ArticleHuman molecular genetics2022
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.
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Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.Genome medicine · 2025Trial
- Polygenic Risk Scores for Breast Cancer Among African American Women With High Risk.JAMA network open · 2026Article
- Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.Nature genetics · 2026Article
- Genetic and Nongenetic Risk Factors for Breast Cancer Risk Estimation.JAMA network open · 2025Observational
- Review
- 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
- Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.Nature genetics · 2024Article
- Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors.Nature medicine · 2024Article
- Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.Journal of medical genetics · 2024Article
- Addition of polygenic risk score to a risk calculator for prediction of breast cancer in US Black women.Breast cancer research : BCR · 2024Article
- Review
- An apparent quandary: adoption of polygenics and gene panels for personalised breast cancer risk stratification.BJC reports · 2023Review
- A scoping review of smoking cessation pharmacogenetic studies to advance future research across racial, ethnic, and ancestral populations.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
57 authors at 20 institutions in 6 countries.
Guimin GaoDepartment of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.
Fangyuan ZhaoDepartment of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.
Thomas U AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.
Kathryn L LunettaDepartment of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA.
Melissa A TroesterDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Zhaohui DuPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Temidayo O OgundiranDepartment of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Oladosu OjengbedeCentre for Population & Reproductive Health, College of Medicine, University of Ibadan, Ibadan, Nigeria.
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Katherine L NathansonDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Susan M DomchekDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Barbara NemesureDepartment of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
Anselm HennisDepartment of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
Stefan AmbsLaboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, MD 20892, USA.
Julian McClellanDepartment of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.
Mark NieDepartment of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.
Kimberly BertrandSlone Epidemiology Center, Boston University, Boston, MA 02215, USA.
Gary ZirpoliSlone Epidemiology Center, Boston University, Boston, MA 02215, USA.
Song YaoDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USA.
Andrew F OlshanDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Jeannette T BensenDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Elisa V BanderaCancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08903, USA.
Sarah NyanteDepartment of Radiology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
David V ContiDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Michael F PressDepartment of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Sue A InglesDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Esther M JohnDepartments of Epidemiology & Population Health and of Medicine (Oncology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA 94304, USA.
Leslie BernsteinBiomarkers of Early Detection and Prevention, Department of Population Sciences, Beckman Research Institute, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA.
Jennifer J HuDepartment of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Sandra L Deming-HalversonDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.
Regina G ZieglerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.
Jorge L Rodriguez-GilGenomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, MD 20894, USA.
Lara E Sucheston-CampbellDepartment of Veterinary Biosciences, College of Veterinary Medicine, The Ohio State University, Columbus, OH 43210, USA.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.
Cari M KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Katie M O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.
Manjeet K BollaDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Joe DennisDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Alison M DunningDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.ORCID 0000-0001-6651-7166
Douglas F EastonDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Paul D P PharoahDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Qin WangDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Jonine FigueroaUsher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh EH16 5TJ, UK.
Richard BiritwumUniversity of Ghana, Accra, Ghana.
Ernest AdjeiKomfo Anokye Teaching Hospital, Kumasi, Ghana.
Seth WiafeSchool of Public Health, Loma Linda University, Loma Linda, CA 92350, USA.
GBHS Study Team
Christine B AmbrosoneDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics & Global Health, The University of Chicago, Chicago, IL 60637, USA.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.
Julie R PalmerSlone Epidemiology Center, Boston University, Boston, MA 02215, USA.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Dezheng HuoDepartment of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.ORCID 0000-0002-4041-1678
National Institutes of Health · USUniversity of Cambridge · GBBoston University · USChicago Department of Public Health · USUniversity of North Carolina at Chapel Hill · USUniversity of Southern California · USRoswell Park Comprehensive Cancer Center · USVanderbilt University · USUniversity of Ibadan · NGUniversity of Pennsylvania · USCity of Hope · USCyprus Institute of Neurology and Genetics · CYEdinburgh Cancer Research · GBFred Hutch Cancer Center · USKomfo Anokye Teaching Hospital · GHLoma Linda University · USNational Cancer Institute · USNational Human Genome Research Institute · USRutgers, The State University of New Jersey · USStanford University · US
Funding
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3MUnderstanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4MUNC-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
$24.0MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MMultiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2MEnvironmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7MNorthern California Cooperative Family Registry for Breast CancerU01CA069417 · NCI · NORTHERN CALIFORNIA CANCER CENTER · PI JOHN, ESTHER M. · 1995 to 2010
$22.4MFOLLOW-UP STUDY FOR CAUSES OF ILLNESS IN BLACK WOMENR01CA058420 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI ROSENBERG, LYNN · 1999 to 2013
$20.7MReproduction, Lactation and Hormonal Factors in Breast Cancer SubtypesP01CA151135 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI AMBROSONE, CHRISTINE B., OLSHAN, ANDREW · 2011 to 2017
$18.1MBreast Cancer genetic study in African-ancestry populationsR01CA202981 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Wei Zheng · 2016 to 2026
$14.1MA Follow-up Study for Causes of Cancer in Black WomenUM1CA164974 · NCI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI ROSENBERG, LYNN · 2012 to 2017
$13.7MCancer Research UK 10118Intramural NIH HHS Z01 ES044005NCI NIH HHS K05 CA136967NCI NIH HHS P01 CA151135NCI NIH HHS P20 CA233307NCI NIH HHS P50 CA058223NCI NIH HHS R01 CA058420NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA089085NCI NIH HHS R01 CA098663NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA100598NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA202981NCI NIH HHS R01 CA228198NCI NIH HHS R01 CA228357NCI NIH HHS R01 CA242929NCI NIH HHS R03 CA227357NCI NIH HHS R37 CA054281NCI NIH HHS U01 CA069417NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA164974NCI NIH HHS U01 CA261339NCI NIH HHS UM1 CA164974NIEHS NIH HHS P30 ES010126NIGMS NIH HHS T32 GM140935
Abstract
Polygenic risk scores (PRSs) are useful for predicting breast cancer risk, but the prediction accuracy of existing PRSs in women of African ancestry (AA) remains relatively low. We aim to develop optimal PRSs for the prediction of overall and estrogen receptor (ER) subtype-specific breast cancer risk in AA women. The AA dataset comprised 9235 cases and 10 184 controls from four genome-wide association study (GWAS) consortia and a GWAS study in Ghana. We randomly divided samples into training and validation sets. We built PRSs using individual-level AA data by a forward stepwise logistic regression and then developed joint PRSs that combined (1) the PRSs built in the AA training dataset and (2) a 313-variant PRS previously developed in women of European ancestry. PRSs were evaluated in the AA validation set. For overall breast cancer, the odds ratio per standard deviation of the joint PRS in the validation set was 1.34 [95% confidence interval (CI): 1.27-1.42] with the area under receiver operating characteristic curve (AUC) of 0.581. Compared with women with average risk (40th-60th PRS percentile), women in the top decile of the PRS had a 1.98-fold increased risk (95% CI: 1.63-2.39). For PRSs of ER-positive and ER-negative breast cancer, the AUCs were 0.608 and 0.576, respectively. Compared with existing methods, the proposed joint PRSs can improve prediction of breast cancer risk in AA women.
Indexed as
Breast NeoplasmsGenome-Wide Association StudyFemaleGenetic Predisposition to DiseaseHumansMultifactorial InheritanceReceptors, EstrogenRisk FactorsReceptors, Estrogen
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