Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.
Germline and somatic genetic testing in localized forms of neurofibromatosis are advisable since this facilitates proper genetic counseling regarding risks to offspring, who could inherit a germline pathogenic variant. Another important point to consider is cancer surveillance, which is often underutilized in mosaic forms of neurofibromatosis.
Authors
- Lenka Krsková (ORCID: https://orcid.org/0000-0002-6113-6310)
- Martin Schwarz (ORCID: https://orcid.org/0000-0002-5585-8376)
- Markéta Vlčková (ORCID: https://orcid.org/0000-0002-1496-392X)
- Milan Maçek (ORCID: https://orcid.org/0000-0002-5173-5280)
- Jana Zarzycka
- Aleš Vícha (ORCID: https://orcid.org/0000-0003-3075-5554)
- Petra Hedvičáková
- Katarína Kuťková
- Šárka Bendová (ORCID: https://orcid.org/0000-0003-3264-7995)
Institutions
- Charles University (CZ)
- University Hospital in Motol (CZ)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-01
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00