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dc.contributor.authorMavaddat, N.
dc.contributor.authorMichailidou, K.
dc.contributor.authorDennis, J.
dc.contributor.authorLush, M.
dc.contributor.authorFachal, L.
dc.contributor.authorLee, A.
dc.contributor.authorTyrer, J. P.
dc.contributor.authorChen, T. H.
dc.contributor.authorWang, Q.
dc.contributor.authorBolla, M. K.
dc.contributor.authorYang, X.
dc.contributor.authorAdank, M. A.
dc.contributor.authorAhearn, T.
dc.contributor.authorAittomaki, K.
dc.contributor.authorAllen, J.
dc.contributor.authorAndrulis, I. L.
dc.contributor.authorAnton-Culver, H.
dc.contributor.authorAntonenkova, N. N.
dc.contributor.authorArndt, V.
dc.contributor.authorAronson, K. J.
dc.contributor.authorAuer, P. L.
dc.contributor.authorAuvinen, P.
dc.contributor.authorBarrdahl, M.
dc.contributor.authorBeane Freeman, L. E.
dc.contributor.authorBeckmann, M. W.
dc.contributor.authorBehrens, S.
dc.contributor.authorBenitez, J.
dc.contributor.authorBermisheva, M.
dc.contributor.authorBernstein, L.
dc.contributor.authorBlomqvist, C.
dc.contributor.authorBogdanova, N. V.
dc.contributor.authorBojesen, S. E.
dc.contributor.authorBonanni, B.
dc.contributor.authorBorresen-Dale, A. L.
dc.contributor.authorBrauch, H.
dc.contributor.authorBremer, M.
dc.contributor.authorBrenner, H.
dc.contributor.authorBrentnall, A.
dc.contributor.authorBrock, I. W.
dc.contributor.authorBrooks-Wilson, A.
dc.contributor.authorBrucker, S. Y.
dc.contributor.authorBruning, T.
dc.contributor.authorBurwinkel, B.
dc.contributor.authorCampa, D.
dc.contributor.authorCarter, B. D.
dc.contributor.authorCastelao Fernández, José Esteban 
dc.contributor.authorChanock, S. J.
dc.contributor.authorChlebowski, R.
dc.contributor.authorChristiansen, H.
dc.contributor.authorClarke, C. L.
dc.contributor.authorCollee, J. M.
dc.contributor.authorCordina-Duverger, E.
dc.contributor.authorCornelissen, S.
dc.contributor.authorCouch, F. J.
dc.contributor.authorCox, A.
dc.contributor.authorCross, S. S.
dc.contributor.authorCzene, K.
dc.contributor.authorDaly, M. B.
dc.contributor.authorDevilee, P.
dc.contributor.authorDork, T.
dc.contributor.authorDos-Santos-Silva, I.
dc.contributor.authorDumont, M.
dc.contributor.authorDurcan, L.
dc.contributor.authorDwek, M.
dc.contributor.authorEccles, D. M.
dc.contributor.authorEkici, A. B.
dc.contributor.authorEliassen, A. H.
dc.contributor.authorEllberg, C.
dc.contributor.authorEngel, C.
dc.contributor.authorEriksson, M.
dc.contributor.authorEvans, D. G.
dc.contributor.authorFasching, P. A.
dc.contributor.authorFigueroa, J.
dc.contributor.authorFletcher, O.
dc.contributor.authorFlyger, H.
dc.contributor.authorForsti, A.
dc.contributor.authorFritschi, L.
dc.contributor.authorGabrielson, M.
dc.contributor.authorGago Dominguez, Manuela
dc.contributor.authorGapstur, S. M.
dc.contributor.authorGarcia-Saenz, J. A.
dc.contributor.authorGaudet, M. M.
dc.contributor.authorGeorgoulias, V.
dc.contributor.authorGiles, G. G.
dc.contributor.authorGilyazova, I. R.
dc.contributor.authorGlendon, G.
dc.contributor.authorGoldberg, M. S.
dc.contributor.authorGoldgar, D. E.
dc.contributor.authorGonzalez-Neira, A.
dc.contributor.authorGrenaker Alnaes, G. I.
dc.contributor.authorGrip, M.
dc.contributor.authorGronwald, J.
dc.contributor.authorGrundy, A.
dc.contributor.authorGuenel, P.
dc.contributor.authorHaeberle, L.
dc.contributor.authorHahnen, E.
dc.contributor.authorHaiman, C. A.
dc.contributor.authorHakansson, N.
dc.contributor.authorHamann, U.
dc.contributor.authorHankinson, S. E.
dc.contributor.authorMuñoz Garzón, Victor 
dc.contributor.authorothers
dc.date.accessioned2021-09-29T12:42:26Z
dc.date.available2021-09-29T12:42:26Z
dc.date.issued2019
dc.identifier.issn0002-9297
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/30554720es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15362
dc.description.abstractStratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.en
dc.language.isoeng
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.meshAdult*
dc.subject.meshRisk Assessment*
dc.subject.meshBreast Neoplasms*
dc.subject.meshReproducibility of Results*
dc.subject.meshMiddle Aged*
dc.subject.meshHumans*
dc.subject.meshMultifactorial Inheritance*
dc.subject.meshGenetic Predisposition to Disease*
dc.subject.meshAged*
dc.subject.meshMedical History Taking*
dc.titlePolygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypeses
dc.typeArtigoes
dc.authorsophosMavaddat, N.
dc.authorsophosMichailidou, K.
dc.authorsophosDennis, J.
dc.authorsophosLush, M.
dc.authorsophosFachal, L.
dc.authorsophosLee, A.
dc.authorsophosTyrer, J. P.
dc.authorsophosChen, T. H.
dc.authorsophosWang, Q.
dc.authorsophosBolla, M. K.
dc.authorsophosYang, X.
dc.authorsophosAdank, M. A.
dc.authorsophosAhearn, T.
dc.authorsophosAittomaki, K.
dc.authorsophosAllen, J.
dc.authorsophosAndrulis, I. L.
dc.authorsophosAnton-Culver, H.
dc.authorsophosAntonenkova, N. N.
dc.authorsophosArndt, V.
dc.authorsophosAronson, K. J.
dc.authorsophosAuer, P. L.
dc.authorsophosAuvinen, P.
dc.authorsophosBarrdahl, M.
dc.authorsophosBeane Freeman, L. E.
dc.authorsophosBeckmann, M. W.
dc.authorsophosBehrens, S.
dc.authorsophosBenitez, J.
dc.authorsophosBermisheva, M.
dc.authorsophosBernstein, L.
dc.authorsophosBlomqvist, C.
dc.authorsophosBogdanova, N. V.
dc.authorsophosBojesen, S. E.
dc.authorsophosBonanni, B.
dc.authorsophosBorresen-Dale, A. L.
dc.authorsophosBrauch, H.
dc.authorsophosBremer, M.
dc.authorsophosBrenner, H.
dc.authorsophosBrentnall, A.
dc.authorsophosBrock, I. W.
dc.authorsophosBrooks-Wilson, A.
dc.authorsophosBrucker, S. Y.
dc.authorsophosBruning, T.
dc.authorsophosBurwinkel, B.
dc.authorsophosCampa, D.
dc.authorsophosCarter, B. D.
dc.authorsophosCastelao, J. E.
dc.authorsophosChanock, S. J.
dc.authorsophosChlebowski, R.
dc.authorsophosChristiansen, H.
dc.authorsophosClarke, C. L.
dc.authorsophosCollee, J. M.
dc.authorsophosCordina-Duverger, E.
dc.authorsophosCornelissen, S.
dc.authorsophosCouch, F. J.
dc.authorsophosCox, A.
dc.authorsophosCross, S. S.
dc.authorsophosCzene, K.
dc.authorsophosDaly, M. B.
dc.authorsophosDevilee, P.
dc.authorsophosDork, T.
dc.authorsophosDos-Santos-Silva, I.
dc.authorsophosDumont, M.
dc.authorsophosDurcan, L.
dc.authorsophosDwek, M.
dc.authorsophosEccles, D. M.
dc.authorsophosEkici, A. B.
dc.authorsophosEliassen, A. H.
dc.authorsophosEllberg, C.
dc.authorsophosEngel, C.
dc.authorsophosEriksson, M.
dc.authorsophosEvans, D. G.
dc.authorsophosFasching, P. A.
dc.authorsophosFigueroa, J.
dc.authorsophosFletcher, O.
dc.authorsophosFlyger, H.
dc.authorsophosForsti, A.
dc.authorsophosFritschi, L.
dc.authorsophosGabrielson, M.
dc.authorsophosGago-Dominguez, M.
dc.authorsophosGapstur, S. M.
dc.authorsophosGarcia-Saenz, J. A.
dc.authorsophosGaudet, M. M.
dc.authorsophosGeorgoulias, V.
dc.authorsophosGiles, G. G.
dc.authorsophosGilyazova, I. R.
dc.authorsophosGlendon, G.
dc.authorsophosGoldberg, M. S.
dc.authorsophosGoldgar, D. E.
dc.authorsophosGonzalez-Neira, A.
dc.authorsophosGrenaker Alnaes, G. I.
dc.authorsophosGrip, M.
dc.authorsophosGronwald, J.
dc.authorsophosGrundy, A.
dc.authorsophosGuenel, P.
dc.authorsophosHaeberle, L.
dc.authorsophosHahnen, E.
dc.authorsophosHaiman, C. A.
dc.authorsophosHakansson, N.
dc.authorsophosHamann, U.
dc.authorsophosHankinson, S. E.
dc.authorsophosothers
dc.identifier.doi10.1016/j.ajhg.2018.11.002
dc.identifier.pmid30554720
dc.identifier.sophos27704
dc.issue.number1es
dc.journal.titleAMERICAN JOURNAL OF HUMAN GENETICSes
dc.organizationServizo Galego de Saúde::Dirección Xeral de Asistencia Sanitaria::Fundación Pública Galega de Medicina Xenómica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Radiodiagnóstico
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)
dc.relation.publisherversionhttps://escholarship.org/content/qt18w5121s/qt18w5121s.pdf?t=pwmwyf
dc.rights.accessRightsopenAccess
dc.subject.decsanamnesis*
dc.subject.decsanciano*
dc.subject.decsneoplasias de la mama*
dc.subject.decsmediana edad*
dc.subject.decsevaluación de riesgos*
dc.subject.decsreproducibilidad de resultados*
dc.subject.decshumanos*
dc.subject.decsadulto*
dc.subject.decsherencia multifactorial*
dc.subject.decspredisposición genética a la enfermedad*
dc.subject.keywordFPGMX
dc.subject.keywordCHUS
dc.subject.keywordIDIS
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number104es


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