ArticleNature genetics2014
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers, 10 of them syntheses that pooled it.
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101citing papers in PubMed, 10 pooled it
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Who cites it
101 citing papers in PubMed, 10 syntheses or guidelines pooled it, 160 citations in OpenAlex.
- Meta-analysis of integrated ChIP-seq and transcriptome data revealed genomic regions affected by estrogen receptor alpha in breast cancer.BMC medical genomics · 2023Pooled it
- Genetic alterations inFrontiers in oncology · 2023Pooled it
- Incorporating European GWAS findings improve polygenic risk prediction accuracy of breast cancer among East Asians.Genetic epidemiology · 2021Pooled it
- Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer.Nature communications · 2020Pooled it
- Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.Nature communications · 2020Pooled it
- Genetic variants of calcium and vitamin D metabolism in kidney stone disease.Nature communications · 2019Pooled it
- Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.PLoS genetics · 2017Pooled it
- Pooled it
- Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.International journal of cancer · 2016Pooled it
- Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.Nature genetics · 2015Pooled it
- Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.Human molecular genetics · 2016Trial
- 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
- A reanalysis of a genome-wide association study on breast cancer in Asian populations using the SG10K_Health reference panel for imputation: a multi-Centre case-control analysis.Human molecular genetics · 2026Article
- Genetic risk and plasma biomarkers of dementia with Lewy bodies in a Chinese population.NPJ Parkinson's disease · 2025Article
- Spatial 3D genome organization reveals intratumor heterogeneity in primary glioblastoma samples.Science advances · 2025Article
- Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.Nature genetics · 2025Observational
- Targeting ZC3H11A elicits immunogenic cancer cell death through augmentation of antigen presentation and interferon response.Molecular therapy. Nucleic acids · 2024Article
- A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer.American journal of human genetics · 2024Article
- Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortia.American journal of human genetics · 2024Article
41 more citing papers are in PubMed but not listed here.
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Authors and funding
52 authors at 20 institutions in 9 countries.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Ben ZhangDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Hyuna Sung1] Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea. [2] Genetic Epidemiology Branch, Division of Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Siew-Kee LowLaboratory for Statistical Analysis, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Sun-Seog Kweon1] Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea. [2] Jeonnam Regional Cancer Center, Chonnam National University Hwasun Hospital, Hwasun, South Korea.
Wei LuShanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
Jiajun ShiDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.ORCID 0000000151940009
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Wanqing WenDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Ji-Yeob Choi1] Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea. [2] Cancer Research Institute, Seoul National University College of Medicine, Seoul, South Korea.
Dong-Young Noh1] Cancer Research Institute, Seoul National University College of Medicine, Seoul, South Korea. [2] Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea.
Chen-Yang Shen1] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Taiwan Biobank, Academia Sinica, Taipei, Taiwan. [3] Department of Public Health, College of Public Health, China Medical University, Taichung, Taiwan.
Keitaro MatsuoDepartment of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.
Soo-Hwang Teo1] Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia. [2] University Malaya Cancer Research Institute, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Mi Kyung KimDivision of Cancer Epidemiology and Management, National Cancer Center, Gyeonggi-do, South Korea.
Ui Soon KhooDepartment of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Motoki IwasakiEpidemiology Division, Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan.
Mikael Hartman1] Saw Swee Hock School of Public Health, National University of Singapore, Singapore. [2] Department of Surgery, National University of Singapore, Singapore. [3] Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
Atsushi TakahashiLaboratory for Statistical Analysis, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Kyota AshikawaLaboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Koichi MatsudaLaboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.ORCID 0000000172922686
Min-Ho ShinDepartment of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea.
Min Ho ParkDepartment of Surgery, Chonnam National University Medical School, Gwangju, South Korea.
Ying ZhengShanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
Yong-Bing XiangDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
Bu-Tian JiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA.
Sue K Park1] Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea. [2] Cancer Research Institute, Seoul National University College of Medicine, Seoul, South Korea. [3] Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Pei-Ei Wu1] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Taiwan Biobank, Academia Sinica, Taipei, Taiwan.
Chia-Ni Hsiung1] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Taiwan Biobank, Academia Sinica, Taipei, Taiwan.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
Yoshio KasugaDepartment of Surgery, Nagano Matsushiro General Hospital, Nagano, Japan.
Peter KangCancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Shivaani Mariapun1] Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia. [2] University Malaya Cancer Research Institute, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Sei Hyun AhnDepartment of Surgery, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, South Korea.
Han Sung KangCenter for Breast Cancer, National Cancer Center, Gyeonggi-do, South Korea.
Kelvin Y K Chan1] Department of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China. [2] Department of Obstetrics and Gynaecology, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Ellen P S ManDepartment of Pathology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Hiroji IwataDepartment of Breast Oncology, Aichi Cancer Center Central Hospital, Nagoya, Japan.
Shoichiro TsuganeResearch Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan.
Hui Miao1] Saw Swee Hock School of Public Health, National University of Singapore, Singapore. [2] Department of Surgery, National University of Singapore, Singapore.
Jiemin Liao1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore.
Yusuke NakamuraDepartment of Medicine, University of Chicago, Chicago, Illinois, USA.
Michiaki KuboLaboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
DRIVE GAME-ON Consortium
Ryan J DelahantyDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Yanfeng ZhangDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Bingshan LiDepartment of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Chun LiDepartment of Biostatistics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Daehee Kang1] Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea. [2] Cancer Research Institute, Seoul National University College of Medicine, Seoul, South Korea. [3] Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Vanderbilt University · USSeoul National University · KRRIKEN Center for Integrative Medical Sciences · JPChinese University of Hong Kong · HKChonnam National University Hospital · KRAichi Cancer Center · JPInstitute of Biomedical Sciences, Academia Sinica · TWNational Cancer Center · KRNational University of Singapore · SGShanghai Cancer Institute · CNShanghai Municipal Center For Disease Control Prevention · CNUniversity Malaya Medical Centre · MYAsan Medical Center · KRCancer Research Malaysia · MYChina Medical University · TWKyushu University · JPNagano Matsushiro General Hospital · JPNational Institutes of Health · USSingapore National Eye Center · SGThe University of Tokyo · JP
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MShanghai 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
$4.7MConsortium 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
$2.9MGenome-wide Copy Number Variation and Breast Cancer RiskR01CA137013 · NCI · VANDERBILT UNIVERSITY · PI LONG, JIRONG · 2009 to 2012
$2.4MSoyfood, Gene Polymorphisms and Endometrial Cancer RiskR01CA092585 · NCI · VANDERBILT UNIVERSITY · PI SHU, XIAO-OU · 2001 to 2010
$2.3MCell Cycle/Apoptosis Gene Variants and Breast Cancer RiskR01CA122756 · NCI · VANDERBILT UNIVERSITY · PI CAI, QIUYIN · 2008 to 2011
$2.1MRole of Shh in developmental patterning and proliferation of digit skeletonZ01BC011118 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MACKEM, SUSAN · 2008 to 2008
$297kIntramural NIH HHS Z01 BC011118NCI NIH HHS P30 CA068485NCI NIH HHS P30CA068485NCI NIH HHS R01 CA064277NCI NIH HHS R01CA064277NCI NIH HHS R01 CA092585NCI NIH HHS R01CA092585NCI NIH HHS R01 CA118229NCI NIH HHS R01CA118229NCI NIH HHS R01 CA122756NCI NIH HHS R01CA122756NCI NIH HHS R01 CA124558NCI NIH HHS R01CA124558NCI NIH HHS R01 CA137013NCI NIH HHS R01CA137013NCI NIH HHS R01 CA148667NCI NIH HHS R01CA148667NCI NIH HHS R37 CA070867NCI NIH HHS R37CA070867NCI NIH HHS U19 CA148065NCI NIH HHS U19CA148065NCI NIH HHS UM1 CA182910
Abstract
In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P=0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.
Indexed as
AdultAsia, EasternAsian PeopleBreast NeoplasmsCase-Control StudiesChromosomes, Human, Pair 1Chromosomes, Human, Pair 15Chromosomes, Human, Pair 5FemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMiddle AgedRiskWhite People
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