Evidence map›Paper›PMID 26073781›Full record

ArticleAmerican journal of human genetics2015

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.

Hatef Darabi, Karen McCue, Jonathan Beesley, Kyriaki Michailidou, Silje Nord, Siddhartha Kar, Keith Humphreys, Deborah Thompson, Maya Ghoussaini, Manjeet K Bolla and 121 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
1.8field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

27 citing papers in PubMed, 45 citations in OpenAlex.

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  17. Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

131 authors at 20 institutions in 25 countries.

Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Karen McCueDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Jonathan BeesleyDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Silje NordDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0310 Oslo, Norway; K.G. Jebsen Center for Breast Cancer Research, Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Kirkeveien 166, 0450 Oslo, Norway.
Siddhartha KarCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Deborah ThompsonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Maya GhoussainiCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Sander CanisiusNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands.
Christopher G ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Carmel ApicellaCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
Melissa C SoutheyDepartment of Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia.
Jennifer StoneCentre for Genetic Origins of Health and Disease, University of Western Australia, Crawley, WA 6009, Australia.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, 1066 CX Amsterdam, the Netherlands.
Rodney J ScottDiscipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, University of Newcastle, Newcastle, NSW 2308, Australia; Division of Molecular Medicine, Pathology North, John Hunter Hospital and The Hunter Medical Research Institute, Newcastle, NSW 2305, Australia.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK; Institute of Population Health, University of Manchester, Manchester M13 9PL, UK.
Matthias W BeckmannUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany.
Arif B EkiciInstitute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany.
Peter A FaschingUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany; Department of Medicine Division of Hematology and Oncology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Katharina HeusingerUniversity Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, 91054 Erlangen, Germany.
Isabel Dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.
Ian TomlinsonWellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK.
Elinor J SawyerResearch Oncology, Division of Cancer Studies, King's College London, Guy's Hospital, London SE1 9RT, UK.
Barbara BurwinkelNational Center for Tumor Diseases, University of Heidelberg, 69120 Heidelberg, Germany; Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DZFK), 69047 Heidelberg, Germany.
Frederik MarmeNational Center for Tumor Diseases, University of Heidelberg, 69120 Heidelberg, Germany; Department of Obstetrics and Gynecology, University of Heidelberg, 69120 Heidelberg, Germany.
Pascal GuénelUniversity Paris-Sud, UMRS 1018, 94807 Villejuif, France; INSERM (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, 94807 Villejuif, France.
Thérèse TruongUniversity Paris-Sud, UMRS 1018, 94807 Villejuif, France; INSERM (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, 94807 Villejuif, France.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark; Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, 2730 Herlev, Denmark.
Javier BenitezHuman Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid 28029, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid 28029, Spain.
Anna González-NeiraHuman Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, CA 92697, USA.
Susan L NeuhausenBeckman Research Institute of City of Hope, Duarte, CA 91010, USA.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; Division of Preventive Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, 81675 Munich, Germany.
Rita K SchmutzlerCenter for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne 50932, Germany; Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, Cologne 50937, Germany; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne 50937, Germany.
German Consortium of Hereditary Breast and Ovarian Cancer
Norbert ArnoldDepartment of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, 24105 Kiel, Germany.
Hiltrud BrauchGerman Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, 70376 Stuttgart, Germany; University of Tübingen, 72074 Tübingen, Germany.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Sofia KhanDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, 00029 HUS, Finland.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, 00029 HUS, Finland.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Aichi 464-8681, Japan.
Keitaro MatsuoDepartment of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka 812-8582, Japan.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, 30625 Hannover, Germany.
Thilo DörkGynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
Sara MargolinDepartment of Oncology - Pathology, Karolinska Institutet, Stockholm 17177, Sweden.
kConFab/AOCS Investigators
Veli-Matti KosmaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio 70211, Finland; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio 70211, Finland; Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio 70211, Finland.
Arto MannermaaSchool of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio 70211, Finland; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio 70211, Finland; Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio 70211, Finland.
Chiu-Chen TsengDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Giuseppe FlorisUniversity Hospital Gashuisberg, 3000 Leuven, Belgium.
Diether LambrechtsVesalius Research Center (VRC), VIB, Leuven 3000, Belgium; Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven 3000, Belgium.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Paolo PeterlongoIFOM, the FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, 20139 Milan, Italy.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), 20133 Milan, Italy.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Graham G GilesCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia; Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3053, Australia.
Catriona McLeanAnatomical Pathology, The Alfred Hospital, Melbourne, VIC 3004, Australia.
Roger L MilneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia; Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3053, Australia.
Pierre-Antoine DuguéCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3053, Australia.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Gertraud MaskarinecCancer Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
Christy WoolcottDepartments of Obstetrics & Gynaecology and Pediatrics, Dalhousie University, Halifax, NS B3H 4R2, Canada.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Mark S GoldbergDepartment of Medicine, McGill University, Montreal, QC H3A 1W7, Canada; Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, QC H3H 2R9, Canada.
Jacques SimardCentre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, QC G1V 4G2, Canada.
Soo H TeoBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), 50603 Kuala Lumpur, Malaysia; Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 47500 Subang Jaya, Malaysia.
Shivaani MariapunBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), 50603 Kuala Lumpur, Malaysia; Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 47500 Subang Jaya, Malaysia.
Åslaug HellandDepartment of Oncology, Oslo University Hospital, Radiumhospitalet, 0310 Oslo, Norway.
Vilde HaakensenDepartment of Genetics, Oslo University Hospital, Radiumhospitalet, 0310 Oslo, Norway.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Alicia Beeghly-FadielDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Rulla TamimiChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA; Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Arja Jukkola-VuorinenDepartment of Oncology, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, 90014 Oulu, Finland; Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, 90220 Oulu, Finland.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada; Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 3G3, Canada.
Julia A KnightProsserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada; Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5S 3G3, Canada.
Peter DevileeDepartment of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands; Department of Pathology, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Robert A E M TollenaarDepartment of Surgical Oncology, Leiden University Medical Center, 2333 ZC Leiden, the Netherlands.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20850, USA.
Montserrat García-ClosasDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton SM2 5NG, UK; Division of Cancer Studies, Breakthrough Breast Cancer Research Centre, London SW3 6JB, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, 3008 AE Rotterdam, the Netherlands.
Madeleine Tilanus-LinthorstDepartment of Surgical Oncology, Erasmus University Medical Center, 3075 EA Rotterdam, the Netherlands.
Jingmei LiHuman Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Xuhui, Shanghai 200031, China.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.
Angela CoxSheffield Cancer Research Centre, Department of Oncology, University of Sheffield, Sheffield S10 2RX, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK.
Robert LubenClinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Kay-Tee KhawDepartment of Public Health and Primary Care, University of Cambridge, Cambridge CB2 1TN, UK.
Ji-Yeob ChoiDepartment of Biomedical Science, Seoul National University College of Medicine, Seoul 110-799, Korea; Department of Surgery, Seoul National University College of Medicine, Seoul 110-799, Korea.
Daehee KangDepartment of Biomedical Science, Seoul National University College of Medicine, Seoul 110-799, Korea; Department of Surgery, Seoul National University College of Medicine, Seoul 110-799, Korea; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul 110-799, Korea.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore and Department of Surgery, National University Health System, Singapore 117597, Singapore.
Wei Yen LimSaw Swee Hock School of Public Health, National University of Singapore and Department of Surgery, National University Health System, Singapore 117597, Singapore; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore 119228, Singapore.
Maria KabischMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota 12362, Columbia.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, 70-115 Szczecin, Poland.
James McKayInternational Agency for Research on Cancer, 69372 Lyon, CEDEX 08, France.
Suleeporn SangrajrangNational Cancer Institute, Bangkok 10400, Thailand.
Amanda E TolandDepartment of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos," Aghia Paraskevi Attikis, 153 10 Athens, Greece.
Chen-Yang ShenTaiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan; School of Public Health, China Medical University, Taichung 40402, Taiwan.
Jyh-Cherng YuDepartment of Surgery, Tri-Service General Hospital, Taipei 114, Taiwan.
Argyrios ZiogasDepartment of Epidemiology, University of California Irvine, Irvine, CA 92697, USA.
Minouk J SchoemakerDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton SM2 5NG, UK.
Anthony SwerdlowDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton SM2 5NG, UK; Division of Breast Cancer Research, Institute of Cancer Research, Sutton SM2 5NG, UK.
Anne-Lise Borresen-DaleDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0310 Oslo, Norway; Institute of Clinical Medicine, University of Oslo (UiO), Oslo 0316, Norway.
Vessela KristensenDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0310 Oslo, Norway; Institute of Clinical Medicine, University of Oslo (UiO), Oslo 0316, Norway; Department of Clinical Molecular Biology (EpiGen), University of Oslo (UiO), Oslo 0316, Norway.
Juliet D FrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Stacey L EdwardsDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Georgia Chenevix-TrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address: georgia.trench@qimr.edu.au.
University of Cambridge · GBGerman Cancer Research Center · DEKarolinska Institutet · SEOslo University Hospital · NOQIMR Berghofer Medical Research Institute · AUThe University of Melbourne · AUUniversity of Southern California · USInstitute of Cancer Research · GBThe Netherlands Cancer Institute · NLUniversitätsklinikum Erlangen · DEVanderbilt University · USLeiden University Medical Center · NLLondon School of Hygiene & Tropical Medicine · GBMayo Clinic in Florida · USMedizinische Hochschule Hannover · DEMount Sinai Hospital · CANational University of Singapore · SGPomeranian Medical University · PLSeoul National University · KRSpanish National Cancer Research Centre · ES

Funding

Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9M
POLYMORPHISMS IN GENES FOR ESTROGEN BIOACTIVATIONP01CA082267 · NCI · MAYO CLINIC COLL OF MEDICINE, ROCHESTER · PI COUCH, FERGUS JOSEPH · 2000 to 2004
$9.2M
A genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8M
Identifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4M
BRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7M
Cancer Research UK 14136Cancer Research UK 16563Cancer Research UK 16565Medical Research Council G0401527Medical Research Council G1000143NCI NIH HHS P01 CA082267NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA176785NCI NIH HHS U01 CA116167World Health Organization 001
6 · The paper itself

Abstract

Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) and ER-negative (OR = 0.87 [0.82-0.91]) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:D) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 [0.91-0.95] and OR = 1.06 [1.03-1.09]) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.13]) disease. There was weaker evidence for iCHAV4, located 5' of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chromosome conformation capture analysis showed that iCHAV2 interacts with the ZNF365 and NRBF2 (more than 600 kb away) promoters in normal and cancerous breast epithelial cells. Luciferase assays did not identify SNPs that affect transactivation of ZNF365, but identified a protective haplotype in iCHAV2, associated with silencing of the NRBF2 promoter, implicating this gene in the etiology of breast cancer.

Indexed as

Age FactorsAsian PeopleAutophagy-Related ProteinsBody Mass IndexBreast NeoplasmsChromosome MappingChromosomes, Human, Pair 10DNA-Binding ProteinsEnhancer Elements, GeneticFemaleGene Expression RegulationGenome-Wide Association StudyGenotypeHumansLuciferasesOdds RatioAutophagy-Related ProteinsDNA-Binding ProteinsLuciferasesNRBF2 protein, humanTrans-ActivatorsTranscription FactorsZNF365 protein, human

Identifiers

PMID26073781
PMCPMC4572510
OpenAlexW1860563336

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