Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for <i>NF2</i>-related schwannomatosis
There were similar proportions of <i>LZTR1</i>, <i>SMARCB1</i> or mosaic <i>NF2</i>. However, since an <i>NF2</i> variant was detected in tumours from 103 people, it is likely that further cases of mosaicism would be detected if more people had additional tumours available for analysis. In addition, if further evidence becomes available to show that the VUSs are pathogenic, this would significantly increase the proportion of people with a genetic diagnosis. Our results indicate the importance of comprehensive genetic testing and improved variant classification.
Authors
- Simon Lloyd (ORCID: https://orcid.org/0000-0003-3433-0879)
- Dorothy Halliday (ORCID: https://orcid.org/0000-0002-1098-8599)
- Andrew T. King (ORCID: https://orcid.org/0000-0002-6546-7248)
- Simon Freeman (ORCID: https://orcid.org/0000-0002-6430-2206)
- Philip Smith (ORCID: https://orcid.org/0000-0002-6369-3719)
- Scott Rutherford (ORCID: https://orcid.org/0000-0002-6749-2295)
- Cristina Perez‐Becerril (ORCID: https://orcid.org/0000-0003-1630-1943)
- Naomi L. Bowers
- Sancha Bunstone
- George J. Burghel (ORCID: https://orcid.org/0000-0001-9360-8194)
- Miriam J. Smith (ORCID: https://orcid.org/0000-0002-3184-0817)
- Chris Duff
- Omar Pathmanaban (ORCID: https://orcid.org/0000-0002-5083-9416)
- Megan Carney (ORCID: https://orcid.org/0009-0004-6695-906X)
- Katherine Fryer
- D Gareth Evans
- Claire Hartley
- Mwee van der Meer
- Sarah Waller
Institutions
- Manchester Academic Health Science Centre (GB)
- Salford Royal NHS Foundation Trust (GB)
- University of Manchester (GB)
- St Mary's Hospital (GB)
- Manchester University NHS Foundation Trust (GB)
- Salford Royal Hospital (GB)
- Science Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
- Genomics (United Kingdom) (GB)
- St. Mary's Hospital (GB)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1136/jmg-2024-110217
- Citations
- 5
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 1.85
Funders
- National Institute for Health and Care Research
- Congressionally Directed Medical Research Programs
- U.S. Army Medical Research Acquisition Activity