Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.

Breast Neoplasms / genetics Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Multifactorial Inheritance / genetics Receptors, Estrogen / genetics Risk Factors

Journal

Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958

Informations de publication

Date de publication:
10 09 2022
Historique:
received: 09 11 2021
revised: 29 03 2022
accepted: 26 04 2022
pubmed: 14 5 2022
medline: 20 9 2022
entrez: 13 5 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1093/hmg/ddac102 PMID: 35554533 PMC: PMC9476624
pubmed: 35554533
pii: 6584730
doi: 10.1093/hmg/ddac102
pmc: PMC9476624
doi:

Substances chimiques

Receptors, Estrogen 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3133-3143

Subventions

Organisme : NCI NIH HHS
ID : U01 CA069417
Pays : United States
Organisme : NIEHS NIH HHS
ID : P30 ES010126
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA089085
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA142996
Pays : United States
Organisme : NCI NIH HHS
ID : P01 CA151135
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA261339
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA164974
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 ES044005
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM140935
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA100598
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA164974
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA098663
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA058223
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA100374
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA228198
Pays : United States
Organisme : NCI NIH HHS
ID : P20 CA233307
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA058420
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA242929
Pays : United States
Organisme : NCI NIH HHS
ID : K05 CA136967
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA063464
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA164973
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA228357
Pays : United States
Organisme : NCI NIH HHS
ID : R37 CA054281
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA202981
Pays : United States
Organisme : NCI NIH HHS
ID : R03 CA227357
Pays : United States

Informations de copyright

© The Author(s) 2022. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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Auteurs

Guimin Gao (G)

Department of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.

Fangyuan Zhao (F)

Department of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.

Thomas U Ahearn (TU)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.

Kathryn L Lunetta (KL)

Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA.

Melissa A Troester (MA)

Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Zhaohui Du (Z)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

Temidayo O Ogundiran (TO)

Department of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria.

Oladosu Ojengbede (O)

Centre for Population & Reproductive Health, College of Medicine, University of Ibadan, Ibadan, Nigeria.

William Blot (W)

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

Katherine L Nathanson (KL)

Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Susan M Domchek (SM)

Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Barbara Nemesure (B)

Department of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY 11794, USA.

Anselm Hennis (A)

Department of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
University of the West Indies, Bridgetown, Bardados.

Stefan Ambs (S)

Laboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, MD 20892, USA.

Julian McClellan (J)

Department of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.

Mark Nie (M)

Department of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.

Kimberly Bertrand (K)

Slone Epidemiology Center, Boston University, Boston, MA 02215, USA.

Gary Zirpoli (G)

Slone Epidemiology Center, Boston University, Boston, MA 02215, USA.

Song Yao (S)

Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USA.

Andrew F Olshan (AF)

Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Jeannette T Bensen (JT)

Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Elisa V Bandera (EV)

Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08903, USA.

Sarah Nyante (S)

Department of Radiology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.

David V Conti (DV)

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

Michael F Press (MF)

Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

Sue A Ingles (SA)

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

Esther M John (EM)

Departments of Epidemiology & Population Health and of Medicine (Oncology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA 94304, USA.

Leslie Bernstein (L)

Biomarkers of Early Detection and Prevention, Department of Population Sciences, Beckman Research Institute, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA.

Jennifer J Hu (JJ)

Department of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

Sandra L Deming-Halverson (SL)

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

Stephen J Chanock (SJ)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.

Regina G Ziegler (RG)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.

Jorge L Rodriguez-Gil (JL)

Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, MD 20894, USA.

Lara E Sucheston-Campbell (LE)

Department of Veterinary Biosciences, College of Veterinary Medicine, The Ohio State University, Columbus, OH 43210, USA.

Dale P Sandler (DP)

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

Jack A Taylor (JA)

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

Cari M Kitahara (CM)

Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Katie M O'Brien (KM)

Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.

Manjeet K Bolla (MK)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.

Joe Dennis (J)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.

Alison M Dunning (AM)

Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
ORCID: 0000-0001-6651-7166

Douglas F Easton (DF)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.

Kyriaki Michailidou (K)

Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.

Paul D P Pharoah (PDP)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.

Qin Wang (Q)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.

Jonine Figueroa (J)

Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh EH16 5TJ, UK.
Cancer Research UK Edinburgh Centre, Edinburgh EH4 2XR, UK.

Richard Biritwum (R)

University of Ghana, Accra, Ghana.

Ernest Adjei (E)

Komfo Anokye Teaching Hospital, Kumasi, Ghana.

Seth Wiafe (S)

School of Public Health, Loma Linda University, Loma Linda, CA 92350, USA.

Christine B Ambrosone (CB)

Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USA.

Wei Zheng (W)

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

Olufunmilayo I Olopade (OI)

Center for Clinical Cancer Genetics & Global Health, The University of Chicago, Chicago, IL 60637, USA.

Montserrat García-Closas (M)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.

Julie R Palmer (JR)

Slone Epidemiology Center, Boston University, Boston, MA 02215, USA.

Christopher A Haiman (CA)

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

Dezheng Huo (D)

Department of Public Health Sciences, The University of Chicago, Chicago, IL 60637, USA.
Center for Clinical Cancer Genetics & Global Health, The University of Chicago, Chicago, IL 60637, USA.
ORCID: 0000-0002-4041-1678

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Classifications MeSH

questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies du sein › Tumeurs du sein › Polygenic risk scores for prediction of breast...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Polygenic risk scores for prediction of breast...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Polygenic risk scores for prediction of breast...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Polygenic risk scores for prediction of breast...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité multifactorielle › Polygenic risk scores for prediction of breast...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Récepteurs aux stéroïdes › Récepteurs des oestrogènes › Polygenic risk scores for prediction of breast...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Polygenic risk scores for prediction of breast...