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dc.contributor.authorMaher, Eamonn
dc.contributor.authorAdlard, Julian
dc.contributor.authorBarwell, Julian
dc.contributor.authorBrady, Angela F
dc.contributor.authorBrennan, Paul
dc.contributor.authorCook, Jackie
dc.contributor.authorCrawford, Gillian S
dc.contributor.authorDabir, Tabib
dc.contributor.authorDavidson, Rosemarie
dc.contributor.authorDyer, Rebecca
dc.contributor.authorHarrison, Rachel
dc.contributor.authorForde, Claire
dc.contributor.authorHalliday, Dorothy
dc.contributor.authorHanson, Helen
dc.contributor.authorHay, Eleanor
dc.contributor.authorHiggs, Jenny
dc.contributor.authorJones, Mari
dc.contributor.authorLalloo, Fiona
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.authorOng, Kai Ren
dc.contributor.authorPelz, Frauke
dc.contributor.authorRuddy, Deborah
dc.contributor.authorSnape, Katie
dc.contributor.authorWhitworth, James
dc.contributor.authorSandford, Richard N
dc.description.abstractBACKGROUND: Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the "real world" management of VHL disease. METHODS: A national audit of VHL disease in the United Kingdom. RESULTS: VHL disease was managed mostly via specialist clinics coordinated through regional clinical genetics services (but frequently involving additional specialties). Over the study period, 19 genetic centres saw 842 individuals (393 males, 449 females) with a clinical and/or molecular diagnosis of VHL disease and 74 individuals (35 male, 39 female) with a prior risk of 50% (affected parent). All centres offered retinal, central nervous system and abdominal surveillance to affected individuals and at-risk relatives though surveillance details differed between centres (but complied with international recommendations). Renal lesions detected on the first surveillance scan were, on average, larger than those detected during subsequent scans and the larger the diameter at detection the greater the likelihood of early intervention. CONCLUSIONS: In a state-funded health care system individuals with a rare inherited cancer predisposition syndrome are generally able to access appropriate surveillance and patient management is improved compared to historical data. The "real world" data from this study will inform the future development of VHL management protocols.
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.sourceessn: 1532-1827
dc.sourcenlmid: 0370635
dc.titleEvaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
prism.publicationNameBr J Cancer
dc.contributor.orcidMaher, Eamonn [0000-0002-6226-6918]
dc.contributor.orcidLalloo, Fiona [0000-0002-0612-8377]

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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International