ArticleNature communications2014
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
Erratum issuedOpen access · bronzeAbstract read
In one paragraph
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 93 papers, 7 of them syntheses that pooled it.
0numbers the graph read from it
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93citing papers in PubMed, 7 pooled it
8.2field-weighted citation impact, top 2% of its field
What it found
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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.
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Who cites it
93 citing papers in PubMed, 7 syntheses or guidelines pooled it, 140 citations in OpenAlex.
- Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Pooled it
- Association ofJCO global oncology · 2022Pooled it
- Chemoprevention Agents to Reduce Mammographic Breast Density in Premenopausal Women: A Systematic Review of Clinical Trials.JNCI cancer spectrum · 2021Pooled it
- Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.Nature communications · 2020Pooled it
- Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.Scientific reports · 2018Pooled it
- Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Nature genetics · 2016Pooled it
- A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density.Breast cancer research : BCR · 2015Pooled it
- Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.Genome medicine · 2025Trial
- Evaluating mammographic density polygenic risk score for contralateral breast cancer risk prediction.Scientific reports · 2026Article
- Cell-type aware transcriptome-wide association study of mammographic density phenotypes.medRxiv : the preprint server for health sciences · 2025Article
- Genome-wide association study of Asian women identifies putative mammographic density-associated loci.Breast cancer research : BCR · 2025Article
- Integrated summary data-based Mendelian randomization and colocalization analysis reveals TNNT3 as a target of Deer-Antler-Ginseng-formula for triple-negative breast cancer.Discover oncology · 2025Article
- Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.American journal of human genetics · 2025Article
- Article
- Pathogenic variants inmedRxiv : the preprint server for health sciences · 2025Article
- Human cytomegalovirus infection coopts chromatin organization to diminish TEAD1 transcription factor activity.bioRxiv : the preprint server for biology · 2025Article
- Multiplex imaging reveals novel patterns of MRTFA/B activation in the breast cancer microenvironment.Journal of translational medicine · 2025Article
- Deletion of Transmembrane protein 184b leads to retina degeneration in mice.Cell proliferation · 2025Article
- Permutation Test for Image-on-Scalar Regression With an Application to Breast Cancer.Statistics in medicine · 2024Article
- Mammographic density mediates the protective effect of early-life body size on breast cancer risk.Nature communications · 2024Article
33 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
45 authors at 18 institutions in 7 countries.
Sara Lindström1] Program in Genetic Epidemiology and Statistical Genetics, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [2] Department of Epidemiology, Harvard School Of Public Health, Boston, Massachusetts 02115, USA.
Deborah J Thompson1] Centre for Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK [2] Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Andrew D PatersonProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
Jingmei LiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Gretchen L GierachHormonal and Reproductive Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20850, USA.
Christopher ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Jennifer StoneCentre for Genetic Origins of Health and Disease, University of Western Australia, Perth, Western Australia 6009, Australia.
Julie A DouglasDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
Isabel dos-Santos-SilvaFaculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Pablo Fernandez-Navarro1] Cancer and Environmental Epidemiology Unit, National Center for Epidemiology, Carlos III Institute of Health, Madrid 28029, Spain [2] Consortium for Biomedical Research in Epidemiology and Public Health (CIBER en Epidemiología y Salud Pública-CIBERESP), Madrid 28029, Spain.
Jajini Verghase1] Centre for Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK [2] Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK [3] Plastic Surgery Unit, Royal Free Hospital, London NW3 2QG, UK.
Paula Smith1] Centre for Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK [2] Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Judith Brown1] Centre for Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK [2] Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Robert LubenCentre for Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK.
Nicholas J WarehamMedical Research Council (MRC) Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB1 8RN, UK.
Ruth J F Loos1] Medical Research Council (MRC) Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB1 8RN, UK [2] The Icahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, The Mindich Child Health and Development Institute, New York, New York 10029, USA.
John A HeitDivision of Cardiovascular Disease, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
V Shane PankratzDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Aaron NormanDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Ellen L GoodeDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Julie M CunninghamDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Mariza deAndradeDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Robert A VierkantDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Peter A Fasching1] Department of Gynecology and Obstetrics, Erlangen University Hospital, Friedrich Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 910 54 Erlangen, Germany [2] Division Hematology/Oncology, Department of Medicine, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, California 90024, USA.
Laura Baglietto1] Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria 3004, Australia [2] Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.
Melissa C SoutheyDepartment of Pathology, University of Melbourne, Melbourne, Victoria 3010, Australia.
Graham G Giles1] Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria 3004, Australia [2] Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.
Kaanan P ShahDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
Heang-Ping ChanDepartment of Radiology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
Mark A HelvieDepartment of Radiology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
Andrew H BeckDepartment of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA.
Nicholas W KnoblauchDepartment of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA.
Aditi Hazra1] Program in Genetic Epidemiology and Statistical Genetics, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [2] Department of Epidemiology, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [3] Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
David J Hunter1] Program in Genetic Epidemiology and Statistical Genetics, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [2] Department of Epidemiology, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [3] Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Peter Kraft1] Program in Genetic Epidemiology and Statistical Genetics, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [2] Department of Epidemiology, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [3] Department of Biostatistics, Harvard School Of Public Health, Boston, Massachusetts 02115, USA.
Marina Pollan1] Cancer and Environmental Epidemiology Unit, National Center for Epidemiology, Carlos III Institute of Health, Madrid 28029, Spain [2] Consortium for Biomedical Research in Epidemiology and Public Health (CIBER en Epidemiología y Salud Pública-CIBERESP), Madrid 28029, Spain.
Jonine D FigueroaHormonal and Reproductive Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20850, USA.
Fergus J Couch1] Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA [2] Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Douglas F Easton1] Centre for Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK [2] Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK [3] Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Norman F BoydCampbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, Toronto, Ontario, Canada M5G 2M9.
Celine M VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Rulla M Tamimi1] Program in Genetic Epidemiology and Statistical Genetics, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [2] Department of Epidemiology, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [3] Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Mayo Clinic in Florida · USHarvard University · USUniversity of Cambridge · GBUniversity of Michigan–Ann Arbor · USKarolinska Institutet · SEMRC Epidemiology Unit · GBCancer Council Victoria · AUInstituto de Salud Carlos III · ESMayo Clinic · USNational Cancer Institute · USUniversity of Melbourne · AUBeth Israel Deaconess Medical Center · USBrigham and Women's Hospital · USFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHospital for Sick Children · CALondon School of Hygiene & Tropical Medicine · GBOntario Institute for Cancer Research · CAUniversity of Western Australia · AU
Funding
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI AKHILESH PANDEY · 1985 to 2026
$151.3MStatistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9MVariation in Receptor Tyrosine Kinases and Breast Cancer RiskP50CA089393 · NCI · DANA-FARBER CANCER INSTITUTE · PI WINER, ERIC P · 2000 to 2009
$28.8MLong Term Multidisciplinary Study of Cancer in Women: The Nurses Health StudyUM1CA186107 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, STAMPFER, MEIR · 2014 to 2023
$22.3MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MBIOCHEMICAL MARKERS IN THE NURSES'HEALTH STUDY COHORTR01CA049449 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HANKINSON, SUSAN E · 1989 to 2008
$11.3MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MEpidemiological and Clinical Translational Studies Post Genome-Wide AssociationU19CA148537 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI EASTON, DOUGLAS FREDERICK, EELES, ROSALIND · 2010 to 2014
$10.4MOvarian cancer GWAS discovery, expansion and replication (N2 - Project #1)U19CA148112 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2010 to 2014
$10.2MBIOCHEMICAL MARKERS IN THE NURSES HEALTH STUDY COHORTU01CA049449 · NCI · UNIVERSITY OF MASSACHUSETTS AMHERST · PI HANKINSON, SUSAN E · 1995 to 2013
$5.4MA genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8MBritish Heart FoundationCancer Research UK 16563Cancer Research UK C12292/A11174Cancer Research UK C1281/A12014Cancer Research UK C1287/8459Cancer Research UK C1287/A10118Cancer Research UK C1287/A 10710Cancer Research UK C490/A10124Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384CIHRDepartment of HealthIntramural NIH HHSMedical Research Council MC_U106179471Medical Research Council MC_UU_12015/1NCI NIH HHS 1U19 CA148065NCI NIH HHS 1U19 CA148112NCI NIH HHS 1U19 CA148537NCI NIH HHS CA049449NCI NIH HHS CA075016NCI NIH HHS CA087969NCI NIH HHS CA089393NCI NIH HHS CA116201NCI NIH HHS CA122340NCI NIH HHS CA122844NCI NIH HHS CA128931NCI NIH HHS CA128978NCI NIH HHS CA131332NCI NIH HHS CA148065NCI NIH HHS CA173785NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA015083NCI NIH HHS P50 CA089393NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA122340NCI NIH HHS R01 CA122844NCI NIH HHS R01 CA124865NCI NIH HHS R01 CA128931NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA131332NCI NIH HHS U01 CA049449NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UM1 CA186107NHGRI NIH HHS T32 HG000040NHGRI NIH HHS X01 HG005954NLM NIH HHS K22 LM011931NLM NIH HHS K22LM011931
Abstract
Mammographic density reflects the amount of stromal and epithelial tissues in relation to adipose tissue in the breast and is a strong risk factor for breast cancer. Here we report the results from meta-analysis of genome-wide association studies (GWAS) of three mammographic density phenotypes: dense area, non-dense area and percent density in up to 7,916 women in stage 1 and an additional 10,379 women in stage 2. We identify genome-wide significant (P<5 × 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). Four of these regions are known breast cancer susceptibility loci, and four additional regions were found to be associated with breast cancer (P<0.05) in a large meta-analysis. These results provide further evidence of a shared genetic basis between mammographic density and breast cancer and illustrate the power of studying intermediate quantitative phenotypes to identify putative disease-susceptibility loci.
Indexed as
Genetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyBreast DensityBreast NeoplasmsCase-Control StudiesFemaleHumansMammary Glands, HumanPolymorphism, Single NucleotideRadiography
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