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dc.contributor.authorHo, Weang-Kee
dc.contributor.authorTai, Mei-Chee
dc.contributor.authorDennis, Joe
dc.contributor.authorShu, Xiang
dc.contributor.authorLi, Jingmei
dc.contributor.authorHo, Peh Joo
dc.contributor.authorMillwood, Iona Y
dc.contributor.authorLin, Kuang
dc.contributor.authorJee, Yon-Ho
dc.contributor.authorLee, Su-Hyun
dc.contributor.authorMavaddat, Nasim
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorWang, Qin
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorLong, Jirong
dc.contributor.authorWijaya, Eldarina Azfar
dc.contributor.authorHassan, Tiara
dc.contributor.authorRahmat, Kartini
dc.contributor.authorTan, Veronique Kiak Mien
dc.contributor.authorTan, Benita Kiat Tee
dc.contributor.authorTan, Su Ming
dc.contributor.authorTan, Ern Yu
dc.contributor.authorLim, Swee Ho
dc.contributor.authorGao, Yu-Tang
dc.contributor.authorZheng, Ying
dc.contributor.authorKang, Daehee
dc.contributor.authorChoi, Ji-Yeob
dc.contributor.authorHan, Wonshik
dc.contributor.authorLee, Han-Byoel
dc.contributor.authorKubo, Michiki
dc.contributor.authorOkada, Yukinori
dc.contributor.authorNamba, Shinichi
dc.contributor.authorBioBank Japan Project
dc.contributor.authorPark, Sue K
dc.contributor.authorKim, Sung-Won
dc.contributor.authorShen, Chen-Yang
dc.contributor.authorWu, Pei-Ei
dc.contributor.authorPark, Boyoung
dc.contributor.authorMuir, Kenneth R
dc.contributor.authorLophatananon, Artitaya
dc.contributor.authorWu, Anna H
dc.contributor.authorTseng, Chiu-Chen
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorIto, Hidemi
dc.contributor.authorKwong, Ava
dc.contributor.authorChan, Tsun L
dc.contributor.authorJohn, Esther M
dc.contributor.authorKurian, Allison W
dc.contributor.authorIwasaki, Motoki
dc.contributor.authorYamaji, Taiki
dc.contributor.authorKweon, Sun-Seog
dc.contributor.authorAronson, Kristan J
dc.contributor.authorMurphy, Rachel A
dc.contributor.authorKoh, Woon-Puay
dc.contributor.authorKhor, Chiea-Chuen
dc.contributor.authorYuan, Jian-Min
dc.contributor.authorDorajoo, Rajkumar
dc.contributor.authorWalters, Robin G
dc.contributor.authorChen, Zhengming
dc.contributor.authorLi, Liming
dc.contributor.authorLv, Jun
dc.contributor.authorJung, Keum-Ji
dc.contributor.authorKraft, Peter
dc.contributor.authorPharoah, Paul
dc.contributor.authorDunning, Alison M
dc.contributor.authorSimard, Jacques
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorYip, Cheng-Har
dc.contributor.authorTaib, Nur Aishah Mohd
dc.contributor.authorAntoniou, Antonis
dc.contributor.authorZheng, Wei
dc.contributor.authorHartman, Mikael
dc.contributor.authorEaston, Douglas
dc.contributor.authorTeo, Soo-Hwang
dc.date.accessioned2021-12-21T00:32:55Z
dc.date.available2021-12-21T00:32:55Z
dc.date.issued2022-03
dc.identifier.issn1098-3600
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/331659
dc.description.abstractPURPOSE: Non-European populations are under-represented in genetics studies, hindering clinical implementation of breast cancer polygenic risk scores (PRSs). We aimed to develop PRSs using the largest available studies of Asian ancestry and to assess the transferability of PRS across ethnic subgroups. METHODS: The development data set comprised 138,309 women from 17 case-control studies. PRSs were generated using a clumping and thresholding method, lasso penalized regression, an Empirical Bayes approach, a Bayesian polygenic prediction approach, or linear combinations of multiple PRSs. These PRSs were evaluated in 89,898 women from 3 prospective studies (1592 incident cases). RESULTS: The best performing PRS (genome-wide set of single-nucleotide variations [formerly single-nucleotide polymorphism]) had a hazard ratio per unit SD of 1.62 (95% CI = 1.46-1.80) and an area under the receiver operating curve of 0.635 (95% CI = 0.622-0.649). Combined Asian and European PRSs (333 single-nucleotide variations) had a hazard ratio per SD of 1.53 (95% CI = 1.37-1.71) and an area under the receiver operating curve of 0.621 (95% CI = 0.608-0.635). The distribution of the latter PRS was different across ethnic subgroups, confirming the importance of population-specific calibration for valid estimation of breast cancer risk. CONCLUSION: PRSs developed in this study, from association data from multiple ancestries, can enhance risk stratification for women of Asian ancestry.
dc.publisherElsevier BV
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectBreast cancer
dc.subjectGenetic
dc.subjectPolygenic risk score
dc.subjectRisk prediction
dc.titlePolygenic risk scores for prediction of breast cancer risk in Asian populations.
dc.typeArticle
dc.publisher.departmentDepartment of Public Health And Primary Care, Cancer Genetic Epidemiology
dc.date.updated2021-12-20T14:23:08Z
prism.publicationDate2021
prism.publicationNameGenet Med
dc.identifier.doi10.17863/CAM.79110
dcterms.dateAccepted2021-11-09
rioxxterms.versionofrecord10.1016/j.gim.2021.11.008
rioxxterms.versionAM
dc.contributor.orcidDennis, Joe [0000-0003-4591-1214]
dc.contributor.orcidMavaddat, Nasim [0000-0003-0307-055X]
dc.contributor.orcidPharoah, Paul [0000-0001-8494-732X]
dc.contributor.orcidAntoniou, Antonis [0000-0001-9223-3116]
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.identifier.eissn1530-0366
rioxxterms.typeJournal Article/Review
pubs.funder-project-idNational Cancer Institute (U19CA148065)
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Societal Challenges (634935)
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Societal Challenges (633784)
pubs.funder-project-idCancer Research UK (A16563)
pubs.funder-project-idCancer Research UK (A10118)
pubs.funder-project-idCancer Research UK (20861)
pubs.funder-project-idWellcome Trust (203477/B/16/Z)
pubs.funder-project-idNational Cancer Institute (U19CA148537)
pubs.funder-project-idNational Cancer Institute (R01CA128978)
pubs.funder-project-idMedical Research Council (MR/P012930/1)
pubs.funder-project-idEuropean Commission (223175)
pubs.funder-project-idWellcome Trust (203477/Z/16/Z)
pubs.funder-project-idCancer Research UK (A10710)
pubs.funder-project-idCancer Research UK (A12014)
cam.issuedOnline2021-12-15
cam.orpheus.success2021-12-20 - Embargo set during processing via Fast-track
cam.depositDate2021-12-20
pubs.licence-identifierapollo-deposit-licence-2-1
pubs.licence-display-nameApollo Repository Deposit Licence Agreement


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International