Exploring the spectrum of central nervous system tumours in carriers of germline <i>POT1</i> variants
Our findings support a possible association between pathogenic <i>POT1</i> germline variants and increased risk of CNS tumours mainly oligodendroglioma, astrocytoma and glioblastoma. We highlight the potential importance of missense variants and telomeric measurement in tailoring of surveillance and advocate further studies to guide future personalised surveillance strategies.
Authors
- Emilie Neerup Nielsen (ORCID: https://orcid.org/0009-0000-7473-0290)
- Thomas van Overeem Hansen (ORCID: https://orcid.org/0000-0003-4635-2653)
- Jon Foss-Skiftesvik (ORCID: https://orcid.org/0000-0002-0259-8128)
- Zuzana Lohse
- Anne Marie Jelsig (ORCID: https://orcid.org/0000-0002-0916-4517)
- Line Borgwardt (ORCID: https://orcid.org/0000-0003-1719-9856)
- Susanne Timshel
- Karin Wadt (ORCID: https://orcid.org/0000-0003-2882-6798)
Institutions
- University of Copenhagen (DK)
- Roskilde Sygehus (DK)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Zealand University Hospital (DK)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1136/jmg-2025-110679
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00