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dc.contributor.authorHanson, H
dc.contributor.authorDurkie, M
dc.contributor.authorLalloo, F
dc.contributor.authorIzatt, L
dc.contributor.authorMcVeigh, TP
dc.contributor.authorCook, JA
dc.contributor.authorBrewer, C
dc.contributor.authorDrummond, J
dc.contributor.authorButler, S
dc.contributor.authorCranston, T
dc.contributor.authorCasey, R
dc.contributor.authorTan, T
dc.contributor.authorMorganstein, D
dc.contributor.authorEccles, DM
dc.contributor.authorTischkowitz, M
dc.contributor.authorTurnbull, C
dc.contributor.authorWoodward, ER
dc.contributor.authorMaher, ER
dc.contributor.authorUK Cancer Genetics Centres
dc.date.accessioned2022-06-01T11:56:44Z
dc.date.available2022-06-01T11:56:44Z
dc.date.issued2022-03-08
dc.identifier.citationJournal of medical genetics, 2022, pp. jmedgenet-2021-108355 - ?en
dc.identifier.issn0022-2593
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/5160
dc.identifier.eissn1468-6244en_US
dc.identifier.eissn1468-6244
dc.identifier.doi10.1136/jmedgenet-2021-108355en_US
dc.identifier.doi10.1136/jmedgenet-2021-108355
dc.description.abstractSDHA 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.en_US
dc.formatPrint-Electronicen_US
dc.format.extentjmedgenet-2021-108355 - ?en_US
dc.languageengen_US
dc.language.isoengen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.subjectUK Cancer Genetics Centresen_US
dc.titleUK recommendations for SDHA germline genetic testing and surveillance in clinical practice.en
dc.typeJournal Article
dcterms.dateAccepted2022-02-13
rioxxterms.versionVoRen
rioxxterms.versionofrecord10.1136/jmedgenet-2021-108355en
rioxxterms.licenseref.startdate2022-03-08
dc.relation.isPartOfJournal of medical geneticsen_US
pubs.notesNo embargoen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genetics Education & Quality Improvement
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.publication-statusPublisheden_US
pubs.embargo.termsNo embargoen_US
icr.researchteamCancer Genetics Education & Quality Improvement
dc.contributor.icrauthorMcVeigh, Terrien_US


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