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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, JP
dc.contributor.authorChen, T-H
dc.contributor.authorWang, Q
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dc.contributor.authorYang, X
dc.contributor.authorAdank, MA
dc.contributor.authorAhearn, T
dc.contributor.authorAittomäki, K
dc.contributor.authorAllen, J
dc.contributor.authorAndrulis, IL
dc.contributor.authorAnton-Culver, H
dc.contributor.authorAntonenkova, NN
dc.contributor.authorArndt, V
dc.contributor.authorAronson, KJ
dc.contributor.authorAuer, PL
dc.contributor.authorAuvinen, P
dc.contributor.authorBarrdahl, M
dc.contributor.authorBeane Freeman, LE
dc.contributor.authorBeckmann, MW
dc.contributor.authorBehrens, S
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dc.contributor.authorBermisheva, M
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dc.contributor.authorBlomqvist, C
dc.contributor.authorBogdanova, NV
dc.contributor.authorBojesen, SE
dc.contributor.authorBonanni, B
dc.contributor.authorBørresen-Dale, A-L
dc.contributor.authorBrauch, H
dc.contributor.authorBremer, M
dc.contributor.authorBrenner, H
dc.contributor.authorBrentnall, A
dc.contributor.authorBrock, IW
dc.contributor.authorBrooks-Wilson, A
dc.contributor.authorBrucker, SY
dc.contributor.authorBrüning, T
dc.contributor.authorBurwinkel, B
dc.contributor.authorCampa, D
dc.contributor.authorCarter, BD
dc.contributor.authorCastelao, JE
dc.contributor.authorChanock, SJ
dc.contributor.authorChlebowski, R
dc.contributor.authorChristiansen, H
dc.contributor.authorClarke, CL
dc.contributor.authorCollée, JM
dc.contributor.authorCordina-Duverger, E
dc.contributor.authorCornelissen, S
dc.contributor.authorCouch, FJ
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorCzene, K
dc.contributor.authorDaly, MB
dc.contributor.authorDevilee, P
dc.contributor.authorDörk, T
dc.contributor.authorDos-Santos-Silva, I
dc.contributor.authorDumont, M
dc.contributor.authorDurcan, L
dc.contributor.authorDwek, M
dc.contributor.authorEccles, DM
dc.contributor.authorEkici, AB
dc.contributor.authorEliassen, AH
dc.contributor.authorEllberg, C
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dc.contributor.authorEriksson, M
dc.contributor.authorEvans, DG
dc.contributor.authorFasching, PA
dc.contributor.authorFigueroa, J
dc.contributor.authorFletcher, O
dc.contributor.authorFlyger, H
dc.contributor.authorFörsti, A
dc.contributor.authorFritschi, L
dc.contributor.authorGabrielson, M
dc.contributor.authorGago-Dominguez, M
dc.contributor.authorGapstur, SM
dc.contributor.authorGarcía-Sáenz, JA
dc.contributor.authorGaudet, MM
dc.contributor.authorGeorgoulias, V
dc.contributor.authorGiles, GG
dc.contributor.authorGilyazova, IR
dc.contributor.authorGlendon, G
dc.contributor.authorGoldberg, MS
dc.contributor.authorGoldgar, DE
dc.contributor.authorGonzález-Neira, A
dc.contributor.authorGrenaker Alnæs, GI
dc.contributor.authorGrip, M
dc.contributor.authorGronwald, J
dc.contributor.authorGrundy, A
dc.contributor.authorGuénel, P
dc.contributor.authorHaeberle, L
dc.contributor.authorHahnen, E
dc.contributor.authorHaiman, CA
dc.contributor.authorHåkansson, N
dc.contributor.authorHamann, U
dc.contributor.authorHankinson, SE
dc.contributor.authorHarkness, EF
dc.contributor.authorHart, SN
dc.contributor.authorHe, W
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dc.contributor.authorHoover, RN
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dc.contributor.authorJones, ME
dc.contributor.authorJukkola-Vuorinen, A
dc.contributor.authorJung, A
dc.contributor.authorKaaks, R
dc.contributor.authorKaczmarek, K
dc.contributor.authorKataja, V
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dc.contributor.authorKerin, MJ
dc.contributor.authorKhusnutdinova, E
dc.contributor.authorKiiski, JI
dc.contributor.authorKnight, JA
dc.contributor.authorKo, Y-D
dc.contributor.authorKosma, V-M
dc.contributor.authorKoutros, S
dc.contributor.authorKristensen, VN
dc.contributor.authorKrüger, U
dc.contributor.authorKühl, T
dc.contributor.authorLambrechts, D
dc.contributor.authorLe Marchand, L
dc.contributor.authorLee, E
dc.contributor.authorLejbkowicz, F
dc.contributor.authorLilyquist, J
dc.contributor.authorLindblom, A
dc.contributor.authorLindström, S
dc.contributor.authorLissowska, J
dc.contributor.authorLo, W-Y
dc.contributor.authorLoibl, S
dc.contributor.authorLong, J
dc.contributor.authorLubiński, J
dc.contributor.authorLux, MP
dc.contributor.authorMacInnis, RJ
dc.contributor.authorMaishman, T
dc.contributor.authorMakalic, E
dc.contributor.authorMaleva Kostovska, I
dc.contributor.authorMannermaa, A
dc.contributor.authorManoukian, S
dc.contributor.authorMargolin, S
dc.contributor.authorMartens, JWM
dc.contributor.authorMartinez, ME
dc.contributor.authorMavroudis, D
dc.contributor.authorMcLean, C
dc.contributor.authorMeindl, A
dc.contributor.authorMenon, U
dc.contributor.authorMiddha, P
dc.contributor.authorMiller, N
dc.contributor.authorMoreno, F
dc.contributor.authorMulligan, AM
dc.contributor.authorMulot, C
dc.contributor.authorMuñoz-Garzon, VM
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorNeven, P
dc.contributor.authorNewman, WG
dc.contributor.authorNielsen, SF
dc.contributor.authorNordestgaard, BG
dc.contributor.authorNorman, A
dc.contributor.authorOffit, K
dc.contributor.authorOlson, JE
dc.contributor.authorOlsson, H
dc.contributor.authorOrr, N
dc.contributor.authorPankratz, VS
dc.contributor.authorPark-Simon, T-W
dc.contributor.authorPerez, JIA
dc.contributor.authorPérez-Barrios, C
dc.contributor.authorPeterlongo, P
dc.contributor.authorPeto, J
dc.contributor.authorPinchev, M
dc.contributor.authorPlaseska-Karanfilska, D
dc.contributor.authorPolley, EC
dc.contributor.authorPrentice, R
dc.contributor.authorPresneau, N
dc.contributor.authorProkofyeva, D
dc.contributor.authorPurrington, K
dc.contributor.authorPylkäs, K
dc.contributor.authorRack, B
dc.contributor.authorRadice, P
dc.contributor.authorRau-Murthy, R
dc.contributor.authorRennert, G
dc.contributor.authorRennert, HS
dc.contributor.authorRhenius, V
dc.contributor.authorRobson, M
dc.contributor.authorRomero, A
dc.contributor.authorRuddy, KJ
dc.contributor.authorRuebner, M
dc.contributor.authorSaloustros, E
dc.contributor.authorSandler, DP
dc.contributor.authorSawyer, EJ
dc.contributor.authorSchmidt, DF
dc.contributor.authorSchmutzler, RK
dc.contributor.authorSchneeweiss, A
dc.contributor.authorSchoemaker, MJ
dc.contributor.authorSchumacher, F
dc.contributor.authorSchürmann, P
dc.contributor.authorSchwentner, L
dc.contributor.authorScott, C
dc.contributor.authorScott, RJ
dc.contributor.authorSeynaeve, C
dc.contributor.authorShah, M
dc.contributor.authorSherman, ME
dc.contributor.authorShrubsole, MJ
dc.contributor.authorShu, X-O
dc.contributor.authorSlager, S
dc.contributor.authorSmeets, A
dc.contributor.authorSohn, C
dc.contributor.authorSoucy, P
dc.contributor.authorSouthey, MC
dc.contributor.authorSpinelli, JJ
dc.contributor.authorStegmaier, C
dc.contributor.authorStone, J
dc.contributor.authorSwerdlow, AJ
dc.contributor.authorTamimi, RM
dc.contributor.authorTapper, WJ
dc.contributor.authorTaylor, JA
dc.contributor.authorTerry, MB
dc.contributor.authorThöne, K
dc.contributor.authorTollenaar, RAEM
dc.contributor.authorTomlinson, I
dc.contributor.authorTruong, T
dc.contributor.authorTzardi, M
dc.contributor.authorUlmer, H-U
dc.contributor.authorUntch, M
dc.contributor.authorVachon, CM
dc.contributor.authorvan Veen, EM
dc.contributor.authorVijai, J
dc.contributor.authorWeinberg, CR
dc.contributor.authorWendt, C
dc.contributor.authorWhittemore, AS
dc.contributor.authorWildiers, H
dc.contributor.authorWillett, W
dc.contributor.authorWinqvist, R
dc.contributor.authorWolk, A
dc.contributor.authorYang, XR
dc.contributor.authorYannoukakos, D
dc.contributor.authorZhang, Y
dc.contributor.authorZheng, W
dc.contributor.authorZiogas, A
dc.contributor.authorABCTB Investigators
dc.contributor.authorkConFab/AOCS Investigators
dc.contributor.authorNBCS Collaborators
dc.contributor.authorDunning, AM
dc.contributor.authorThompson, DJ
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorChang-Claude, J
dc.contributor.authorSchmidt, MK
dc.contributor.authorHall, P
dc.contributor.authorMilne, RL
dc.contributor.authorPharoah, PDP
dc.contributor.authorAntoniou, AC
dc.contributor.authorChatterjee, N
dc.contributor.authorKraft, P
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorSimard, J
dc.contributor.authorEaston, DF
dc.date.accessioned2019-01-02T14:02:24Z
dc.date.issued2019-01
dc.identifier.citationAmerican journal of human genetics, 2019, 104 (1), pp. 21 - 34
dc.identifier.issn0002-9297
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/2987
dc.identifier.eissn1537-6605
dc.identifier.doi10.1016/j.ajhg.2018.11.002
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.
dc.formatPrint-Electronic
dc.format.extent21 - 34
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectABCTB Investigators
dc.subjectkConFab/AOCS Investigators
dc.subjectNBCS Collaborators
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectReceptors, Estrogen
dc.subjectMedical History Taking
dc.subjectRisk Assessment
dc.subjectReproducibility of Results
dc.subjectAge Factors
dc.subjectMultifactorial Inheritance
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectMiddle Aged
dc.subjectFemale
dc.titlePolygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
dc.typeJournal Article
dcterms.dateAccepted2018-11-03
rioxxterms.versionofrecord10.1016/j.ajhg.2018.11.002
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by-nc-nd/4.0
rioxxterms.licenseref.startdate2019-01
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfAmerican journal of human genetics
pubs.issue1
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublished
pubs.volume104
pubs.embargo.termsNot known
icr.researchteamFunctional Genetic Epidemiologyen_US
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorFletcher, Oliviaen
dc.contributor.icrauthorSwerdlow, Anthonyen
dc.contributor.icrauthorSchoemaker, Minouken
dc.contributor.icrauthorJones, Michaelen


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