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dc.contributor.authorTaylor, Amyen
dc.contributor.authorBrady, Angela Fen
dc.contributor.authorFrayling, Ian Men
dc.contributor.authorHanson, Helenen
dc.contributor.authorTischkowitz, Marcen
dc.contributor.authorTurnbull, Clareen
dc.contributor.authorSide, Lucyen
dc.contributor.authorUK Cancer Genetics Group (UK-CGG),en
dc.date.accessioned2018-05-18T11:53:47Z
dc.date.available2018-05-18T11:53:47Z
dc.date.issued2018-06en
dc.identifier.issn0022-2593
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/275932
dc.description.abstractAbstract Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there is currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group (UK-CGG), facilitated a one-day workshop with representation from the majority of NHS Clinical Genetics Services. Using a pre-workshop survey followed by focused discussion of genes without prior majority agreement for inclusion, we achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS Genetics Services. To support consistency in the delivery of these tests and advice given to families across the country, we also developed management proposals for individuals who are found to have pathogenic mutations in these genes. However, we fully acknowledge that the decision regarding what test is most appropriate for an individual family rests with the clinician, and will depend on factors including specific phenotypic features and the family structure. Background NHS Clinical Genetics Services have in recent years taken advantage of the discovery of new genes and emerging evidence for associated cancer predisposition to carry out more extensive genetic testing via cancer gene panels, aiming to provide information and tailored management for more families with a hereditary cancer predisposition. However, there is much debate over the utility of testing genes for which there exists limited data regarding impact on cancer risk1, and the gradual evolution of these panels has led to discrepancies in the genes tested by different laboratories. This has resulted in differences between what is offered to patients, as well as difficulty in managing families where relatives are located in different parts of the country. For example, a relative may find that testing for the gene identified in their family is not offered in their region, or may be given different advice about risk management from that given to a relative with the same genetic variant. To address this, the UK Cancer Genetics Group (UK-CGG), supported by the UK Genetic Testing Network (UKGTN), facilitated a one-day workshop to achieve consensus for panels of cancer genes with clear clinical utility, to be adopted by all NHS Genetics Services. In addition, consensus guidelines for the management of individuals with pathogenic variants in these genes were subsequently developed.
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.publisherBritish Medical Association
dc.rightsAttribution-NonCommercial 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subjectUK Cancer Genetics Group (UK-CGG)en
dc.subjectHumansen
dc.subjectNeoplasmsen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenetic Counselingen
dc.subjectMutationen
dc.subjectGuidelines as Topicen
dc.subjectGenetic Testingen
dc.subjectUnited Kingdomen
dc.titleConsensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.en
dc.typeArticle
prism.endingPage377
prism.issueIdentifier6en
prism.publicationDate2018en
prism.publicationNameJournal of medical geneticsen
prism.startingPage372
prism.volume55en
dc.identifier.doi10.17863/CAM.23214
dcterms.dateAccepted2018-03-05en
rioxxterms.versionofrecord10.1136/jmedgenet-2017-105188en
rioxxterms.versionVoR*
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-06en
dc.contributor.orcidTaylor, Amy [0000-0001-9811-330X]
dc.contributor.orcidFrayling, Ian M [0000-0002-3420-0794]
dc.contributor.orcidTischkowitz, Marc [0000-0002-7880-0628]
dc.contributor.orcidTurnbull, Clare [0000-0002-1734-5772]
dc.identifier.eissn1468-6244
rioxxterms.typeJournal Article/Reviewen
cam.orpheus.successThu Jan 30 12:59:14 GMT 2020 - The item has an open VoR version.*
rioxxterms.freetoread.startdate2100-01-01


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