4803-8336)
- Conor Parks (ORCID: https://orcid.org/0000-0003-0240-0684)
- Jörg Faber (ORCID: https://orcid.org/0000-0002-1210-2261)
- Dominik T. Schneider (ORCID: https://orcid.org/0000-0001-8153-1601)
- Christian Vokuhl
- Dietrich von Schweinitz
- Ralf Knöfler
Institutions
- Witten/Herdecke University (DE)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Universität Ulm (DE)
- Johannes Gutenberg University Mainz (DE)
- University of Münster (DE)
- University of Cambridge (GB)
- University of Würzburg (DE)
- University Hospital Bonn (DE)
- University Hospitals of the Ruhr-University of Bochum (DE)
- University Hospital of Bern (CH)
- University Hospital Augsburg (DE)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Wellcome Sanger Institute (GB)
- University Hospital Regensburg (DE)
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
- Comprehensive Cancer Center Mainfranken (DE)
- Evangelisches Krankenhaus Bielefeld (DE)
- University Hospital Schleswig-Holstein (DE)
- University Children's Hospital Tübingen (DE)
- Marien Hospital Witten (DE)
- Klinikum Bremen-Mitte (DE)
- University Hospital Carl Gustav Carus (DE)
- University College London (GB)
- University of Regensburg (DE)
- Ruhr University Bochum (DE)
- Saarland University (DE)
- University of Lübeck (DE)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-05-08
- DOI
- https://doi.org/10.1186/s13073-025-01482-0
- Citations
- 7
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 5.64
Funders
- Wellcome Trust
- Deutsche Forschungsgemeinschaft
- Deutsche Krebshilfe
- Julius-Maximilians-Universität Würzburg
- Little Princess Trust