A5083741511- Neurofibromatosis and Schwannoma Cases
- Meningioma and schwannoma management
- Bone Tumor Diagnosis and Treatments
- Genomics and Rare Diseases
- Chromatin Remodeling and Cancer
- Peptidase Inhibition and Analysis
St Mary's Hospital
2022
Manchester Academic Health Science Centre
2017-2022
St. Mary's Hospital
2022
University of Manchester
2017-2022
Genomics (United Kingdom)
2022
Manchester University
2017
National Health Service
2017
Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than 60 years rare children young adults. Multiple and/or meningiomas more frequently associated with a tumor suppressor syndrome and, accordingly, trigger genetic testing, whereas solitary do not. Nevertheless, apparently sporadic patients may herald syndrome.To determine the frequency of known heritable meningioma- or schwannoma-predisposing mutations presenting meningioma schwannoma.Using database...
Objectives Cases of sporadic vestibular schwannoma (sVS) have a low rate association with germline pathogenic variants. However, some individuals sVS can represent undetected cases neurofibromatosis type 2 (NF2) or schwannomatosis. Earlier identification patients these syndromes facilitate more accurate familial risk prediction and prognosis. Methods were ascertained from local register at the Manchester Centre for Genomic Medicine. Genetic analysis was conducted in NF2 on blood samples all...
Missense variants in the NF2 gene result variable disease presentation. Clinical classification of missense often represents a challenge, due to lack evidence for pathogenicity and function. This study provides summary variants, with variant classifications based on currently available evidence. were collated from pathology-associated databases existing literature. Association Genomic Sciences Best Practice Guidelines (2020) followed application interpretation classification. The majority...
Vestibular schwannomas are benign nerve sheath tumours that arise on the vestibulocochlear nerves. known to occur in context of tumour predisposition syndromes NF2-related and LZTR1-related schwannomatosis. However, majority vestibular present sporadically without identification germline pathogenic variants. To identify novel genetic associations with risk schwannoma development, we conducted a genome-wide association study cohort 911 sporadic cases collated from neurofibromatosis type 2...