Constitutional mosaicism of pathogenic variants in <i>SMARCB1</i> in a subset of patients with sporadic rhabdoid tumors
Constitutional mosaicism for pathogenic small SMARCB1 variants is recurrent in patients with allegedly sporadic RT. The clinical implications of such variants need to be determined in larger, prospective cohorts also including detection of structural variants of SMARCB1.
Authors
- Joachim Gerß (ORCID: https://orcid.org/0000-0003-3489-683X)
- Susanne Bens (ORCID: https://orcid.org/0009-0008-5263-495X)
- Martin Hasselblatt (ORCID: https://orcid.org/0000-0003-2707-8484)
- Sonja Dahlum
- Selina Glaser
- Michael C. Frühwald (ORCID: https://orcid.org/0000-0002-8237-1854)
- Florian Oyen
- Karolina Nemes (ORCID: https://orcid.org/0000-0003-0270-5875)
- Helene Kretzmer (ORCID: https://orcid.org/0000-0002-0723-4980)
- Reiner Siebert (ORCID: https://orcid.org/0000-0002-6492-5323)
- Alexandra G. Kouroukli
- Lara S. Fleischmann (ORCID: https://orcid.org/0009-0004-3216-8163)
- Matej Boros (ORCID: https://orcid.org/0000-0001-6577-8022)
Institutions
- Universität Hamburg (DE)
- Universität Ulm (DE)
- University of Münster (DE)
- University Medical Center (US)
- University Hospital Münster (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- Cancer Research Center (US)
- Max Planck Institute for Molecular Genetics (DE)
- Children's Cancer Center (US)
Publication Details
- Journal
- Neuro-Oncology
- Published
- 2024-09-17
- DOI
- https://doi.org/10.1093/neuonc/noae188
- Citations
- 4
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Westfälische Wilhelms-Universität Münster
- Deutsche Krebshilfe
- Deutsche Kinderkrebsstiftung
- Universitätsklinikum Hamburg-Eppendorf