ArticleNature genetics2026
Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.
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Article in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
–field-weighted citation impact
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed.
- Clinical implementation of polygenic risk scores-updates on ancestry-adjusted PRS and their use in practice.European journal of human genetics : EJHG · 2026Article
- Breast cancer polygenic risk score performance varies by socioeconomic status.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
- Should Sickle Cell Disease Be Considered a Cancer Predisposition Syndrome?Children (Basel, Switzerland) · 2026Review
- Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.Nature genetics · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
55 authors.
James L LiDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-1248-6592
Haoyu ZhangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-6423-0444
Xiaoyu WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Guochong JiaDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-8455-1832
Julian C McClellanDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Wenji GuoDepartment of Medicine, Section of Hematology and Oncology, University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-8739-8415
Yijia SunDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Peter N FioricaJacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA.ORCID http://orcid.org/0000-0002-1001-1518
Stefan AmbsLaboratory of Human Carcinogenesis, Center of Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-7651-9309
Mollie E BarnardSlone Epidemiology Center, Boston University, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4843-4655
Yu ChenDepartment of Population Health, Division of Epidemiology, NYU Grossman School of Medicine, New York, NY, USA.
Montserrat Garcia-ClosasDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0003-1033-2650
Jian GuDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID http://orcid.org/0000-0003-3499-0973
Jennifer J HuDepartment of Public Health Sciences, University of Miami School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0002-0021-5699
Esther M JohnDepartment of Epidemiology and Population Health and Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Katherine L NathansonDepartment of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-6740-0901
Barbara NemesureDepartment of Family, Population and Preventive Medicine, Renaissance School of Medicine, Stony Brook University, Stony Brook, NY, USA.
Tuya PalDepartment of Medicine, Division of Genetic Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Xiao-Ou ShuDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Michael F PressDepartment of Pathology, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-3400-6614
Maureen SandersonDepartment of Family and Community Medicine, Meharry Medical College, Nashville, TN, USA.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.ORCID http://orcid.org/0000-0002-6776-0018
Melissa A TroesterDepartment of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0001-9506-6624
Song YaoDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.ORCID http://orcid.org/0000-0001-9442-1313
Jirong LongDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-7433-9766
Thomas U AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-0771-7752
Abenaa M BrewsterDepartment of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Adeyinka FalusiGenetic and Bioethics Research Unit, Institute for Advanced Medical Research and Training, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Peter KraftDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-4472-8103
Anselm J M HennisDepartment of Family, Population and Preventive Medicine, Renaissance School of Medicine, Stony Brook University, Stony Brook, NY, USA.
Timothy MakumbiDepartment of Surgery, Mulago Hospital, Kampala, Uganda.
Berthe S E MapokoDepartment of Internal Medicine and Specialties, Faculty of Medicine and Biomedical Sciences, University of Yaounde, Yaounde Central Hospital, Yaounde, Cameroon.
Katie M O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.ORCID http://orcid.org/0000-0002-1931-1349
Oladosu OjengbedeCenter for Population and Reproductive Health, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Andrew F OlshanDepartment of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Sonya ReidDepartment of Medicine, Division of Hematology and Oncology, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Gary ZirpoliSlone Epidemiology Center, Boston University, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1417-5349
Qiuyin CaiDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-9384-5648
Eboneé N ButlerDepartment of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0002-4638-1190
Maosheng HuangDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
John ObafunwaDepartment of Pathology and Forensic Medicine, Lagos State University Teaching Hospital, Lagos, Nigeria.
Clarice R WeinbergBiostatistics and Computational Biology Branch, National Institutes of Environmental Health Sciences, Research Triangle Park, NC, USA.
Christine AmbrosoneDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.ORCID http://orcid.org/0000-0003-1717-9943
Jie PingDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-9907-5819
Ran TaoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-1106-2923
Bingshan LiDepartment of Molecular Physiology and Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-2129-168X
Xingyi GuoDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-5269-1294
Guimin GaoDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
David V ContiDepartment of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-2941-7833
Nilanjan ChatterjeeDepartment of Biostatistics, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-9060-008X
Julie R PalmerSlone Epidemiology Center, Boston University, Boston, MA, USA.
Olufunmilayo I OlopadeDepartment of Medicine, Center for Clinical Cancer Genetics and Global Health, The University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-9936-1599
Wei ZhengDepartment of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-1226-070X
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-0097-9971
Dezheng HuoDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA. dhuo@bsd.uchicago.edu.ORCID http://orcid.org/0000-0002-4041-1678
Funding
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BENJAMIN CARLISLE CALHOUN · 1992 to 2026
$59.3MA Follow-up Study for Causes of Cancer in Black WomenU01CA164974 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Kimberly A. Bertrand, Yvette C Cozier · 2017 to 2026
$24.0MPilot Program CoreP30ES027792 · NIEHS · UNIVERSITY OF CHICAGO · PI Mallory Rachael Ward · 2017 to 2026
$13.6MPolygenic Risk Prediction of Breast Cancer for Women of African DescentR01CA228198 · NCI · UNIVERSITY OF CHICAGO · PI Dezheng Huo · 2018 to 2026
$3.9MUChicago Interdisciplinary Cancer Health Disparities SPOREP20CA233307 · NCI · UNIVERSITY OF CHICAGO · PI LINGEN, MARK W. · 2018 to 2020
$3.4MEtiology and Genomics of Breast Cancer Progression in Women of African AncestryR01MD013452 · NIMHD · UNIVERSITY OF CHICAGO · PI HUO, DEZHENG, OLOPADE, OLUFUNMILAYO F. · 2019 to 2023
$2.8MTranscriptome-wide association studies for Alzheimer’s disease integrating RNA splicing and gene expression from multiple tissuesR01CA242929 · NCI · UNIVERSITY OF CHICAGO · PI GAO, GUIMIN, HUO, DEZHENG · 2019 to 2022
$1.7MBreast Cancer Research Foundation (BCRF) BCRF-22-071NCI NIH HHS P20 CA233307NCI NIH HHS P50 CA058223NCI NIH HHS R01 CA228198NCI NIH HHS R01 CA242929NCI NIH HHS U01 CA164974NIEHS NIH HHS P30 ES027792NIMHD NIH HHS R01 MD013452U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01-CA228198
Abstract
Polygenic risk score (PRS) models effectively predict breast cancer (BC) risk in European-ancestry women but have limited accuracy for African-ancestry women, particularly for aggressive subtypes. We developed PRS models for overall BC, estrogen receptor (ER)-positive, ER-negative and triple-negative BC (TNBC) in African-ancestry women using data from the African Ancestry Breast Cancer Genetics consortium (17,391 cases and 18,800 controls). We applied several PRS methods and integrated information across ancestries and BC subtypes. The best models for overall, ER-positive, ER-negative and TNBC showed an area under the receiving operating curve of 0.612, 0.621, 0.611 and 0.639, respectively, and maintained predictive accuracy in external validation studies with area under the receiving operating curves of 0.612, 0.640, 0.605 and 0.652. We further introduce a parsimonious 162-variant PRS for TNBC with comparable accuracy (0.626). These findings demonstrate markedly improved PRS accuracy for BC risk prediction in African-ancestry women. Using these PRS models for screening will help promote more equitable cancer prevention efforts.
Indexed as
Breast NeoplasmsMultifactorial InheritanceAfrican PeopleBlack or African AmericanBlack PeopleCase-Control StudiesFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreHumansMiddle AgedPolymorphism, Single NucleotideReceptors, EstrogenRisk FactorsSub-Saharan African PeopleTriple Negative Breast NeoplasmsReceptors, Estrogen
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.