ArticleScientific reports2016
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
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Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Functional annotation of breast cancer risk loci: current progress and future directions.British journal of cancer · 2022Review
- Common variants in breast cancer risk loci predispose to distinct tumor subtypes.Breast cancer research : BCR · 2022Article
- Impact of pre- and post-variant filtration strategies on imputation.Scientific reports · 2021Article
- Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants inCancers · 2021Article
- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.Nature communications · 2021Article
- Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.Genetic epidemiology · 2020Article
- Fine-mapping of a novel premenopausal breast cancer susceptibility locus at Chr4q31.22 in Caucasian women and validation in African and Chinese women.International journal of cancer · 2020Observational
- Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium.International journal of epidemiology · 2020Article
- Elucidation of WW domain ligand binding specificities in the Hippo pathway reveals STXBP4 as YAP inhibitor.The EMBO journal · 2020Article
- Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.Nature genetics · 2020Article
- A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.Nature genetics · 2018Article
- 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 · 2018Review
- Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.Nature communications · 2018Article
- Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses.Frontiers in genetics · 2018Review
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Authors and funding
114 authors at 20 institutions in 23 countries.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jonathan BeesleyDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Arnaud DroitDépartement de Médecine Moléculaire, Faculté de Médecine, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada.
Siddhartha KarCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Silje NordDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.
Mahdi Moradi MarjanehDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Penny SoucyGenomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Maya GhoussainiCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Hanna Fues WahlDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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.
M Rosario AlonsoHuman Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, Madrid, Spain.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, CA, USA.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Matthias W BeckmannDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Javier BenitezHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Thomas BrüningInstitute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany.
Barbara BurwinkelDepartment of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
Don M ConroyCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Angela CoxSheffield Cancer Research, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Peter A FaschingDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Jonine FigueroaUsher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK.
Olivia FletcherBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Eva GalleVesalius Research Center, Leuven, Belgium.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Graham G GilesCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.
Mark S GoldbergDepartment of Medicine, McGill University, Montreal, Canada.
Anna González-NeiraHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
Pascal GuénelCancer &Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Emily HallbergDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Antoinette HollestelleDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Nichola JohnsonBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Daehee KangDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
Sofia KhanDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Veli-Matti KosmaCancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.
Mieke KriegeDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Vessela KristensenDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.
Diether LambrechtsVesalius Research Center, Leuven, Belgium.
Loic Le MarchandUniversity of Hawaii Cancer Center, Honolulu, HI, USA.
Soo Chin LeeDepartment of Hematology-Oncology, National University Health System, Singapore, Singapore.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Arto MannermaaCancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.
Siranoush ManoukianUnit 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), Milan, Italy.
Sara MargolinDepartment of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.
Keitaro MatsuoDivision of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan.
Rebecca MayesCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
James McKayInternational Agency for Research on Cancer, Lyon, France.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
Roger L MilneCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Curtis OlswoldDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Nick OrrBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Paolo PeterlongoIFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
Guillermo PitaHuman Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, Madrid, Spain.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Suleeporn SangrajrangNational Cancer Institute, Bangkok, Thailand.
Elinor J SawyerResearch Oncology, Guy's Hospital, King's College London, London, UK.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Rita K SchmutzlerCenter for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
Caroline SeynaeveDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Chen-Yang ShenInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Melissa C SoutheyDepartment of Pathology, The University of Melbourne, Melbourne, Australia.
Daniel O StramDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Harald SurowyDepartment of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Anthony SwerdlowDivision of Breast Cancer Research, The Institute of Cancer Research, London, UK.
Soo H TeoCancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.
Daniel C TessierMcGill University and Génome Québec Innovation Centre, Montréal, Canada.
Ian TomlinsonWellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thérèse TruongCancer &Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Celine M VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Daniel VincentMcGill University and Génome Québec Innovation Centre, Montréal, Canada.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Pei-Ei WuTaiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Cheng Har YipBreast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Stacey L EdwardsDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada.
Juliet D FrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Georgia Chenevix-TrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
University of Cambridge · GBGerman Cancer Research Center · DEKarolinska Institutet · SEQIMR Berghofer Medical Research Institute · AUInstitute of Cancer Research · GBSpanish National Cancer Research Centre · ESThe University of Melbourne · AUCentre hospitalier universitaire de Québec · CAErasmus MC Cancer Institute · NLMayo Clinic in Florida · USUniversity of Southern California · USAichi Cancer Center · JPInserm · FRInstitute of Biomedical Sciences, Academia Sinica · TWKU Leuven · BEMcGill University and Génome Québec Innovation Centre · CAMedizinische Hochschule Hannover · DENational Cancer Institute · USNational University of Singapore · SGNordLab · FI
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8MHormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5MSouthern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9MCALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MMultiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2MBreast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7MCharacterizing Genetic Susceptibility to Breast and Prostate Cancer; the BPC3U01CA098758 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2003 to 2010
$11.0MEpidemiologic 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
$10.2MCancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16459Cancer Research UK 16561Cancer Research UK 16565Cancer Research UK C12292/A11174Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A 10710Cancer Research UK C1287/A12014Cancer Research UK C490/A10124Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C8197/A16565NCI NIH HHS N01 CN025403NCI NIH HHS P30 CA068485NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA116167NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA182910World Health Organization 001
Abstract
Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.
Indexed as
Genetic Predisposition to DiseaseBreast NeoplasmsChromosome MappingChromosomes, Human, Pair 17FemaleGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideQuantitative Trait LociVesicular Transport ProteinsWhite PeopleSTXBP4 protein, humanVesicular Transport Proteins
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