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dc.contributor.authorSaya, S
dc.contributor.authorKillick, E
dc.contributor.authorThomas, S
dc.contributor.authorTaylor, N
dc.contributor.authorBancroft, EK
dc.contributor.authorRothwell, J
dc.contributor.authorBenafif, S
dc.contributor.authorDias, A
dc.contributor.authorMikropoulos, C
dc.contributor.authorPope, J
dc.contributor.authorChamberlain, A
dc.contributor.authorGunapala, R
dc.contributor.authorSIGNIFY Study Steering Committee
dc.contributor.authorIzatt, L
dc.contributor.authorSide, L
dc.contributor.authorWalker, L
dc.contributor.authorTomkins, S
dc.contributor.authorCook, J
dc.contributor.authorBarwell, J
dc.contributor.authorWiles, V
dc.contributor.authorLimb, L
dc.contributor.authorEccles, D
dc.contributor.authorLeach, MO
dc.contributor.authorShanley, S
dc.contributor.authorGilbert, FJ
dc.contributor.authorHanson, H
dc.contributor.authorGallagher, D
dc.contributor.authorRajashanker, B
dc.contributor.authorWhitehouse, RW
dc.contributor.authorKoh, D-M
dc.contributor.authorSohaib, SA
dc.contributor.authorEvans, DG
dc.contributor.authorEeles, RA
dc.date.accessioned2017-01-11T15:00:14Z
dc.date.issued2017-07
dc.identifier.citationFamilial cancer, 2017, 16 (3), pp. 433 - 440
dc.identifier.issn1389-9600
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/388
dc.identifier.eissn1573-7292
dc.identifier.doi10.1007/s10689-017-9965-1
dc.description.abstractIn the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed in TP53 mutation carriers against general population controls was calculated. The incidences of non-malignant relevant disease and irrelevant disease were measured, as well as the number of investigations required to determine relevance of findings. In TP53 mutation carriers, 6 of 44 (13.6, 95% CI 5.2-27.4%) participants were diagnosed with cancer during the study, all of which would be considered life threatening if untreated. Two were found to have two primary cancers. Two participants with cancer had abnormalities on the MRI which were initially thought to be benign (a pericardial cyst and a uterine fibroid) but transpired to be sarcomas. No controls were diagnosed with cancer. Fifteen carriers (34.1, 95% CI 20.5-49.9%) and seven controls (15.9, 95% CI 6.7-30.1%) underwent further investigations following the WB MRI for abnormalities that transpired to be benign (p = 0.049). The cancer detection rate in this group justifies a minimum baseline non-contrast WB MRI in germline TP53 mutation carriers. This should be adopted into national guidelines for management of adult TP53 mutation carriers in addition to the current practice of contrast enhanced breast MRI imaging.
dc.formatPrint
dc.format.extent433 - 440
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectSIGNIFY Study Steering Committee
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectMagnetic Resonance Imaging
dc.subjectMass Screening
dc.subjectIncidence
dc.subjectHeterozygote
dc.subjectMutation
dc.subjectAdult
dc.subjectMiddle Aged
dc.subjectFemale
dc.subjectMale
dc.subjectTumor Suppressor Protein p53
dc.subjectWhole Body Imaging
dc.subjectEarly Detection of Cancer
dc.subjectYoung Adult
dc.subjectUnited Kingdom
dc.titleBaseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.
dc.typeJournal Article
dcterms.dateAccepted2017-01-05
rioxxterms.versionofrecord10.1007/s10689-017-9965-1
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2017-07
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfFamilial cancer
pubs.issue3
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/Magnetic Resonance
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
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/Magnetic Resonance
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.publication-statusPublished
pubs.volume16
pubs.embargo.termsNot known
icr.researchteamMagnetic Resonanceen_US
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorBenafif, Sarahen
dc.contributor.icrauthorPope, Jenniferen
dc.contributor.icrauthorEeles, Rosalinden
dc.contributor.icrauthorLeach, Martinen
dc.contributor.icrauthorKoh, Dow-Muen
dc.contributor.icrauthorMarsden,en


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