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dc.contributor.authorCust, Anne E
dc.contributor.authorDrummond, Martin
dc.contributor.authorKanetsky, Peter A
dc.contributor.authorGoldstein, Alisa M
dc.contributor.authorBarrett, Jennifer H
dc.contributor.authorMacGregor, Stuart
dc.contributor.authorLaw, Matthew H
dc.contributor.authorIles, Mark M
dc.contributor.authorBui, Minh
dc.contributor.authorHopper, John L
dc.contributor.authorBrossard, Myriam
dc.contributor.authorDemenais, Florence
dc.contributor.authorTaylor, John C
dc.contributor.authorHoggart, Clive
dc.contributor.authorBrown, Kevin M
dc.contributor.authorLandi, Maria Teresa
dc.contributor.authorNewton-Bishop, Julia A
dc.contributor.authorMann, Graham J
dc.contributor.authorBishop, D Timothy
dc.date.accessioned2019-08-22T03:34:44Z
dc.date.available2019-08-22T03:34:44Z
dc.date.issued2018
dc.identifier.issn0022-202X
dc.identifier.doi10.1016/j.jid.2018.05.023
dc.identifier.urihttp://hdl.handle.net/10072/384544
dc.description.abstractIt is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus, and other pathways) and their overlap with traditional risk factors, using data from two population-based case-control studies from Australia (n = 1,035) and the United Kingdom (n = 1,460) that used the same questionnaires. Polygenic risk scores were derived from 21 gene regions associated with melanoma and odds ratios from published meta-analyses. Logistic regression models were adjusted for age, sex, center, and ancestry. Adding the polygenic risk score to a model with traditional risk factors increased the area under the receiver operating characteristic curve (AUC) by 2.3% (P = 0.003) for Australia and by 2.8% (P = 0.002) for Leeds. Gene variants in the pigmentation pathway, particularly MC1R, were responsible for most of the incremental improvement. In a cross-tabulation of polygenic by traditional tertile risk scores, 59% (Australia) and 49% (Leeds) of participants were categorized in the same (concordant) tertile. Of participants with low traditional risk, 9% (Australia) and 21% (Leeds) had high polygenic risk. Testing of genomic variants can identify people who are susceptible to melanoma despite not having a traditional phenotypic risk profile.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofpagefrom2617
dc.relation.ispartofpageto2624
dc.relation.ispartofissue12
dc.relation.ispartofjournalJournal of Investigative Dermatology
dc.relation.ispartofvolume138
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchOncology and carcinogenesis
dc.subject.fieldofresearchcode3202
dc.subject.fieldofresearchcode3211
dc.titleAssessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttp://creativecommons.org/licenses/by/4.0/
dc.description.versionVersion of Record (VoR)
gro.rights.copyright© The Author(s) 2018. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
gro.hasfulltextFull Text
gro.griffith.authorAitken, Joanne


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