ArticleBreast cancer research : BCR2022
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci.
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Article in Breast cancer research : BCR, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Interactions between genetic and epidemiological factors influencing mammographic density.American journal of epidemiology · 2026Article
- Evaluating mammographic density polygenic risk score for contralateral breast cancer risk prediction.Scientific reports · 2026Article
- Integrative multivariate genomic analysis reveals shared genetic determinants and druggable targets for vascular calcification.Frontiers in medicine · 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
- Constructing shared genetic architecture between bioavailable testosterone and luminal A breast cancer in female.Breast cancer (Tokyo, Japan) · 2025Article
- Review
- Correlation of RANK and RANKL with mammographic density in primary breast cancer patients.Archives of gynecology and obstetrics · 2024Article
- Disentangling the relationships of body mass index and circulating sex hormone concentrations in mammographic density using Mendelian randomization.Breast cancer research and treatment · 2024Article
- Genetic landscape of interval and screen detected breast cancer.NPJ precision oncology · 2024Article
- Mammographic density mediates the protective effect of early-life body size on breast cancer risk.Nature communications · 2024Article
- Analysis ofJournal of Cancer · 2024Article
- Variance of age-specific log incidence decomposition (VALID): a unifying model of measured and unmeasured genetic and non-genetic risks.International journal of epidemiology · 2023Article
- The mediating role of mammographic density in the protective effect of early-life adiposity on breast cancer risk: a multivariable Mendelian randomization study.medRxiv : the preprint server for health sciences · 2023Article
- Epidemiology and Risk Factors for Breast Cancer: 21st Century Advances, Gaps to Address through Interdisciplinary Science.Cold Spring Harbor perspectives in medicine · 2023Review
- Evaluation of SNPs associated with mammographic density in European women with mammographic density in Asian women from South-East Asia.Breast cancer research and treatment · 2023Article
- Challenges and Opportunities for Data Science in Women's Health.Annual review of biomedical data science · 2023Review
- Omics-Based Investigations of Breast Cancer.Molecules (Basel, Switzerland) · 2023Review
- Update Breast Cancer 2023 Part 1 - Early Stage Breast Cancer.Geburtshilfe und Frauenheilkunde · 2023Article
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Authors and funding
57 authors.
Hongjie ChenDepartment of Epidemiology, School of Public Health, University of Washington, 3980 15th Ave NE, Box 351619, Seattle, WA, 98195, USA.
Shaoqi FanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Jennifer StoneSchool of Population and Global Health, University of Western Australia, Crawley, Australia.
Deborah J ThompsonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Julie DouglasDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
Shuai LiCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Christopher ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Manjeet K BollaCentre 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.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Christopher LiDepartment of Epidemiology, School of Public Health, University of Washington, 3980 15th Ave NE, Box 351619, Seattle, WA, 98195, USA.
Ulrike PetersDepartment of Epidemiology, School of Public Health, University of Washington, 3980 15th Ave NE, Box 351619, Seattle, WA, 98195, USA.
John L HopperCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Tu Nguyen-DumontPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Tuong L NguyenCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Annika BehrensDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Gemma CadbySchool of Population and Global Health, University of Western Australia, Crawley, Australia.
Rachel A MurphyCancer Control Research, BC Cancer and School of Population and Public Health, University of British Columbia, Vancouver, Canada.
Kristan AronsonPublic Health Sciences, Queen's University, Kingston, Canada.
Anthony HowellDivision of Cancer Sciences, University of Manchester, Manchester, UK.
Susan AstleyDivision of Informatics, Imaging and Data Sciences, University of Manchester, Manchester, UK.
Fergus CouchDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Janet OlsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Roger L MilneCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Graham G GilesCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Christopher A HaimanCenter for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Gertraud MaskarinecEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Stacey WinhamDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Esther M JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Allison KurianDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Heather EliassenDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Irene AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.
D Gareth EvansDivision of Evolution and Genomic Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
William G NewmanDivision of Evolution and Genomic Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Anthony SwerdlowDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Michael JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Marina PollanCancer and Environmental Epidemiology Unit, National Center for Epidemiology, Carlos III Institute of Health, Madrid, Spain.
Pablo Fernandez-NavarroCancer and Environmental Epidemiology Unit, National Center for Epidemiology, Carlos III Institute of Health, Madrid, Spain.
Daniel S McConnellDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Vessela N KristensenDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
NBCS Investigators
Joseph H RothsteinDepartment of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Pei WangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Laurel A HabelDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
Weiva SiehDepartment of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, 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.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Gretchen L GierachDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Rulla M TamimiDivision of Epidemiology, Population Health Science, Weill Cornell Medicine, New York, NY, USA.
Celine M VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Sara LindströmDepartment of Epidemiology, School of Public Health, University of Washington, 3980 15th Ave NE, Box 351619, Seattle, WA, 98195, USA. saralind@uw.edu.ORCID 0000-0002-7137-7281
Funding
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI AKHILESH PANDEY · 1985 to 2026
$151.3MTHE TISCH CANCER INSTITUTE - CANCER CENTER SUPPORT GRANTP30CA196521 · NCI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ramon E Parsons · 2015 to 2026
$35.4MQuantifying and Characterizing the shared genetic contribution to common cancersU01CA194393 · NCI · UNIVERSITY OF WASHINGTON · PI KRAFT, PETER, LINDSTROEM, SARA · 2015 to 2023
$3.0MGenome-Wide Association Study of Mammographic DensityR01CA166827 · NCI · STANFORD UNIVERSITY · PI HABEL, LAUREL A, SIEH, WEIVA · 2012 to 2016
$2.3MGenomic and Transcriptomic Analysis of Mammographic DensityR01CA237541 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI HABEL, LAUREL A, SIEH, WEIVA · 2020 to 2023
$2.0MIntegration of genetic, gene expression and environmental data to inform biological basis of mammographic densityR01CA244670 · NCI · UNIVERSITY OF WASHINGTON · PI LINDSTROEM, SARA · 2021 to 2024
$1.8MLeveraging cross-cancer shared heritability to better understand the genetic architecture of cancerR01CA194393 · NCI · UNIVERSITY OF WASHINGTON · PI KRAFT, PETER, LINDSTROEM, SARA · 2020 to 2022
$1.6MNCI NIH HHS P30 CA015083NCI NIH HHS P30 CA196521NCI NIH HHS R01 CA166827NCI NIH HHS R01 CA194393NCI NIH HHS R01 CA237541NCI NIH HHS R01 CA244670NCI NIH HHS U01 CA194393
Abstract
backgroundMammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenotypes are highly heritable. However, only a small proportion of their variance is explained by identified genetic variants.
methodsWe conducted a genome-wide association study, as well as a transcriptome-wide association study (TWAS), of age- and BMI-adjusted DA, NDA, and PMD in up to 27,900 European-ancestry women from the MODE/BCAC consortia.
resultsWe identified 28 genome-wide significant loci for MD phenotypes, including nine novel signals (5q11.2, 5q14.1, 5q31.1, 5q33.3, 5q35.1, 7p11.2, 8q24.13, 12p11.2, 16q12.2). Further, 45% of all known breast cancer SNPs were associated with at least one MD phenotype at p < 0.05. TWAS further identified two novel genes (SHOX2 and CRISPLD2) whose genetically predicted expression was significantly associated with MD phenotypes.
conclusionsOur findings provided novel insight into the genetic background of MD phenotypes, and further demonstrated their shared genetic basis with breast cancer.
Indexed as
Breast DensityBreast NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotideTranscriptomeBreast cancerGenome-wide association study (GWAS)Mammographic densityTranscriptome-wide association study (TWAS)
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