Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline <i>SMARCA4</i> Variant
This study highlights that awareness is needed for easy-to-miss germline variants in SMARCA4 and that knowledge about variant types, cancer spectrum, and cancer penetrance in individuals with a germline SMARCA4 variant is still evolving.
Authors
- Kornelia Neveling (ORCID: https://orcid.org/0009-0000-8055-5329)
- Marijn A. Vermeulen (ORCID: https://orcid.org/0000-0001-8926-1140)
- Marjolijn C.J. Jongmans (ORCID: https://orcid.org/0000-0001-6572-4374)
- Nienke van Engelen (ORCID: https://orcid.org/0000-0002-2012-0611)
- Mariëtte E.G. Kranendonk (ORCID: https://orcid.org/0000-0001-9683-7494)
- Michelle M Kleisman
- Carli Tops
- Ronald R. de Krijger (ORCID: https://orcid.org/0000-0001-6871-1296)
- Hans Clevers (ORCID: https://orcid.org/0000-0002-3077-5582)
- Saskia Hopman
- Roland P. Kuiper (ORCID: https://orcid.org/0000-0003-4928-3809)
- Lennart A. Kester (ORCID: https://orcid.org/0000-0002-8259-9971)
- Seok‐Young Kim (ORCID: https://orcid.org/0000-0001-8566-839X)
Institutions
- Royal Netherlands Academy of Arts and Sciences (NL)
- Radboud University Nijmegen (NL)
- Utrecht University (NL)
- Leiden University Medical Center (NL)
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- Princess Máxima Center (NL)
Publication Details
- Journal
- Pediatric Blood & Cancer
- Published
- 2025-06-28
- DOI
- https://doi.org/10.1002/pbc.31872
- Citations
- 2
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Stichting Kinderen Kankervrij