Show simple item record

dc.contributor.authorGarrett, Aen_US
dc.contributor.authorDurkie, Men_US
dc.contributor.authorCallaway, Aen_US
dc.contributor.authorBurghel, GJen_US
dc.contributor.authorRobinson, Ren_US
dc.contributor.authorDrummond, Jen_US
dc.contributor.authorTorr, Ben_US
dc.contributor.authorCubuk, Cen_US
dc.contributor.authorBerry, IRen_US
dc.contributor.authorWallace, AJen_US
dc.contributor.authorEllard, Sen_US
dc.contributor.authorEccles, DMen_US
dc.contributor.authorTischkowitz, Men_US
dc.contributor.authorHanson, Hen_US
dc.contributor.authorTurnbull, Cen_US
dc.contributor.authorCanVIG-UKen_US
dc.date.accessioned2020-11-20T16:42:57Z
dc.date.issued2020-11-18en_US
dc.identifier.citationJournal of medical genetics, 2020en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/4233
dc.identifier.eissn1468-6244en_US
dc.identifier.doi10.1136/jmedgenet-2020-107248en_US
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.en_US
dc.formatPrint-Electronicen_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.subjectCanVIG-UKen_US
dc.titleCombining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.en_US
dc.typeJournal Article
dcterms.dateAccepted2020-08-13en_US
rioxxterms.versionofrecord10.1136/jmedgenet-2020-107248en_US
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0en_US
rioxxterms.licenseref.startdate2020-11-18en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfJournal of medical geneticsen_US
pubs.notesNo embargoen_US
pubs.organisational-group/ICR
pubs.publication-statusPublisheden_US
pubs.embargo.termsNo embargoen_US
dc.contributor.icrauthorTurnbull, Clareen_US
dc.contributor.icrauthorGarrett, Aliceen_US
dc.contributor.icrauthorTorr, Bethanyen_US


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record

http://creativecommons.org/licenses/by/4.0/
Except where otherwise noted, this item's license is described as http://creativecommons.org/licenses/by/4.0/