Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
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We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.
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Of 101 SNPs with genome-wide significance for overall breast cancer, 23 also showed associations (P<0.05) with endometriosis.
“Of these, 23 SNPs also showed associations (P<0.05) with endometriosis.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [27]
No overlap (LD r2<0.17) was found between the five breast cancer signals at 6q25.1 and the four independent SNPs at the 6q25.1 (ESR1) locus.
“We found no overlap (LD r2<0.17) between these five breast cancer signals and our four independent SNPs at the 6q25.1 (ESR1) locus.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [27]
Variants at the 6q25.1 locus have recently been associated with overall breast cancer and its sub-phenotypes including tumour subtypes, mammographic density and tumour grade.
“Variants at this locus have recently been associated with overall breast cancer and its sub-phenotypes including tumour subtypes, mammographic density and tumour grade27.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [27]
The 6q25.1 region is a well-established susceptibility locus for breast cancer in both Europeans and Asians.
“The 6q25.1 region is a well-established susceptibility locus for breast cancer in both Europeans and Asians274344.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [27]
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Chromatin interactome mapping at 139 independent breast cancer risk signals
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Self-citationPerspectives on Drug Repurposing
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Genetics of endometriosis: state of the art on genetic risk factors for endometriosis
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Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
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Self-citationCRISPR screens identify gene targets at breast cancer risk loci
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“Following fine mapping to identify the CCVs for BC, prioritizing loci with relatively few CCVs, chromatin conformation capture (3C) and luciferase assays have been performed at 16 BC risk loci implicating regulation of TERT [40], CCND1 [41], FGFR2 [42], IGFBP5 [43], MAP3K1 [44], ESR1, RMND1 and CCDC170 [45], KLF4”
MethodSelf-citationCommon variants in breast cancer risk loci predispose to distinct tumor subtypes
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Self-citationExperimental Models as Refined Translational Tools for Breast Cancer Research
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Fusion‐associated carcinomas of the breast: Diagnostic, prognostic, and therapeutic significance
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Self-citationTranslating Germline Cancer Risk into Precision Prevention
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Self-citationNon-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine
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Genetic variations of DNA bindings of FOXA1 and co-factors in breast cancer susceptibility
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Self-citationNature-Inspired Multiobjective Epistasis Elucidation from Genome-Wide Association Studies
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Self-citationCharacterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry
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Self-citationGenetic variation in sensitivity to estrogens and breast cancer risk
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Genetic Modifiers of the Breast Tumor Microenvironment
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Self-citationCommon Susceptibility Loci for Male Breast Cancer
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Self-citationInsights from genomic studies on the role of sex steroids in the aetiology of endometriosis
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Self-citationBreast cancer family history and allele-specific DNA methylation in the legacy girls study
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Self-citationSerum semaphorin 4C as a diagnostic biomarker in breast cancer: A multicenter retrospective study
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Survival and Disease-Free Survival by Breast Density and Phenotype in Interval Breast Cancers
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From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes
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Rapid and quantitative functional interrogation of human enhancer variant activity in live mice
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Failure to Guard: Mitochondrial Protein Quality Control in Cancer
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Supervariants identification for breast cancer
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Genomic Diversity in Sporadic Breast Cancer in a Latin American Population
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Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review
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Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women
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A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
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Self-citationAlternative splicing of transposable elements in human breast cancer
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The contribution of silencer variants to human diseases
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Self-citationUtilizing Human Genetics to Develop Chemoprevention for Cancer—Too Good an Opportunity to be Missed
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Self-citationABC-GWAS: Functional Annotation of Estrogen Receptor-Positive Breast Cancer Genetic Variants
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Self-citationGenetic Risk Factors for Endometriosis
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- Authors
- EMBRACE, Dunning, A. M., Collaborators, G. S., HEBON, kConFab Investigators, Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., Healey, C. S., Kar, S., Pooley, K. A., Lopez-Knowles, E., Dicks, E., Barrowdale, D., Sinnott-Armstrong, N. A., Sallari, R. C., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Marjaneh, M. M., Lee, J. S., Hills, M., Jarosz, M., Drury, S., Canisius, S., Bolla, M. K., Dennis, J., Wang, Q., Hopper, J. L., Southey, M. C., Broeks, A., Schmidt, M. K., Lophatananon, A., Muir, K., Beckmann, M. W., Fasching, P. A., dos-Santos-Silva, I., Peto, J., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., González-Neira, A., Perez, J. I. A., Anton-Culver, H., Eunjung, L., Arndt, V., Brenner, H., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Aittomäki, K., Blomqvist, C., Ito, H., Matsuo, K., Bogdanova, N., Dörk, T., Lindblom, A., Margolin, S., Kosma, V.-M., Mannermaa, A., Tseng, C.-C., Wu, A. H., Lambrechts, D., Wildiers, H., Chang-Claude, J., Rudolph, A., Peterlongo, P., Radice, P., Olson, J. E., Giles, G. G., Milne, R. L., Haiman, C. A., Henderson, B. E., Goldberg, M. S., Teo, S. H., Yip, C. H., Nord, S., Borresen-Dale, A.-L., Kristensen, V., Long, J., Zheng, W., Pylkäs, K., Winqvist, R., Andrulis, I. L., Knight, J. A., Devilee, P., Seynaeve, C., Figueroa, J., Sherman, M. E., Czene, K., Darabi, H., Hollestelle, A., van den Ouweland, A. M. W., Humphreys, K., Gao, Y.-T., Shu, X.-O., Cox, A., Cross, S. S., Blot, W., Cai, Q., Ghoussaini, M., Perkins, B. J., Shah, M., Choi, J.-Y., Kang, D., Lee, S. C., Hartman, M., Kabisch, M., Torres, D., Jakubowska, A., Lubinski, J., Brennan, P., Sangrajrang, S., Ambrosone, C. B., Toland, A. E., Shen, C.-Y., Wu, P.-E., Orr, N., Swerdlow, A., McGuffog, L., Healey, S., Lee, A., Kapuscinski, M., John, E. M., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., Ejlertsen, B., Hansen, T. V. O., Osorio, A., Benitez, J., Rando, R., Weitzel, J. N., Bonanni, B., Peissel, B., Manoukian, S., Papi, L., Ottini, L., Konstantopoulou, I., Apostolou, P., Garber, J., Rashid, M. U., Frost, D., Izatt, L., Ellis, S., Godwin, A. K., Arnold, N., Niederacher, D., Rhiem, K., Bogdanova-Markov, N., Sagne, C., Stoppa-Lyonnet, D., Damiola, F., Sinilnikova, O. M., Mazoyer, S., Isaacs, C., Claes, K. B. M., De Leeneer, K., de la Hoya, M., Caldes, T., Nevanlinna, H., Khan, S., Mensenkamp, A. R., Hooning, M. J., Rookus, M. A., Kwong, A., Olah, E., Diez, O., Brunet, J., Pujana, M. A., Gronwald, J., Huzarski, T., Barkardottir, R. B., Laframboise, R., Soucy, P., Montagna, M., Agata, S., Teixeira, M. R., Park, S. K., Lindor, N., Couch, F. J., Tischkowitz, M., Foretova, L., Vijai, J., Offit, K., Singer, C. F., Rappaport, C., Phelan, C. M., Greene, M. H., Mai, P. L., Rennert, G., Imyanitov, E. N., Hulick, P. J., Phillips, K.-A., Piedmonte, M., Mulligan, A. M., Glendon, G., Bojesen, A., Thomassen, M., Caligo, M. A., Yoon, S.-Y., Friedman, E., Laitman, Y., Borg, A., von Wachenfeldt, A., Ehrencrona, H., Rantala, J., Olopade, O. I., Ganz, P. A., Nussbaum, R. L., Gayther, S. A., Nathanson, K. L., Domchek, S. M., Arun, B. K., Mitchell, G., Karlan, B. Y., Lester, J., Maskarinec, G., Woolcott, C., Scott, C., Stone, J., Apicella, C., Tamimi, R., Luben, R., Khaw, K.-T., Helland, Å., Haakensen, V., Dowsett, M., Pharoah, P. D. P., Simard, J., Hall, P., García-Closas, M., Vachon, C., Chenevix-Trench, G., Antoniou, A. C., Easton, D. F., & Edwards, S. L.
- Affiliations
- University of Cambridge (GB)
- QIMR Berghofer Medical Research Institute (AU)
- The University of Melbourne (AU)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- University of Warwick (GB)
- University of Manchester (GB)
- Guy's Hospital (GB)
- Centre for Human Genetics (GB)
- Heidelberg University (DE)
- Université Paris-Sud (FR)
- University of Copenhagen (DK)
- University of Southern California (US)
- German Cancer Research Center (DE)
- Helsinki University Hospital (FI)
- University of Helsinki (FI)
- Karolinska Institutet (SE)
- Karolinska University Hospital (SE)
- University of Eastern Finland (FI)
- IFOM (IT)
- Universitair Ziekenhuis Leuven (BE)
- Mayo Clinic (US)
- Cancer Council Victoria (AU)
- University Malaya Medical Centre (MY)
- Oslo University Hospital (NO)
- Mount Sinai Hospital (CA)
- Oulu University Hospital (FI)
- Leiden University Medical Center (NL)
- Erasmus MC (NL)
- Vanderbilt University (US)
- Seoul National University (KR)
- National University of Singapore (SG)
- Roswell Park Comprehensive Cancer Center (US)
- China Medical University (TW)
- Institute of Biomedical Sciences, Academia Sinica (TW)
- Institute of Cancer Research (GB)
- Cancer Prevention Institute of California (US)
- Fox Chase Cancer Center (US)
- State Research Institute Centre for Innovative Medicine (LT)
- Beth Israel Deaconess Medical Center (US)
- University of Utah (US)
- Latvian Biomedical Research and Study Centre (LV)
- Copenhagen University Hospital (DK)
- Spanish National Cancer Research Centre (ES)
- City Of Hope National Medical Center (US)
- European Institute of Oncology (IT)
- National Centre of Scientific Research "Demokritos" (GR)
- Dana-Farber Cancer Institute (US)
- Shaukat Khanum Memorial Cancer Hospital and Research Center (PK)
- National Health Service (GB)
- University of Münster (DE)
- Centre National de la Recherche Scientifique (FR)
- Sorbonne Paris Cité (FR)
- Georgetown University (US)
- Radboud University Medical Center (NL)
- The Netherlands Cancer Institute (NL)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- University of Iceland (IS)
- Centre hospitalier universitaire de Québec (CA)
- Istituto Oncologico Veneto (IT)
- Universidade do Porto (PT)
- Comprehensive Cancer Center Vienna (AT)
- Memorial Sloan Kettering Cancer Center (US)
- National Institutes of Health (US)
- Moffitt Cancer Center (US)
- University Health Network (CA)
- Peter MacCallum Cancer Centre (AU)
- University of Pisa (IT)
- Sheba Medical Center (IL)
- Uppsala University (SE)
- University of Chicago Medical Center (US)
- University of California, Los Angeles (US)
- The University of Texas MD Anderson Cancer Center (US)
- Cedars-Sinai Medical Center (US)
- Dalhousie University (CA)
- Brigham and Women's Hospital (US)
- The University of Western Australia (AU)
- Corresponding author
- Dunning, Alison M
- Easton, Douglas F
- Edwards, Stacey L
- ORCID
- Dunning, Alison M
- Michailidou, Kyriaki
- Kuchenbaecker, Karoline B
- Thompson, Deborah
- French, Juliet D
- Kar, Siddhartha
- Pooley, Karen A
- Dicks, Ed
- Barrowdale, Daniel
- Sallari, Richard C
- Hillman, Kristine M
- Sivakumaran, Haran
- Marjaneh, Mahdi Moradi
- Lee, Jason S
- Canisius, Sander
- Bolla, Manjeet K
- Dennis, Joe
- Hopper, John L
- Southey, Melissa C
- Broeks, Annegien
- Schmidt, Marjanka K
- Lophatananon, Artitaya
- Muir, Kenneth
- Beckmann, Matthias W
- Fasching, Peter A
- Peto, Julian
- Sawyer, Elinor J
- Tomlinson, Ian
- Burwinkel, Barbara
- Guénel, Pascal
- Truong, Thérèse
- Bojesen, Stig E
- Arndt, Volker
- Brenner, Hermann
- Meindl, Alfons
- Brauch, Hiltrud
- Hamann, Ute
- Blomqvist, Carl
- Ito, Hidemi
- Matsuo, Keitaro
- Dörk, Thilo
- Lindblom, Annika
- Margolin, Sara
- Kosma, Veli-Matti
- Tseng, Chiu-chen
- Wu, Anna H
- Lambrechts, Diether
- Wildiers, Hans
- Chang-Claude, Jenny
- Rudolph, Anja
- Peterlongo, Paolo
- Radice, Paolo
- Olson, Janet E
- Giles, Graham G
- Milne, Roger L
- Goldberg, Mark S
- Teo, Soo H
- Yip, Cheng Har
- Nord, Silje
- Kristensen, Vessela
- Long, Jirong
- Zheng, Wei
- Pylkäs, Katri
- Winqvist, Robert
- Andrulis, Irene L
- Knight, Julia A
- Devilee, Peter
- Figueroa, Jonine
- Czene, Kamila
- Hollestelle, Antoinette
- Humphreys, Keith
- Gao, Yu-Tang
- Shu, Xiao-Ou
- Cox, Angela
- Cross, Simon S
- Blot, William
- Cai, Qiuyin
- Ghoussaini, Maya
- Shah, Mitul
- Choi, Ji-Yeob
- Kang, Daehee
- Lee, Soo Chin
- Hartman, Mikael
- Torres, Diana
- Jakubowska, Anna
- Brennan, Paul
- Sangrajrang, Suleeporn
- Ambrosone, Christine B
- Toland, Amanda E
- Shen, Chen-Yang
- Wu, Pei-Ei
- Orr, Nick
- Swerdlow, Anthony
- Lee, Andrew
- John, Esther M
- Terry, Mary Beth
- Buys, Saundra S
- Tung, Nadine
- Neuhausen, Susan L
- Ejlertsen, Bent
- Hansen, Thomas V O
- Benitez, Javier
- Weitzel, Jeffrey N
- Bonanni, Bernardo
- Peissel, Bernard
- Manoukian, Siranoush
- Papi, Laura
- Ottini, Laura
- Konstantopoulou, Irene
- Apostolou, Paraskevi
- Garber, Judy
- Rashid, Muhammad Usman
- Izatt, Louise
- Godwin, Andrew K
- Arnold, Norbert
- Niederacher, Dieter
- Rhiem, Kerstin
- Damiola, Francesca
- Mazoyer, Sylvie
- Isaacs, Claudine
- Claes, Kathleen B M
- Nevanlinna, Heli
- Khan, Sofia
- Mensenkamp, Arjen R
- Hooning, Maartje J
- Rookus, Matti A
- Kwong, Ava
- Brunet, Joan
- Gronwald, Jacek
- Huzarski, Tomasz
- Barkardottir, Rosa B
- Laframboise, Rachel
- Montagna, Marco
- Agata, Simona
- Teixeira, Manuel R
- Park, Sue Kyung
- Lindor, Noralane
- Couch, Fergus J
- Tischkowitz, Marc
- Vijai, Joseph
- Singer, Christian F
- Rappaport, Christine
- Greene, Mark H
- Rennert, Gad
- Hulick, Peter J
- Phillips, Kelly-Anne
- Mulligan, Anna Marie
- Glendon, Gord
- Bojesen, Anders
- Thomassen, Mads
- Caligo, Maria A
- Friedman, Eitan
- Laitman, Yael
- Ehrencrona, Hans
- Olopade, Olufunmilayo I
- Ganz, Patricia A
- Nussbaum, Robert L
- Gayther, Simon A
- Nathanson, Katherine L
- Domchek, Susan M
- Arun, Banu K
- Karlan, Beth Y
- Maskarinec, Gertraud
- Woolcott, Christy
- Scott, Christopher
- Stone, Jennifer
- Tamimi, Rulla
- Luben, Robert
- Khaw, Kay-Tee
- Helland, Åslaug
- Haakensen, Vilde
- Dowsett, Mitch
- Pharoah, Paul D P
- Simard, Jacques
- Hall, Per
- Vachon, Celine
- Antoniou, Antonis C
- Easton, Douglas F
- Edwards, Stacey L
- Venue
- Nature Genetics
- Published
- 2016-02-29
- Volume
- 48
- Issue
- 4
- Pages
- 374-386
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4938803
- OpenAlex
- W2291123596
- Cited by
- 161
- References
- 47
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 17 · 2023: 14 · 2022: 14 · 2021: 18 · 2020: 19 · 2019: 21 · 2018: 16 · 2017: 15 · 2016: 8
- FWCI
- 2.68
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion)
- PubMed (publishedVersion)
- Kölner Universitäts PublikationsServer (Universität zu Köln) (publishedVersion)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (publishedVersion, cc-by-nc-sa)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- PubMed Central (acceptedVersion)
- LSHTM Research Online (London School of Hygiene and Tropical Medicine) (acceptedVersion)
- Apollo (University of Cambridge) (acceptedVersion)
- Florence Research (University of Florence) (submittedVersion, other-oa)
- UWA Profiles and Research Repository (UWA) (submittedVersion, other-oa)
- National University of Singapore (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lirias (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (submittedVersion, cc-by-nc-sa)
- Repositorio Institucional (Pontificia Universidad Javeriana) (submittedVersion, cc-by-nc)
- Radboud Repository (Radboud University) (submittedVersion)
- UpSpace Institutional Repository (University of Pretoria) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- U.S. Department of Defense (C5047/A10692, C1287/A10118, W81XWH, C1287/A10710, C8197/A16565, C1281/A12014, C5047/A8384, C12292/A11174, C5047/A15007, CA128978, W81XWH1010341, 223175)
- Breast Cancer Research Foundation (C5047/A10692, C5047/A15007, C1287/A10118, CA116201, CA128978, W81XWH-10-1-0341, C8197/A16565, C5047/A8384, C1287/A10710, C1281/A12014, C12292/A11174, HEALTH-F2-2009-223175)
- Ovarian Cancer Research Fund (CA116201, W81XWH-10-1-0341, C1281/A12014, C1287/A10118, C8197/A16565, C12292/A11174, CA128978, C1287/A10710, C5047/A10692, C5047/A15007, C5047/A8384, HEALTH-F2-2009-223175)
- World Health Organization
- McGill University
- Francis Crick Institute (10124, 10119)
- Génome Québec
- Cancer Research UK (C8197/A16565’, 223175, 11174, C1281/A12014, 10119, C5047/A15007’, C1287‐A10118, HEALTHF2-2009-223175, 16561, 16565, C12292/A11174, ‘C5047/A10692, C1287, C12292, C5047/A8384, 10118, 14136, CA116201, 10124, CA128978, C1287-A10710, W81XWH-10-1-0341, C1281)
- National Institute for Health and Care Research (C5047/A15007, W81XWH-10-1-0341, C8197/A16565, HEALTH-F2-2009-223175, 03/DHCS/03/G121/51, CA116201, CA128978, NF-SI-0512-10122, C1287/A10118, C1281/A12014, C1287/A10710, NF-SI-0512-10114, C5047/A10692, C12292/A11174, C5047/A8384)
- Università degli Studi di Firenze
- Ministero dell'Università e della Ricerca
- National Institutes of Health (C1281/A12014, CA11620 1, 223175, W81XWH-10-1-0341, C8197/A16565, 5r01ca132839-03, C12292/A11174, W81XWH, C1287/A10118, C1287/A10710, C5047/A10692, HEALTH-F2-2009-223175, C5047/A15007, C5047/A8384, CA116167, CA148065, CA148112)
- Canadian Institutes of Health Research (C1287/A10710, C5047/A8384, C5047/A15007, C5047/A10692, C1287/A10118, CA128978, C8197/A16565, C1281/A12014, C12292/A11174, CA116201, W81XWH-10-1-0341, HEALTH-F2-2009-223175, 223175)
- Medical Research Council (MR/N003284/1)
- Japan Society for the Promotion of Science (26253041)
- National Cancer Institute (R01CA128978, R01CA092447, R01CA064277, R01CA097396, R01CA077398, U19CA148065, CA116167, UG1CA189867, U01CA063464, R01CA148667, R01CA116167, R37CA054281, U19CA148537, R01CA122340, UM1CA164920, CA-116201, U10CA180868, R01CA054281, R01CA192393, R01-CA132839, R01CA100374, U01CA098758, U19CA148112, CA176785, R25CA090956, CA192393, (CA128978, U01CA116167, R01CA176785, UM1CA182910, P30CA006927, P30CA008748, P30CA016056, P50CA116201)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- breast cancer, ESR1, estrogen receptor alpha, regulatory variants, enhancers, silencers, estrogen receptor-negative tumors, HER2 status, breast density, tumor grade, gene expression regulation, causal variants
- MeSH terms
- Base Sequence, Breast Neoplasms, Carrier Proteins, Chromosomes, Human, Pair 6, Female, Humans, Phenotype, Protein Binding, Risk Factors, Gene Expression, Gene Expression Regulation, Neoplastic, Cell Cycle Proteins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Estrogen Receptor alpha, Genetic Association Studies
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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