ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Polygenic risk scores for prediction of breast cancer risk in Asian populations.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- A systematic review of prediction models for risk of breast cancer.BMC cancer · 2025Pooled it
- A meta-analysis and polygenic score study identifies novel genetic markers for waist-hip ratio in African populations.Obesity (Silver Spring, Md.) · 2024Pooled it
- Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.Genome medicine · 2025Trial
- Genetic and lifestyle factors for breast cancer risk assessment in Southeast China.Cancer medicine · 2023Trial
- Attributable breast cancer burden in Malaysia: mammographic density, lifestyle, and hereditary factors.Cancer causes & control : CCC · 2026Article
- Artificial Intelligence and Genomic Data Analysis: New Frontiers in Precision Medicine.International journal of molecular sciences · 2026Review
- BRCA Testing in Asian Patients with Ovarian Cancer: Standard Clinical Practice or Mutation Prediction Model?Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Contextualizing the Utility of Polygenic Risk Scores using Absolute Risk Models in Diverse Ancestry Populations.medRxiv : the preprint server for health sciences · 2026Article
- Polygenic Risk Scores for Breast Cancer Among African American Women With High Risk.JAMA network open · 2026Article
- Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts.European journal of human genetics : EJHG · 2026Article
- A context-specific evaluation of polygenic embryo screening in best-prognosis preimplantation genetic testing cycles.Human reproduction open · 2026Article
- Population-specific optimization of polygenic risk scores for breast cancer in East Asians.Genetics in medicine open · 2026Article
- Genomic platform specific polygenic risk scores impact breast cancer risk stratification.Communications medicine · 2025Article
- Within-family analysis of PRSJournal, genetic engineering & biotechnology · 2025Article
- Genome-wide association study of Asian women identifies putative mammographic density-associated loci.Breast cancer research : BCR · 2025Article
- Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population.British journal of cancer · 2025Article
- Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers.NPJ breast cancer · 2025Article
- The clinical and molecular landscape of breast cancer in women of African and South Asian ancestry.Nature communications · 2025Article
- Recent advances in breast cancer screening and treatment in the Western Pacific: challenges and opportunities.The Lancet regional health. Western Pacific · 2025Article
- Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.medRxiv : the preprint server for health sciences · 2025Article
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Authors and funding
74 authors at 20 institutions in 12 countries.
Weang-Kee HoSchool of Mathematical Sciences, Faculty of Science and Engineering, University of Nottingham Malaysia, Selangor, Malaysia; Cancer Research Malaysia, Selangor, Malaysia. Electronic address: WeangKee.Ho@nottingham.edu.my.
Mei-Chee TaiCancer Research Malaysia, Selangor, Malaysia.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Xiang ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN; Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.
Jingmei LiDepartment of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore; Genome Institute of Singapore, Laboratory of Women's Health and Genetics, Singapore, Singapore.
Peh Joo HoGenome Institute of Singapore, Laboratory of Women's Health and Genetics, Singapore, Singapore.
Iona Y MillwoodNuffield Department of Population Health, University of Oxford, Oxford, United Kingdom; MRC Population Health Research Unit, University of Oxford, Oxford, United Kingdom.
Kuang LinNuffield Department of Population Health, University of Oxford, Oxford, United Kingdom.
Yon-Ho JeeDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA.
Su-Hyun LeeGraduate School of Public Health, Yonsei University, Seoul, Korea.
Nasim MavaddatCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Ayios Dometios, Cyprus; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, Ayios Dometios, Cyprus.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN.
Eldarina Azfar WijayaCancer Research Malaysia, Selangor, Malaysia.
Tiara HassanCancer Research Malaysia, Selangor, Malaysia.
Kartini RahmatBiomedical Imaging Department, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Veronique Kiak Mien TanDepartment of Breast Surgery, Singapore General Hospital, Singapore, Singapore; Division of Surgery and Surgical Oncology, National Cancer Center Singapore, Singapore, Singapore.
Benita Kiat Tee TanDepartment of Breast Surgery, Singapore General Hospital, Singapore, Singapore; Division of Surgery and Surgical Oncology, National Cancer Center Singapore, Singapore, Singapore; Department of General Surgery, Sengkang General Hospital, Singapore, Singapore.
Su Ming TanDivision of Breast Surgery, Changi General Hospital, Singapore, Singapore.
Ern Yu TanDepartment of General Surgery, Tan Tock Seng Hospital, Singapore, Singapore.
Swee Ho LimKK Breast Department, KK Women's and Children's Hospital, Singapore, Singapore.
Yu-Tang GaoState Key Laboratory of Oncogene and Related Genes & Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Ying ZhengShanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
Daehee KangDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea; Cancer Research Institute, Seoul National University, Seoul, Korea.
Ji-Yeob ChoiCancer Research Institute, Seoul National University, Seoul, Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea; Institute of Health Policy and Management, Medical Research Center, Seoul National University, Seoul, Korea.
Wonshik HanCancer Research Institute, Seoul National University, Seoul, Korea; Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea.
Han-Byoel LeeCancer Research Institute, Seoul National University, Seoul, Korea; Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea.
Michiki KuboRIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan.
Yukinori OkadaDepartment of Statistical Genetics, Graduate School of Medicine, Faculty of Medicine, Osaka University, Suita, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, Japan; Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan.
Shinichi NambaDepartment of Statistical Genetics, Graduate School of Medicine, Faculty of Medicine, Osaka University, Suita, Japan.
BioBank Japan ProjectInstitute of Medical Science, The University of Tokyo, Tokyo, Japan.
Sue K ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea; Cancer Research Institute, Seoul National University, Seoul, Korea; Integrated Major in Innovative Medical Science, Seoul National University College of Medicine, Seoul, Korea.
Sung-Won KimDepartment of Surgery, Daerim Saint Mary's Hospital, Seoul, Korea.
Chen-Yang ShenInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Pei-Ei WuInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Boyoung ParkDepartment of Medicine, Hanyang University College of Medicine, Seoul, Korea.
Kenneth R MuirDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, The University of Manchester, Manchester, United Kingdom.
Artitaya LophatananonDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, The University of Manchester, Manchester, United Kingdom.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA.
Chiu-Chen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA.
Keitaro MatsuoDivision of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan; Division of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Hidemi ItoDivision of Cancer Information and Control, Aichi Cancer Center Research Institute, Nagoya, Japan; Division of Descriptive Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya University, Nagoya, Japan.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong; Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong; Department of Surgery, Hong Kong Sanatorium & Hospital, Happy Valley, Hong Kong.
Tsun L ChanHong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong; Department of Pathology, Hong Kong Sanatorium & Hospital, Happy Valley, Hong Kong.
Esther M JohnDivision of Oncology, Department of Medicine, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA; Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA.
Allison W KurianDivision of Oncology, Department of Medicine, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA; Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA.
Motoki IwasakiDivision of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
Taiki YamajiDivision of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
Sun-Seog KweonDepartment of Preventive Medicine, Chonnam National University Medical School, Hwasun, Korea; Jeonnam Regional Cancer Center, Chonnam National University Hwasun Hospital, Hwasun, Korea.
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute, School of Medicine, Queen's University, Kingston, Ontario, Canada.
Rachel A MurphyCancer Control Research, BC Cancer, Vancouver, British Columbia, Canada; School of Population and Public Health, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.
Woon-Puay KohHealthy Longevity Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.
Chiea-Chuen KhorGenome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.
Jian-Min YuanDivision of Cancer Control and Population Sciences, UPMC Hillman Cancer Center, University of Pittsburgh, Pittsburgh, PA; Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA.
Rajkumar DorajooGenome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore; Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore.
Robin G WaltersNuffield Department of Population Health, University of Oxford, Oxford, United Kingdom; MRC Population Health Research Unit, University of Oxford, Oxford, United Kingdom.
Zhengming ChenNuffield Department of Population Health, University of Oxford, Oxford, United Kingdom; MRC Population Health Research Unit, University of Oxford, Oxford, United Kingdom.
Liming LiDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China.
Jun LvDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China.
Keum-Ji JungInstitute for Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, Korea.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA.
Paul D B PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
Jacques SimardGenomics Center, CHU de Québec-Université Laval Research Center, Quebec City, Quebec, Canada.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN.
Cheng-Har YipSubang Jaya Medical Centre, Selangor, Malaysia.
Nur Aishah Mohd TaibDepartment of Surgery, Faculty of Medicine, University of Malaya Centre, UM Cancer Research Institute, Kuala Lumpur, Malaysia.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN.
Mikael HartmanDepartment of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
Soo-Hwang TeoCancer Research Malaysia, Selangor, Malaysia; Department of Surgery, Faculty of Medicine, University of Malaya Centre, UM Cancer Research Institute, Kuala Lumpur, Malaysia. Electronic address: soohwang.teo@cancerresearch.my.
University of Cambridge · GBCancer Research Malaysia · MYUniversity of Oxford · GBSeoul National University · KRUniversity of Malaya · MYVanderbilt University · USAgency for Science, Technology and Research · SGCancer Research UK Cambridge Center · GBGenome Institute of Singapore · SGHarvard University · USInstitute of Biomedical Sciences, Academia Sinica · TWNagoya University · JPNational Cancer Centre Singapore · SGNational Center for Global Health and Medicine · JPNational University Hospital · SGNew Generation University College · ETPeking University · CNStanford University · USThe University of Osaka · JPUniversity of Manchester · GB
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MTumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8MCore-001U01CA164920 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Irene Andrulis, Sarah Violet Colonna · 2018 to 2026
$17.0MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MEpidemiological and Clinical Translational Studies Post Genome-Wide AssociationU19CA148537 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI EASTON, DOUGLAS FREDERICK, EELES, ROSALIND · 2010 to 2014
$10.4MOvarian cancer GWAS discovery, expansion and replication (N2 - Project #1)U19CA148112 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2010 to 2014
$10.2MProspective studies of cancer etiology and prevention in Shanghai and SingaporeR01CA144034 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI YUAN, JIAN-MIN · 2010 to 2014
$7.0MShanghai Womens Health StudyUM1CA182910 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2014 to 2018
$5.9MShanghai Breast Cancer StudyR01CA064277 · NCI · VANDERBILT UNIVERSITY · PI SHU, XIAO-OU · 1996 to 2012
$4.8MA genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8MCancer Risk Reduction and Diet: A Cohort Study of WomenR37CA070867 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2009 to 2013
$4.7MCancer epidemiology cohorts in Shanghai and Singapore UM1CA182876 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI YUAN, JIAN-MIN · 2014 to 2018
$4.3MCancer Research UK 16563Cancer Research UK 20861Cancer Research UK 29186Cancer Research UK C12292/A20861Medical Research Council MC_PC_13049Medical Research Council MC_PC_14135Medical Research Council MC_U137686851Medical Research Council MC_UU_00017/1Medical Research Council MC_UU_12026/2Medical Research Council MR/P012930/1NCI NIH HHS N01 CN025403NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA068485NCI NIH HHS R00 CA230205NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA144034NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA235553NCI NIH HHS R03 CA130065NCI NIH HHS R37 CA070867NCI NIH HHS U01 CA164920NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UM1 CA182876NCI NIH HHS UM1 CA182910Wellcome Trust 203477Wellcome Trust 203477/Z/16/Z
Abstract
purposeNon-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.
methodsThe 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).
resultsThe 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.
conclusionPRSs developed in this study, from association data from multiple ancestries, can enhance risk stratification for women of Asian ancestry.
Indexed as
Breast NeoplasmsBayes TheoremFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePolymorphism, Single NucleotideProspective StudiesRisk FactorsBreast cancerGeneticPolygenic risk scoreRisk prediction
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