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dc.contributor.authorHanson, H
dc.contributor.authorBrady, AF
dc.contributor.authorCrawford, G
dc.contributor.authorEeles, RA
dc.contributor.authorGibson, S
dc.contributor.authorJorgensen, M
dc.contributor.authorIzatt, L
dc.contributor.authorSohaib, A
dc.contributor.authorTischkowitz, M
dc.contributor.authorEvans, DG
dc.contributor.authorConsensus Group Members
dc.date.accessioned2020-07-06T11:34:30Z
dc.date.issued2020-06-22
dc.identifier.citationJournal of medical genetics, 2020
dc.identifier.issn0022-2593
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3806
dc.identifier.eissn1468-6244
dc.identifier.doi10.1136/jmedgenet-2020-106876
dc.description.abstractConstitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the more recently described heritable TP53-related cancer syndrome and are associated with increased lifetime risks of a wide spectrum of cancers. Due to the broad tumour spectrum, surveillance for this patient group has been limited. To date, the only recommendation in the UK has been for annual breast MRI in women; however, more recently, a more intensive surveillance protocol including whole-body MRI (WB-MRI) has been recommended by International Expert Groups. To address the gap in surveillance for this patient group in the UK, the UK Cancer Genetics Group facilitated a 1-day consensus meeting to discuss a protocol for the UK. Using a preworkshop survey followed by structured discussion on the day, we achieved consensus for a UK surveillance protocol for TP53 carriers to be adopted by UK Clinical Genetics services. The key recommendations are for annual WB-MRI and dedicated brain MRI from birth, annual breast MRI from 20 years in women and three-four monthly abdominal ultrasound in children along with review in a dedicated clinic.
dc.formatPrint-Electronic
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectConsensus Group Members
dc.titleUKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
dc.typeJournal Article
dcterms.dateAccepted2020-03-13
rioxxterms.versionofrecord10.1136/jmedgenet-2020-106876
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2020-06-22
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfJournal of medical genetics
pubs.notesNot known
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/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
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/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.publication-statusPublished
pubs.embargo.termsNot known
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorEeles, Rosalinden


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