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dc.contributor.authorDurkie, Miranda
dc.contributor.authorCallaway, Alison
dc.contributor.authorBurghel, George J
dc.contributor.authorRobinson, Rachel
dc.contributor.authorDrummond, James
dc.contributor.authorTorr, Bethany
dc.contributor.authorCubuk, Cankut
dc.contributor.authorBerry, Ian R
dc.contributor.authorWallace, Andrew J
dc.contributor.authorEllard, Sian
dc.contributor.authorEccles, Diana M
dc.contributor.authorTischkowitz, Marc
dc.contributor.authorHanson, Helen
dc.contributor.authorTurnbull, Clare
dc.contributor.authorCanVIG-UK
dc.contributor.authorAbbs, Stephen
dc.contributor.authorTarpey, Patrick
dc.contributor.authorBruty, Jonathan
dc.contributor.authorWhitworth, James
dc.contributor.authorBowden, Anne Ramsay
dc.contributor.authorTischowitz, Marc
dc.contributor.authorMaher, Eamonn
dc.contributor.authorHeggarty, Shirley
dc.contributor.authorHegarty, Sean
dc.contributor.authorMartin, Rosalind
dc.contributor.authorLogan, Peter
dc.contributor.authorByrne, Claire
dc.contributor.authorWallis, Yvonne
dc.contributor.authorButler, Samantha
dc.contributor.authorHart, Rachel
dc.contributor.authorHughes, Lowri
dc.contributor.authorReay, Kim
dc.contributor.authorOng, Kai-Ren
dc.contributor.authorMason, Joanne
dc.contributor.authorTomlinson, Ian
dc.contributor.authorFrayling, Ian
dc.contributor.authorPalmer-Smith, Sheila
dc.contributor.authorSampson, Julian
dc.contributor.authorMurray, Alex
dc.contributor.authorAhmed, Munaza
dc.contributor.authorKiely, Louise
dc.contributor.authorBusby, Louise
dc.contributor.authorBrooks, Claire
dc.contributor.authorTaylor-Beadling, Alison
dc.contributor.authorKumar, Ajith
dc.contributor.authorTripathi, Vishakha
dc.contributor.authorRyten, Mina
dc.contributor.authorIzatt, Louise
dc.contributor.authorKulkarni, Anjana
dc.contributor.authorShaw, Adam
dc.contributor.authorCampbell, Joanna
dc.contributor.authorThomas, Huw
dc.contributor.authorChubb, Daniel
dc.contributor.authorMullaney, Brendan
dc.contributor.authorAdlard, Julian
dc.contributor.authorGreenhalgh, Karen-Lynn
dc.contributor.authorHoward, Emma
dc.contributor.authorClowes, Virginia
dc.contributor.authorBrady, Angela
dc.contributor.authorBurghel, George
dc.contributor.authorWoodward, Emma
dc.contributor.authorSmith, Philip T
dc.contributor.authorHarris, Jade L
dc.contributor.authorBowers, Naomi L
dc.contributor.authorHartley, Claire L
dc.contributor.authorWright, Ronnie
dc.contributor.authorEvans, Gareth
dc.contributor.authorLalloo, Fiona
dc.contributor.authorWallace, Andrew
dc.contributor.authorBurn, John
dc.contributor.authorTellez, James
dc.contributor.authorMackenzie, Sarah
dc.contributor.authorPowell, Helen
dc.contributor.authorTennant, Stephen
dc.contributor.authorTolmie, Joanna
dc.contributor.authorO’Sullivan, Dawn
dc.contributor.authorDavidson, Rosemarie
dc.contributor.authorGrant, Jonathan
dc.contributor.authorStobo, Daniel
dc.contributor.authorAnsari, Aisha
dc.contributor.authorTredwell, Rachael
dc.contributor.authorField, Joanne
dc.contributor.authorBradshaw, Kirsty
dc.contributor.authorHarrison, Rachel
dc.contributor.authorWalker, Logan
dc.contributor.authorMcdevitt, Trudi
dc.contributor.authorDuff, Marie
dc.contributor.authorClabby, Catherine
dc.contributor.authorCranston, Treena
dc.contributor.authorBedenham, Tina
dc.contributor.authorPetrides, Evgenia
dc.contributor.authorHawkes, Lara
dc.contributor.authorMcRonald, Fiona
dc.contributor.authorCleaver, Ruth
dc.contributor.authorBrewer, Carole
dc.contributor.authorWoodwaer, Nick
dc.contributor.authorDaniels, Stacey
dc.contributor.authorTobal, Khalid
dc.contributor.authorAlbaba, Shadi
dc.contributor.authorDell, Sarah
dc.contributor.authorNyanhete, Rodney
dc.contributor.authorKirk, Richard
dc.contributor.authorWatson, Mark
dc.contributor.authorCook, Jackie
dc.contributor.authorClouston, Hazel
dc.contributor.authorHogg, Anne-Cecile
dc.contributor.authorTalukdar, Sabrina
dc.contributor.authorHawkes, Lorraine
dc.contributor.authorCobbold, Laura
dc.contributor.authorTatton-Brown, Kate
dc.contributor.authorSnape, Katie
dc.contributor.authorCrosby, Charlene
dc.contributor.authorJimenez, Ayaovi
dc.contributor.authorKemp, Zoe
dc.contributor.authorMcveigh, Terri
dc.contributor.authorGarrett, Alice
dc.contributor.authorO’Brien, Cathal
dc.contributor.authorYarram, Laura
dc.contributor.authorSmith, Kenneth
dc.contributor.authorWilliamson, Helen
dc.contributor.authorDonaldson, Alan
dc.contributor.authorBarwell, Julian
dc.contributor.authorBradford, Matilda
dc.contributor.authorSide, Lucy
dc.contributor.authorEccles, Diana
dc.contributor.authorBaralle, Diana
dc.contributor.authorLucassen, Anneke
dc.date.accessioned2020-11-20T12:07:49Z
dc.date.available2020-11-20T12:07:49Z
dc.date.issued2020-11-18
dc.date.submitted2020-06-05
dc.identifier.issn0022-2593
dc.identifier.otherjmedgenet-2020-107248
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/313147
dc.description.abstractAccurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence has been much improved by the American College of Medical Genetics (ACMG) 2015 framework for variant classification, UK Association for Clinical Genomic Science (UK-ACGS) Best Practice Guidelines and subsequent Cancer Variant Interpretation Group UK (CanVIG-UK) consensus specification for CSGs. However, considerable inconsistency persists regarding practice in the combination of evidence elements. CanVIG-UK is a national subspecialist multidisciplinary network for cancer susceptibility genomic variant interpretation, comprising clinical scientist and clinical geneticist representation from each of the 25 diagnostic laboratories/clinical genetic units across the UK and Republic of Ireland. Here, we summarise the aggregated evidence elements and combinations possible within different variant classification schemata currently employed for CSGs (ACMG, UK-ACGS, CanVIG-UK and ClinGen gene-specific guidance for PTEN, TP53 and CDH1). We present consensus recommendations from CanVIG-UK regarding (1) consistent scoring for combinations of evidence elements using a validated numerical ‘exponent score’ (2) new combinations of evidence elements constituting likely pathogenic’ and ‘pathogenic’ classification categories, (3) which evidence elements can and cannot be used in combination for specific variant types and (4) classification of variants for which there are evidence elements for both pathogenicity and benignity.
dc.languageen
dc.publisherBMJ Publishing Group
dc.rightsEmbargo: ends 2020-11-18
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectPosition statement
dc.subject1506
dc.subjectgenetics
dc.subjectgenomics
dc.subjectgenetic testing
dc.subjectmedical
dc.subjectgenetic variation
dc.titleCombining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
dc.typeArticle
dc.date.updated2020-11-20T12:07:48Z
prism.publicationNameJournal of Medical Genetics
dc.identifier.doi10.17863/CAM.60251
dcterms.dateAccepted2020-08-13
rioxxterms.versionofrecord10.1136/jmedgenet-2020-107248
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
rioxxterms.licenseref.startdate2020-11-18
dc.contributor.orcidGarrett, Alice [0000-0001-8942-283X]
dc.contributor.orcidBurghel, George J [0000-0001-9360-8194]
dc.contributor.orcidBerry, Ian R [0000-0002-9710-4724]
dc.contributor.orcidEccles, Diana M [0000-0002-9935-3169]
dc.identifier.eissn1468-6244
pubs.funder-project-idCancer Research UK (C61296/A27223)
rioxxterms.freetoread.startdate2020-11-18


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Embargo: ends 2020-11-18
Except where otherwise noted, this item's licence is described as Embargo: ends 2020-11-18