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dc.contributor.authorBajalica Lagercrantz, Svetlana
dc.contributor.authorOliveira, Carla
dc.contributor.authorMagenheim, Rita
dc.contributor.authorEvans, D. Gareth
dc.contributor.authorHoogerbrugge, Nicoline
dc.contributor.authorLigtenberg, Marjolijn
dc.contributor.authorKets, Marleen
dc.contributor.authorOostenbrink, Rianne
dc.contributor.authorSijmons, Rolf
dc.contributor.authorEvans, Gareth
dc.contributor.authorWoodward, Emma
dc.contributor.authorTischkowitz, Marc
dc.contributor.authorMaher, Eamonn
dc.contributor.authorFerner, Rosalie E.
dc.contributor.authorAretz, Stefan
dc.contributor.authorSpier, Isabel
dc.contributor.authorSteinke-Lange, Verena
dc.contributor.authorHolinski-Feder, Elke
dc.contributor.authorSchröck, Evelin
dc.contributor.authorFrebourg, Thierry
dc.contributor.authorHoudayer, Claude
dc.contributor.authorColas, Chrystelle
dc.contributor.authorWolkenstein, Pierre
dc.contributor.authorBours, Vincent
dc.contributor.authorLegius, Eric
dc.contributor.authorPoppe, Bruce
dc.contributor.authorClaes, Kathleen
dc.contributor.authorde Putter, Robin
dc.contributor.authorGuillermo, Ignacio Blanco
dc.contributor.authorCapella, Gabriel
dc.contributor.authorVidal, Joan Brunet
dc.contributor.authorLázaro, Conxi
dc.contributor.authorBalmaña, Judith
dc.contributor.authorHernandez, Hector Salvador
dc.contributor.authorTeixeira, Manuel
dc.contributor.authorBajalica-Lagercrantz, Svetlana
dc.contributor.authorTham, Emma
dc.contributor.authorLubinski, Jan
dc.contributor.authorErtmanska, Karolina
dc.contributor.authorMelegh, Bela
dc.contributor.authorKrajc, Mateja
dc.contributor.authorBlatnik, Ana
dc.contributor.authorPeltonen, Sirkku
dc.contributor.authorHietala, Marja
dc.date.accessioned2021-02-09T16:33:50Z
dc.date.available2021-02-09T16:33:50Z
dc.date.issued2020-05-26
dc.date.submitted2020-02-11
dc.identifier.issn1018-4813
dc.identifier.others41431-020-0638-4
dc.identifier.other638
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/317401
dc.description.abstractAbstract: Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher cancer risk) and on modifying factors; (iv) whole-body MRI (WBMRI) allows early detection of tumours in variant carriers and (v) in cancer patients with germline disease-causing TP53 variants, radiotherapy, and conventional genotoxic chemotherapy contribute to the development of subsequent primary tumours. It is critical to perform TP53 testing before the initiation of treatment in order to avoid in carriers, if possible, radiotherapy and genotoxic chemotherapies. In children, the recommendations are to perform clinical examination and abdominal ultrasound every 6 months, annual WBMRI and brain MRI from the first year of life, if the TP53 variant is known to be associated with childhood cancers. In adults, the surveillance should include every year clinical examination, WBMRI, breast MRI in females from 20 until 65 years and brain MRI until 50 years.
dc.languageen
dc.publisherSpringer International Publishing
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/631/67/2322
dc.subject/692/499
dc.subjectarticle
dc.titleGuidelines for the Li–Fraumeni and heritable TP53 -related cancer syndromes
dc.typeArticle
dc.date.updated2021-02-09T16:33:50Z
prism.endingPage1386
prism.issueIdentifier10
prism.publicationNameEuropean Journal of Human Genetics
prism.startingPage1379
prism.volume28
dc.identifier.doi10.17863/CAM.64514
dcterms.dateAccepted2020-04-08
rioxxterms.versionofrecord10.1038/s41431-020-0638-4
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidEvans, D. Gareth [0000-0002-8482-5784]
dc.identifier.eissn1476-5438


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