ArticleAmerican journal of human genetics2022
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics.
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Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 3 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Pooled it
- Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for breast cancer by estrogen-receptor status.Breast cancer research : BCR · 2024Pooled it
- A joint transcriptome-wide association study across multiple tissues identifies candidate breast cancer susceptibility genes.American journal of human genetics · 2023Pooled it
- Genetically Predicted Blood DNA Methylation Reveals Putative Regulatory Signals Associated with ALS Risk.medRxiv : the preprint server for health sciences · 2026Article
- WDCN: a comprehensive neural network based approach for estimating breast cancer risk.Briefings in bioinformatics · 2026Article
- Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.Nature communications · 2026Article
- Cross-ancestry proteome-wide Mendelian randomization prioritizes 12 plasma protein candidates for breast cancer risk.medRxiv : the preprint server for health sciences · 2026Article
- Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention.American journal of human genetics · 2026Article
- Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer.NPJ breast cancer · 2025Article
- Cell-type aware transcriptome-wide association study of mammographic density phenotypes.medRxiv : the preprint server for health sciences · 2025Article
- Integrating multi-ancestry genomic and proteomic data to identify blood risk biomarkers and target proteins for breast cancer genetic risk loci.International journal of cancer · 2025Article
- A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Loci and Genes for Lung Cancer Risk.Cancer medicine · 2025Article
- Genome-wide association study identifies common variants associated with breast cancer in South African Black women.Nature communications · 2025Article
- Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.Nature genetics · 2025Observational
- Review
- A proteome-wide association study identifies putative causal proteins for breast cancer risk.British journal of cancer · 2024Article
- Integrating muti-omics data to identify tissue-specific DNA methylation biomarkers for cancer risk.Nature communications · 2024Article
- Multi-tissue transcriptome-wide association studies identified 235 genes for intrinsic subtypes of breast cancer.Journal of the National Cancer Institute · 2024Article
- A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer.American journal of human genetics · 2024Article
- 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
56 authors.
Guochong JiaDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA.
Jie PingDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA.
Xiang ShuDepartment of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Yaohua YangDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA.
Sun-Seog KweonDepartment of Preventive Medicine, Chonnam National University Medical School, Hwasun, Korea; Jeonnam Regional Cancer Center, Chonnam National University Hwasun Hospital, Hwasun, Korea.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Sue K ParkDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Xingyi GuoDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA.
Bingshan LiDepartment of Molecular Physiology & Biophysics, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
Ran TaoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Kristan J AronsonDepartment of Public Health Sciences and Queen's Cancer Research Institute, Queen's University, Kingston, ON, Canada.
Tsun L ChanHong Kong Hereditary Breast Cancer Family Registry, Hong Kong SAR, China; Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong SAR, China.
Yu-Tang GaoState Key Laboratory of Oncogene and Related Genes & Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Mikael HartmanDepartment of Surgery, National University Hospital, Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Weang Kee HoDepartment of Applied Mathematics, Faculty of Engineering, University of Nottingham Malaysia Campus, Semenyih, Selangor, Malaysia.
Hidemi ItoDivision of Cancer Information and Control, Aichi Cancer Center Research Institute, Nagoya, Japan; Department of Descriptive Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Motoki IwasakiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, Tokyo, Japan.
Hiroji IwataDepartment of Breast Oncology, Aichi Cancer Center, Nagoya, Aichi, Japan.
Esther M JohnDepartments of Epidemiology, Cancer Prevention Institute of California, Fremont, CA, USA; Departments of Health Research and Policy, School of Medicine, Stanford University, Stanford, CA, USA; Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
Yoshio KasugaDepartment of Surgery, Nagano Matsushiro General Hospital, Nagano, Japan.
Mi-Kyung KimDivision of Cancer Epidemiology and Management, National Cancer Center, Goyang, Korea.
Allison W KurianDepartments of Health Research and Policy, School of Medicine, Stanford University, Stanford, CA, USA.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Hong Kong SAR, China; Department of Surgery, University of Hong Kong, Hong Kong SAR, China; Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong SAR, China.
Jingmei LiDepartment of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; Human Genetics, Genome Institute of Singapore, Singapore, Singapore; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK; Institute of Population Health, University of Manchester, Manchester, UK.
Siew-Kee LowRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Shivaani MariapunCancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Koichi MatsudaLaboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Keitaro MatsuoDivision of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan; Division of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK; Institute of Population Health, University of Manchester, Manchester, UK.
Dong-Young NohCancer Research Institute, Seoul National University College of Medicine, Seoul, Korea; Department of Surgery, Seoul National University Hospital, Seoul, South Korea.
Boyoung ParkDepartment of Medicine, Hanyang University College of Medicine, Seoul, Korea.
Min-Ho ParkDepartment of Surgery, Chonnam National University Medical School, Gwangju, Korea.
Chen-Yang ShenCollege of Public Health, China Medical University, Taichong, Taiwan; Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Min-Ho ShinDepartment of Preventive Medicine, Chonnam National University Medical School, Hwasun, Korea.
John J SpinelliDepartment of Cancer Control Research, British Columbia Cancer Agency, Vancouver, BC, Canada; School of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.
Atsushi TakahashiRIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Department of Genomic Medicine, Research Institute, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
Chiuchen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Shoichiro TsuganeNational Institute of Health and Nutrition, National Institutes of Biomedical Innovation, Health and Nutrition, Tokyo, Japan.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Taiki YamajiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, Tokyo, Japan.
Ying ZhengShanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Soo-Hwang TeoCancer Research Malaysia, Subang Jaya, Selangor, Malaysia; Department of Surgery, Faculty of Medicine, University Malaya, Kuala Lumpar, Malaysia.
Daehee KangDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea; Institute of Environmental Medicine, Seoul National University Medical Research Center, Seoul, Korea.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval, Research Center, Québec City, QC, Canada.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 2525 West End Avenue, Suite 800, Nashville, TN, USA. Electronic address: wei.zheng@vanderbilt.edu.
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MTumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI STACIE B DUSETZINA · 1995 to 2026
$172.8MBreast Cancer genetic study in African-ancestry populationsR01CA202981 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Wei Zheng · 2016 to 2026
$14.1MShanghai Womens Health StudyUM1CA182910 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2014 to 2018
$5.9MShanghai Breast Cancer StudyR01CA064277 · NCI · VANDERBILT UNIVERSITY · PI SHU, XIAO-OU · 1996 to 2012
$4.8MCancer Risk Reduction and Diet: A Cohort Study of WomenR37CA070867 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2009 to 2013
$4.7MCANCER RISK REDUCTION AND DIET--A COHORT STUDY OF WOMENR01CA070867 · NCI · VANDERBILT UNIVERSITY · PI ZHENG, WEI · 1996 to 2007
$4.6MGenome Sequencing to identify novel genetic factors for breast cancer riskR01CA158473 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHENG, WEI · 2012 to 2016
$4.3MIntegrating 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
$3.1MBreast Cancer Survival: Lifestyle and Genetic DeterminantsR01CA118229 · NCI · VANDERBILT UNIVERSITY · PI SHU, XIAO-OU · 2007 to 2010
$2.9MIntramural NIH HHS Z01 BC011118NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA068485NCI NIH HHS R00 CA230205NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA070867NCI NIH HHS R01 CA092585NCI NIH HHS R01 CA118229NCI NIH HHS R01 CA122756NCI NIH HHS R01 CA124558NCI NIH HHS R01 CA137013NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA158473NCI NIH HHS R01 CA202981NCI NIH HHS R01 CA235553NCI NIH HHS R37 CA070867NCI NIH HHS UM1 CA182910Wellcome Trust 203477/Z/16/Z
Abstract
By combining data from 160,500 individuals with breast cancer and 226,196 controls of Asian and European ancestry, we conducted genome- and transcriptome-wide association studies of breast cancer. We identified 222 genetic risk loci and 137 genes that were associated with breast cancer risk at a p < 5.0 × 10
Indexed as
Breast NeoplasmsGenome-Wide Association StudyCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideTranscriptomebreast cancermulti-ancestry meta-analysistranscriptome-wide association study
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