Observational studyNature genetics2025
Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.
Abstract readObservational Study
In one paragraph
Observational study in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed.
- Hereditary breast cancer: emerging roles of non-coding RNAs.Hereditas · 2026Review
- A cross-ancestry genetic atlas of shared susceptibility between infectious diseases and cancer.Functional & integrative genomics · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Evolutionary causes and consequences of gene duplication.Nature reviews. Genetics · 2026Review
- Article
- Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.Nature communications · 2026Article
- African ancestry and risk variants associated with triple-negative breast cancer susceptibility in African American women.Genome medicine · 2026Article
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 2026Review
- Berry-derived gold nanoparticles induce integrated ROS-mediated apoptosis, immune modulation, and transcriptomic remodeling in 4T1 triple-negative cancer cells.Cell death discovery · 2026Article
- PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.Cancer cell international · 2025Article
- Identification and functional analysis of Rattus norvegicus Mammary carcinoma susceptibility 1b (Mcs1b) nominated variants.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Article
- The treatment of breast cancer in the era of precision medicine.Cancer biology & medicine · 2025Review
- Current trends in breast cancer genetics, risk factors, and screening strategies.Journal of biological methods · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
70 authors.
Guochong JiaDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-8455-1832
Zhishan ChenDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Jie PingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-9907-5819
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-9384-5648
Ran TaoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
Chao LiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Joshua A BauerDepartment of Biochemistry, Vanderbilt Institute of Chemical Biology, Vanderbilt University School of Medicine, Nashville, TN, USA.ORCID 0000-0002-8019-900X
Yuhan XieDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.ORCID 0000-0002-1738-0885
Stefan AmbsLaboratory of Human Carcinogenesis, Center of Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-7651-9309
Mollie E BarnardSlone Epidemiology Center, Boston University, Boston, MA, USA.ORCID 0000-0002-4843-4655
Yu ChenDivision of Epidemiology, Department of Population Health, NYU Grossman School of Medicine, New York, NY, USA.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, South Korea.ORCID 0000-0001-5365-8189
Yu-Tang GaoState Key Laboratory of Oncogene and Related Genes and Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Montserrat Garcia-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0003-1033-2650
Jian GuDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID 0000-0003-3499-0973
Jennifer J HuDepartment of Public Health Sciences, University of Miami School of Medicine, Miami, FL, USA.ORCID 0000-0002-0021-5699
Motoki IwasakiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, Tokyo, Japan.
Esther M JohnDepartment of Epidemiology and Population Health and Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Sun-Seog KweonDepartment of Preventive Medicine, Chonnam National University Medical School, Hwasun, South Korea.
Christopher I LiDivision of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.
Koichi MatsudaLaboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.ORCID 0000-0001-7292-2686
Keitaro MatsuoDivision of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.ORCID 0000-0003-1761-6314
Katherine L NathansonDivision of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 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.ORCID 0000-0002-9936-1599
Tuya PalDivision of Genetic Medicine, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Sue K ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.ORCID 0000-0001-5002-9707
Boyoung ParkDepartment of Preventive Medicine, Hanyang University College of Medicine, Seoul, South Korea.ORCID 0000-0003-1902-3184
Michael F PressDepartment of Pathology, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.ORCID 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 0000-0002-6776-0018
Chen-Yang ShenCollege of Public Health, China Medical University, Taichong, Taiwan.
Melissa A TroesterDepartment of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0001-9506-6624
Song YaoDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.ORCID 0000-0001-9442-1313
Ying ZhengShanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
Thomas AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID 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.
Anselm J M HennisDepartment of Family, Population and Preventive Medicine, Renaissance School of Medicine, Stony Brook University, Stony Brook, NY, USA.
Hidemi ItoDivision of Cancer Information and Control, Aichi Cancer Center Research Institute, Nagoya, Japan.ORCID 0000-0002-8023-4581
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Eun-Sook LeeNational Cancer Center Graduate School of Cancer Science and Policy, Goyang, South Korea.
Timothy MakumbiDepartment of Surgery, Mulago Hospital, Kampala, Uganda.
Paul NdomYaounde General Hospital, Yaounde, Cameroon.
Dong-Young NohCollege of Medicine, Cancer Research Institute, Seoul National University, Seoul, South Korea.
Katie M O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.ORCID 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.
Min-Ho ParkDepartment of Surgery, Chonnam National University Medical School, Gwangju, South Korea.ORCID 0000-0003-1504-3815
Sonya ReidDivision of Hematology and Oncology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Taiki YamajiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, Tokyo, Japan.
Gary ZirpoliSlone Epidemiology Center, Boston University, Boston, MA, USA.ORCID 0000-0003-1417-5349
Ebonee N ButlerDepartment of Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Maosheng HuangDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Siew-Kee LowRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID 0000-0003-2386-0698
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.
Haoyu ZhangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0001-6423-0444
Hongyu ZhaoDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.ORCID 0000-0003-1195-9607
Michelle L CoteFairbanks School of Public Health, Indiana University, Indianapolis, IN, USA.
Christine B AmbrosoneDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.ORCID 0000-0003-1717-9943
Dezheng HuoDepartment of Public Health Sciences, The University of Chicago, Chicago, IL, USA.ORCID 0000-0002-4041-1678
Bingshan LiDepartment of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.ORCID 0000-0003-2129-168X
Daehee KangDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, South Korea.
Julie R PalmerSlone Epidemiology Center, Boston University, Boston, MA, USA.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA.ORCID 0000-0002-0097-9971
Xingyi GuoDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-5269-1294
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-7433-9766
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 0000-0003-1226-070X
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ben Ho Park · 1995 to 2026
$172.8MBreast Cancer genetic study in African-ancestry populationsR01CA202981 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Wei Zheng · 2016 to 2026
$14.1MThe Two Sister StudyZIAES102245 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WEINBERG, CLARICE · 2009 to 2025
$8.6MPolygenic Risk Prediction of Breast Cancer for Women of African DescentR01CA228198 · NCI · UNIVERSITY OF CHICAGO · PI Dezheng Huo · 2018 to 2026
$3.9MIdentification of proteins for breast cancer risk: an integrative epidemiologic and genomic studyR01CA293996 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jirong Long, Xiao-Ou Shu · 2024 to 2026
$3.6MIntegrating genomic and transcriptomic data to identify breast cancer susceptibility genesR01CA235553 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LONG, JIRONG, ZHENG, WEI · 2019 to 2024
$3.3MConsortium Study to Identify Breast Cancer Susceptibility LociR01CA148667 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LONG, JIRONG, ZHENG, WEI · 2011 to 2015
$3.3MGenetic Factors for Breast Cancer- A genome Wide StudyR01CA124558 · NCI · VANDERBILT UNIVERSITY · PI ZHENG, WEI · 2008 to 2012
$3.1MEtiology and Genomics of Breast Cancer Progression in Women of African AncestryR01MD013452 · NIMHD · UNIVERSITY OF CHICAGO · PI HUO, DEZHENG, OLOPADE, OLUFUNMILAYO F. · 2019 to 2023
$2.8MGenetics of Breast Cancer in BlacksR01CA089085 · NCI · UNIVERSITY OF CHICAGO · PI OLOPADE, OLUFUNMILAYO F. · 2002 to 2006
$2.8MCancer Pharmacologist and HTS ScientistR50CA211206 · NCI · VANDERBILT UNIVERSITY · PI Joshua A. Bauer · 2016 to 2026
$1.8MTranscriptome-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
$1.7MIntramural NIH HHS Z01 ES044005Intramural NIH HHS ZIA ES102245NCI NIH HHS P30 CA068485NCI NIH HHS R01 CA089085NCI NIH HHS R01 CA124558NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA202981NCI NIH HHS R01 CA228198NCI NIH HHS R01 CA235553NCI NIH HHS R01 CA242929NCI NIH HHS R01 CA293996NCI NIH HHS R50 CA211206NIH HHS S10 OD028719NIMHD NIH HHS R01 MD013452U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01CA148667U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01CA202981U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01CA235553
Abstract
Genome-wide association studies have identified approximately 200 genetic risk loci for breast cancer, but the causal variants and target genes are mostly unknown. We sought to fine-map all known breast cancer risk loci using genome-wide association study data from 172,737 female breast cancer cases and 242,009 controls of African, Asian and European ancestry. We identified 332 independent association signals for breast cancer risk, including 131 signals not reported previously, and for 50 of them, we narrowed the credible causal variants down to a single variant. Analyses integrating functional genomics data identified 195 putative susceptibility genes, enriched in PI3K/AKT, TNF/NF-κB, p53 and Wnt/β-catenin pathways. Single-cell RNA sequencing or in vitro experiment data provided additional functional evidence for 105 genes. Our study uncovered large numbers of association signals and candidate susceptibility genes for breast cancer, uncovered breast cancer genetics and biology, and supported the value of including multi-ancestry data in fine-mapping analyses.
Indexed as
Breast NeoplasmsGenetic Predisposition to DiseaseAsian PeopleBlack PeopleCase-Control StudiesChromosome MappingFemaleGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRisk FactorsWhite People
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