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dc.contributor.authorColas, Chrystelle
dc.contributor.authorPouwels, Sjaak
dc.contributor.authorHoogerbrugge, Nicoline
dc.contributor.authorBisseling, Tanya
dc.contributor.authorBubien, Virginie
dc.contributor.authorCaux, Frederic
dc.contributor.authorChabbert-Buffet, Nathalie
dc.contributor.authorDa Mota Gomes, Sophie
dc.contributor.authorGotthardt, Martin
dc.contributor.authorKets, Marleen
dc.contributor.authorLachlan, Katherine L.
dc.contributor.authorLinks, Thera P.
dc.contributor.authorLongy, Michel
dc.contributor.authorMann, Ritse
dc.contributor.authorKool, Leo Schultze
dc.contributor.authorSemple, Robert K.
dc.contributor.authorStock, Ian
dc.contributor.authorTischkowitz, Marc
dc.contributor.authorVos, Janet
dc.contributor.authorLigtenberg, Marjolijn
dc.contributor.authorOostenbrink, Rianne
dc.contributor.authorSijmons, Rolf
dc.contributor.authorEvans, Gareth
dc.contributor.authorWoodward, Emma
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.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.authorOliveira, Carla
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.accessioned2021-02-09T16:33:02Z
dc.date.available2021-02-09T16:33:02Z
dc.date.issued2020-06-12
dc.date.submitted2020-02-23
dc.identifier.issn1018-4813
dc.identifier.others41431-020-0651-7
dc.identifier.other651
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/317390
dc.description.abstractAbstract: PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
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/692/700/459/1748
dc.subject/692/699/67/68
dc.subjectarticle
dc.titleCancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
dc.typeArticle
dc.date.updated2021-02-09T16:33:01Z
prism.endingPage1393
prism.issueIdentifier10
prism.publicationNameEuropean Journal of Human Genetics
prism.startingPage1387
prism.volume28
dc.identifier.doi10.17863/CAM.64503
dcterms.dateAccepted2020-04-28
rioxxterms.versionofrecord10.1038/s41431-020-0651-7
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidTischkowitz, Marc [0000-0002-7880-0628]
dc.identifier.eissn1476-5438
pubs.funder-project-idCancer Research UK (CRUK) (C61296/A27223)


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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)