ArticleJournal of the National Cancer Institute2021
Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry.
Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Journal of the National Cancer Institute, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06922708 (Implementing Polygenic Risk Scores for Breast Cancer Prevention), which is not on this map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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50citing papers in PubMed, 1 pooled it
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The trial behind it
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.
Implementing Polygenic Risk Scores for Breast Cancer Prevention: Protocol for a Feasibility Study in a Real-world Clinical Setting
Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.Human molecular genetics · 2024Pooled it
- Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.Genome medicine · 2025Trial
- Contextualizing the Utility of Polygenic Risk Scores using Absolute Risk Models in Diverse Ancestry Populations.medRxiv : the preprint server for health sciences · 2026Article
- Topology-Based Biomarkers Accurately Predict Breast Cancer Outcome and Survival.Cancer research · 2026Article
- Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.Nature genetics · 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
- S4-multi: Enhancing polygenic score prediction in ancestrally diverse populations.HGG advances · 2026Article
- Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population.British journal of cancer · 2025Article
- Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.Breast cancer research : BCR · 2025Article
- The African-Specific Variant in the Duffy Antigen Receptor for Chemokines Gene, CD8+ T-Cell Density, and Aggressive Breast Cancer Subtypes in Black Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Improved breast cancer risk prediction using chromosomal-scale length variation.Human genomics · 2025Article
- Evaluating the performance of the Breast and Ovarian Analysis of Disease Incidence Algorithm model in predicting 10-year breast cancer risks in UK Biobank.Journal of the National Cancer Institute · 2025Article
- A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians Using Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Genetic and Nongenetic Risk Factors for Breast Cancer Risk Estimation.JAMA network open · 2025Observational
- Evaluation of Multiple Breast Cancer Polygenic Risk Score Panels in Women of Latin American Heritage.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Alcohol Consumption Does not Modify the Polygenic Risk Score-Based Genetic Risk of Breast Cancer in Postmenopausal Women: Atherosclerosis Risk in Communities Study.Cancer prevention research (Philadelphia, Pa.) · 2025Article
- Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.Breast cancer research : BCR · 2024Article
- Breast cancer risk assessment based on susceptibility genes and polygenic risk score in Vietnamese women.BJC reports · 2024Article
- Article
- Assessing the Value of Incorporating a Polygenic Risk Score with Nongenetic Factors for Predicting Breast Cancer Diagnosis in the UK Biobank.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2024Article
Corrections and comments
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Authors and funding
57 authors at 20 institutions in 6 countries.
Zhaohui DuCenter for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
Guimin GaoDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Babatunde AdedokunDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Thomas AhearnDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-0771-7752
Kathryn L LunettaDepartment of Biostatistics, Boston University, Boston, MA, USA.ORCID 0000-0002-9268-810X
Gary ZirpoliSlone Epidemiology Center, Boston University, Boston, MA, USA.ORCID 0000-0003-1417-5349
Melissa A TroesterDepartment of Epidemiology, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Edward A Ruiz-NarváezSlone Epidemiology Center, Boston University, Boston, MA, USA.
Stephen A HaddadSlone Epidemiology Center, Boston University, Boston, MA, USA.
Parichoy PalChoudhuryDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5100-623X
Esther M JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Leslie BernsteinDivision of Biomarkers of Early Detection and Prevention Department of Population Sciences, Beckman Research Institute of the City of Hope, City of Hope Comprehensive Cancer Center, Los Angeles, CA, USA.ORCID 0000-0002-7692-6518
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Jennifer J HuDepartment of Public Health Sciences, Sylvester Comprehensive Cancer Center University of Miami Miller School of Medicine, Miami, FL, USA.ORCID 0000-0002-0021-5699
Regina G ZieglerDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5100-9852
Sarah NyanteDepartment of Epidemiology, Gillings School of Global Public Health and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC, USA.ORCID 0000-0002-1770-5993
Elisa V BanderaDepartment of Population Science, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.
Sue A InglesCenter for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA, USA.ORCID 0000-0001-9181-8745
Nicholas MancusoCenter for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
Michael F PressDepartment of Pathology, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.ORCID 0000-0003-3400-6614
Sandra L DemingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Jorge L Rodriguez-GilGenomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-1125-1281
Song YaoDepartment of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY, USA.ORCID 0000-0001-9442-1313
Temidayo O OgundiranDepartment of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria.ORCID 0000-0001-6405-2131
Oladosu OjengbeCenter for Population and Reproductive Health, College of Medicine, University of Ibadan, University College Hospital, Ibadan, Nigeria.
Manjeet K BollaDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Joe DennisDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.ORCID 0000-0003-4591-1214
Alison M DunningDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.ORCID 0000-0001-6651-7166
Douglas F EastonDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.ORCID 0000-0003-2444-3247
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.ORCID 0000-0001-7065-1237
Paul D P PharoahDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.ORCID 0000-0001-8494-732X
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.ORCID 0000-0002-6776-0018
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.ORCID 0000-0001-5303-6398
Qin WangDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.ORCID 0000-0002-9139-0627
Clarice R WeinbergBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.
Cari M KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0001-6416-4432
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-6740-0901
Anselm HennisChronic Disease Research Centre and Faculty of Medical Sciences, University of the West Indies, Bridgetown, Barbados.
Barbara NemesureDepartment of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY, USA.
Stefan AmbsLaboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0001-7651-9309
Lara E Sucheston-CampbellCollege of Pharmacy, The Ohio State University, Columbus, OH, USA.
Jeannette T BensenDepartment of Epidemiology, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Andrew F OlshanDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA.
Christine B AmbrosoneDepartment of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY, USA.ORCID 0000-0003-1717-9943
Olufunmilayo I OlopadeDepartment of Medicine, Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, IL, USA.
Joel YarneyKorle Bu Teaching Hospital, Accra, Ghana.
Baffour AwuahKomfo Anoyke Teaching Hospital, Kumasi, Ghana.
Beatrice Wiafe-AddaiPeace and Love Hospital, Kumasi, Ghana.
David V Conti
GBHS Study Team
Julie R PalmerSlone Epidemiology Center, Boston University, Boston, MA, USA.ORCID 0000-0002-6534-335X
Montserrat Garcia-ClosasDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-1033-2650
Dezheng HuoDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.ORCID 0000-0002-4041-1678
Christopher A HaimanCenter for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
National Institutes of Health · USBoston University · USUniversity of Cambridge · GBUniversity of Southern California · USUniversity of North Carolina at Chapel Hill · USVanderbilt University · USChicago Department of Public Health · USNational Cancer Institute · USRoswell Park Comprehensive Cancer Center · USUniversity of Ibadan · NGCity of Hope · USCyprus Institute of Neurology and Genetics · CYKomfo Anokye Teaching Hospital · GHKorle Bu Teaching Hospital · GHRutgers, The State University of New Jersey · USStanford University · USStony Brook University · USThe Ohio State University · USUniversity of Chicago · USUniversity of Miami · US
Funding
Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5MTissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3MA 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
$24.0MEnvironmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7MFOLLOW-UP STUDY FOR CAUSES OF ILLNESS IN BLACK WOMENR01CA058420 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI ROSENBERG, LYNN · 1999 to 2013
$20.7MBreast Cancer genetic study in African-ancestry populationsR01CA202981 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Wei Zheng · 2016 to 2026
$14.1MNovel Markers for Disease Outcome in Breast CancerZIABC010887 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI AMBS, STEFAN · 2009 to 2025
$11.5MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MINTEGRATED TRAINING FOR PHYSICIAN-SCIENTISTST32GM008692 · NIGMS · UNIVERSITY OF WISCONSIN-MADISON · PI BURKARD, MARK E · 1998 to 2020
$10.3MResearch Services CoreP2CHD050924 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN B GUZZO · 2015 to 2026
$9.6MThe Two Sister StudyZIAES102245 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WEINBERG, CLARICE · 2009 to 2025
$8.6MCancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Intramural NIH HHS Z01 ES044005NCI NIH HHS P50 CA058223NCI NIH HHS R01 CA058420NCI NIH HHS R01 CA098663NCI NIH HHS R01 CA202981NCI NIH HHS R01 CA228198NCI NIH HHS R01 CA228357NCI NIH HHS U01 CA164974NCI NIH HHS U19 CA148065NICHD NIH HHS P2C HD050924NIEHS NIH HHS P30 ES010126NIGMS NIH HHS T32 GM008692
Abstract
backgroundPolygenic risk scores (PRSs) have been demonstrated to identify women of European, Asian, and Latino ancestry at elevated risk of developing breast cancer (BC). We evaluated the performance of existing PRSs trained in European ancestry populations among women of African ancestry.
methodsWe assembled genotype data for women of African ancestry, including 9241 case subjects and 10 193 control subjects. We evaluated associations of 179- and 313-variant PRSs with overall and subtype-specific BC risk. PRS discriminatory accuracy was assessed using area under the receiver operating characteristic curve. We also evaluated a recalibrated PRS, replacing the index variant with variants in each region that better captured risk in women of African ancestry and estimated lifetime absolute risk of BC in African Americans by PRS category.
resultsFor overall BC, the odds ratio per SD of the 313-variant PRS (PRS313) was 1.27 (95% confidence interval [CI] = 1.23 to 1.31), with an area under the receiver operating characteristic curve of 0.571 (95% CI = 0.562 to 0.579). Compared with women with average risk (40th-60th PRS percentile), women in the top decile of PRS313 had a 1.54-fold increased risk (95% CI = 1.38-fold to 1.72-fold). By age 85 years, the absolute risk of overall BC was 19.6% for African American women in the top 1% of PRS313 and 6.7% for those in the lowest 1%. The recalibrated PRS did not improve BC risk prediction.
conclusionThe PRSs stratify BC risk in women of African ancestry, with attenuated performance compared with that reported in European, Asian, and Latina populations. Future work is needed to improve BC risk stratification for women of African ancestry.
Indexed as
Breast NeoplasmsAged, 80 and overAsian PeopleBlack or African AmericanBlack PeopleFemaleGenetic Predisposition to DiseaseHumansRisk Factors
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NCT06922708ClinicalTrials.gov
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