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dc.contributor.authorLi, Hongyanen
dc.contributor.authorFeng, Bingjianen
dc.contributor.authorMiron, Alexanderen
dc.contributor.authorChen, Xiaoqingen
dc.contributor.authorBeesley, Jonathanen
dc.contributor.authorBimeh, Emmanuellaen
dc.contributor.authorBarrowdale, Danielen
dc.contributor.authorJohn, Esther Men
dc.contributor.authorDaly, Mary Ben
dc.contributor.authorAndrulis, Irene Len
dc.contributor.authorBuys, Saundra Sen
dc.contributor.authorKraft, Peteren
dc.contributor.authorkConFab, investigatorsen
dc.contributor.authorThorne, Heatheren
dc.contributor.authorChenevix-Trench, Georgiaen
dc.contributor.authorSouthey, Melissa Cen
dc.contributor.authorAntoniou, Antonisen
dc.contributor.authorJames, Paul Aen
dc.contributor.authorTerry, Mary Bethen
dc.contributor.authorPhillips, Kelly-Anneen
dc.contributor.authorHopper, John Len
dc.contributor.authorMitchell, Gillianen
dc.contributor.authorGoldgar, David Een
dc.date.accessioned2016-06-03T15:33:34Z
dc.date.available2016-06-03T15:33:34Z
dc.date.issued2016-05-12en
dc.identifier.issn1098-3600
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/256161
dc.description.abstractPurpose: This study examined the utility of sets of single-nucleotide polymorphisms (SNPs) in familial but non-BRCA-associated breast cancer (BC). Methods: We derived a polygenic risk score (PRS) based on 24 known BC risk SNPs for 4,365 women from the Breast Cancer Family Registry and Kathleen Cuningham Consortium Foundation for Research into Familial Breast Cancer familial BC cohorts. We compared scores for women based on cancer status at baseline; 2,599 women unaffected at enrollment were followed-up for an average of 7.4 years. Cox proportional hazards regression was used to analyze the association of PRS with BC risk. The BOADICEA risk prediction algorithm was used to measure risk based on family history alone. Results: The mean PRS at baseline was 2.25 (SD, 0.35) for affected women and was 2.17 (SD, 0.35) for unaffected women from combined cohorts (P < 10–6). During follow-up, 205 BC cases occurred. The hazard ratios for continuous PRS (per SD) and upper versus lower quintiles were 1.38 (95% confidence interval: 1.22–1.56) and 3.18 (95% confidence interval: 1.84–5.23) respectively. Based on their PRS-based predicted risk, management for up to 23% of women could be altered. Conclusion: Including BC-associated SNPs in risk assessment can provide more accurate risk prediction than family history alone and can influence recommendations for cancer screening and prevention modalities for high-risk women.
dc.description.sponsorshipNational Institutes of Health
dc.languageEnglishen
dc.language.isoenen
dc.publisherNature Publishing Group
dc.subjectbreast canceren
dc.subjectcancer screeningen
dc.subjectnon-BRCA-associateden
dc.subjectpolygenic risk scoreen
dc.subjectrisk predictionen
dc.titleBreast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFaben
dc.typeArticle
dc.description.versionThis is the author accepted manuscript. The final version is available from Nature Publishing Group via http://dx.doi.org/10.1038/gim.2016.43en
prism.publicationDate2016en
prism.publicationNameGenetics in Medicineen
dc.identifier.doi10.17863/CAM.102
dcterms.dateAccepted2016-02-23en
rioxxterms.versionofrecord10.1038/gim.2016.43en
rioxxterms.versionAMen
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2016-05-12en
dc.contributor.orcidAntoniou, Antonis [0000-0001-9223-3116]
dc.identifier.eissn1530-0366
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idNational Cancer Institute (NCI) (U19CA148065)
rioxxterms.freetoread.startdate2016-11-12


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