| Title: |
NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study |
| Authors: |
Forde, Claire; Smith, Miriam J; Burghel, George J; Bowers, Naomi; Roberts, Nicola; Lavin, Tim; Halliday, Jane; King, Andrew Thomas; Rutherford, Scott; Pathmanaban, Omar N; Lloyd, Simon; Freeman, Simon; Halliday, Dorothy; Parry, Allyson; Axon, Patrick; Buttimore, Juliette; Afridi, Shazia; Obholzer, Rupert; Laitt, Roger; Thomas, Owen; Stivaros, Stavros Michael; Vassallo, Grace; Evans, D Gareth |
| Publisher Information: |
BMJ Publishing Group Ltd |
| Publication Year: |
2024 |
| Collection: |
HighWire Press (Stanford University) |
| Subject Terms: |
Cancer genetics |
| Description: |
Objectives New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling). The distribution of variant types among de novo and familial NF2 cases was also assessed. Methods The UK National NF2 database identifies patients meeting updated NF2 criteria from a highly ascertained population cared for by England’s specialised service. Diagnostic prevalence was assessed on 1 February 2023. Molecular analysis of blood and, where possible, tumour specimens for NF2, LZTR1 and SMARCB1 was performed. Results 1084 living NF2 patients were identified on prevalence day (equivalent to 1 in 61 332). The proportion with NF2 inherited from an affected parent was only 23% in England. If people without a confirmed molecular diagnosis or bilateral vestibular schwannoma are excluded, the frequency of de novo NF2 remains high (72%). Of the identified de novo cases, almost half were mosaic. The most common variant type was nonsense variants, accounting for 173/697 (24.8%) of people with an established variant, but only 18/235 (7.7%) with an inherited NF2 pathogenic variant (p |
| Document Type: |
text |
| File Description: |
text/html |
| Language: |
English |
| Relation: |
http://jmg.bmj.com/cgi/content/short/61/9/856; http://dx.doi.org/10.1136/jmg-2024-110065 |
| DOI: |
10.1136/jmg-2024-110065 |
| Availability: |
http://jmg.bmj.com/cgi/content/short/61/9/856; https://doi.org/10.1136/jmg-2024-110065 |
| Rights: |
Copyright (C) 2024, BMJ Publishing Group Ltd |
| Accession Number: |
edsbas.68EB53B7 |
| Database: |
BASE |