ArticleNature communications2024
Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes.
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Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Article
- Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.Nature communications · 2026Article
- Transcriptome predictors of second breast events in ductal carcinoma in situ: a case‒control study including Black and White women.Breast cancer research : BCR · 2026Article
- Cross-ancestry proteome-wide Mendelian randomization prioritizes 12 plasma protein candidates for breast cancer risk.medRxiv : the preprint server for health sciences · 2026Article
- Identification of susceptibility loci using a novel murine model for triple-negative breast cancer.G3 (Bethesda, Md.) · 2026Article
- Transcriptome analysis reveals the potential role of neural factor EN1 for long-terms survival in estrogen receptor-independent breast cancer.Molecular therapy. Oncology · 2025Article
- Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes.Nature communications · 2024Article
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Authors and funding
43 authors.
Jie PingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-9907-5819
Guochong JiaDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-8455-1832
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-9384-5648
Xingyi GuoDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-5269-1294
Ran TaoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
Christine AmbrosoneDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Elm & Carlton Streets, Buffalo, NY, USA.ORCID http://orcid.org/0000-0003-1717-9943
Dezheng HuoDepartment of Public Health Sciences, The University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-4041-1678
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.
Yu ChenDivision of Epidemiology, Department of Population Health, NYU Grossman School of Medicine, New York, NY, USA.
Montserrat Garcia-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.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 JohnDepartments of Epidemiology & Population Health and of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Christopher I LiDivision of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Katherine NathansonDivision of Hematology/Oncology, Department of Medicine, 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.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics and Global Health, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Tuya PalDivision of Genetic Medicine, Department of Medicine, 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
Toshio YoshimatsuDepartment of Public Health Sciences, The University of Chicago, Chicago, IL, USA.
Prisca O AdejumoDepartment of Nursing, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Thomas AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 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.
Anselm J M HennisGeorge Alleyne Chronic Disease Research Centre, University of the West Indies, Bridgetown, Barbados.
Timothy MakumbiDepartment of Surgery, Mulago Hospital, Kampala, Uganda.
Paul NdomYaounde General Hospital, Yaounde, Cameroon.
Katie M O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.
Andrew F OlshanDepartment of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Mojisola M OluwasanuDepartment of Health Promotion and Education, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Sonya ReidDivision of Hematology and Oncology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Song YaoDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Elm & Carlton Streets, Buffalo, NY, USA.ORCID http://orcid.org/0000-0001-9442-1313
Ebonee 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.
Atara NtekimDepartment of Radiation Oncology, College of Medicine, University of Ibadan, Ibadan, Nigeria.ORCID http://orcid.org/0000-0003-4830-8365
Bingshan LiDepartment of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-2129-168X
Melissa A TroesterDepartment of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Julie R PalmerSlone Epidemiology Center, Boston University, Boston, MA, USA.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-0097-9971
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA. wei.zheng@vanderbilt.edu.ORCID http://orcid.org/0000-0003-1226-070X
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ben Ho Park · 1995 to 2026
$172.8MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3MTranslational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI A. Clementina Mesaros · 2006 to 2026
$35.3MA 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
$22.7MBreast 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
$11.5MPolygenic 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
$3.4MIntegrating genomic and transcriptomic data to identify breast cancer susceptibility genesR01CA235553 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LONG, JIRONG, ZHENG, WEI · 2019 to 2024
$3.3MEtiology 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
$1.7MNCI NIH HHS P30 CA068485NCI NIH HHS R01 CA202981NCI NIH HHS R01 CA228198NCI NIH HHS R01 CA235553NCI NIH HHS U01 CA164974NIEHS NIH HHS P30 ES010126NIEHS NIH HHS P30 ES013508NIH HHS S10 OD023680NIMHD NIH HHS R01 MD013452
Abstract
African-ancestry (AA) participants are underrepresented in genetics research. Here, we conducted a transcriptome-wide association study (TWAS) in AA female participants to identify putative breast cancer susceptibility genes. We built genetic models to predict levels of gene expression, exon junction, and 3' UTR alternative polyadenylation using genomic and transcriptomic data generated in normal breast tissues from 150 AA participants and then used these models to perform association analyses using genomic data from 18,034 cases and 22,104 controls. At Bonferroni-corrected P < 0.05, we identified six genes associated with breast cancer risk, including four genes not previously reported (CTD-3080P12.3, EN1, LINC01956 and NUP210L). Most of these genes showed a stronger association with risk of estrogen-receptor (ER) negative or triple-negative than ER-positive breast cancer. We also replicated the associations with 29 genes reported in previous TWAS at P < 0.05 (one-sided), providing further support for an association of these genes with breast cancer risk. Our study sheds new light on the genetic basis of breast cancer and highlights the value of conducting research in AA populations.
Indexed as
Breast NeoplasmsGenetic Predisposition to DiseaseTranscriptomeAdultAgedBlack or African AmericanBlack PeopleCase-Control StudiesFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticGenome-Wide Association StudyHumansMiddle AgedPolymorphism, Single NucleotideReceptors, EstrogenReceptors, Estrogen
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