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    UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

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    URI
    https://rde.dspace-express.com/handle/11287/622404
    Author
    Hanson, H.
    Durkie, M.
    Lalloo, F.
    Izatt, L.
    McVeigh, T. P.
    Cook, J. A.
    Brewer, C.
    Drummond, J.
    Butler, S.
    Cranston, T.
    Casey, R.
    Tan, T.
    Morganstein, D.
    Eccles, D. M.
    Tischkowitz, M.
    Turnbull, C.
    Woodward, E. R.
    Maher, E. R.
    Date
    2022-03-08
    Journal
    Journal of medical genetics
    Type
    Journal Article
    Publisher
    BMJ
    DOI
    10.1136/jmedgenet-2021-108355
    Rights
    © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.
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    Abstract
    SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV carriers present with an apparently sporadic tumour, but often the pathogenic variant has been inherited from parent who has the variant, but has not developed any clinical features. Studies of SDHA PGV carriers suggest that lifetime penetrance for SDHA-associated tumours is low, particularly when identified outside the context of a family history. Current recommended surveillance for SDHA PGV carriers follows an intensive protocol. With increasing implementation of tumour and germline large panel and whole-genome sequencing, it is likely more SDHA PGV carriers will be identified in patients with tumours not strongly associated with SDHA, or outside the context of a strong family history. This creates a complex situation about what to recommend in clinical practice considering low penetrance for tumour development, surveillance burden and patient anxiety. An expert SDHA working group was formed to discuss and consider this situation. This paper outlines the recommendations from this working group for testing and management of SDHA PGV carriers in clinical practice.
    Citation
    J Med Genet. 2022 Mar 8:jmedgenet-2021-108355. doi: 10.1136/jmedgenet-2021-108355.
    Publisher URL
    http://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=35260474
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    RD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted.
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    • Genetics and genomics

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