Evidence map›Paper›PMID 27459855›Full record

ArticleBreast cancer research : BCR2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.

Chenjie Zeng, Xingyi Guo, Jirong Long, Karoline B Kuchenbaecker, Arnaud Droit, Kyriaki Michailidou, Maya Ghoussaini, Siddhartha Kar, Adam Freeman, John L Hopper and 232 more

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

Article in Breast cancer research : BCR, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.3field-weighted citation impact, top 12% 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

25 citing papers in PubMed, 75 citations in OpenAlex.

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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

242 authors at 20 institutions in 36 countries.

Chenjie ZengDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Xingyi GuoDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Karoline B KuchenbaeckerCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Arnaud DroitProteomics Center, CHU de Québec Research Center and Department of Molecular Medicine, Laval University, Quebec, 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, CB1 8RN, UK.
Siddhartha KarCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK.
Adam FreemanDepartment of Surgery, St Vincent's Hospital, Melbourne, VIC, Australia.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia.
Roger L MilneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia.
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.
Simona AgataImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico), Padua, Italy.
Shahana AhmedCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Kristiina AittomäkiDepartment of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, CA, USA.
Natalia N AntonenkovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Adalgeir ArasonDepartment of Pathology, Landspitali University Hospital and BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Banu K ArunUniversity of Texas MD Anderson Cancer Center, Houston, TX, USA.
Brita ArverDepartment of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Francois BacotMcGill University and Génome Québec Innovation Centre, Montréal, Canada.
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Caroline BaynesCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Alicia Beeghly-FadielDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Javier BenitezHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
Marina BermishevaInstitute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia.
Carl BlomqvistDepartment of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
William J BlotDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Anne-Lise Borresen-DaleDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.
Judith S BrandDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Paul BrennanInternational Agency for Research on Cancer, Lyon, France.
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.
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Trinidad CaldesMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Ian CampbellCancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Australia.
Jane CarpenterAustralian Breast Cancer Tissue Bank, Westmead Millennium Institute, University of Sydney, Sydney, Australia.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ji-Yeob ChoiDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Kathleen B M ClaesCenter for Medical Genetics, Ghent University, Ghent, Belgium.
Christine ClarkeWestmead Millenium Institute for Medical Research, University of Sydney, Sydney, Australia.
Angela CoxSheffield Cancer Research, Department of Oncology, 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.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.
Miguel de la HoyaMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Kim De LeeneerCenter for Medical Genetics, Ghent University, Ghent, Belgium.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Orland DiezOncogenetics Group, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autònoma de Barcelona, Barcelona, Spain.
Susan M DomchekDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Michele DoodyDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Cecilia M DorflingDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
Thilo DörkClinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
Isabel Dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Martine DumontGenomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada.
Miriam DwekDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
Bernd DworniczakInstitute of Human Genetics, Muenster, Germany.
Kathleen EganDivision of Population Sciences, Moffitt Cancer Center & Research Institute, Tampa, FL, USA.
Ursula EilberDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Zakaria EinbeigiDepartment of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Bent EjlertsenDepartment of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Steve EllisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Fiona LallooGenetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
EMBRACE
Peter A FaschingDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Michael FriedlanderANZ GOTG Coordinating Centre, Australia New Zealand GOG, Camperdown, NSW, Australia.
Eitan FriedmanSusanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel.
Gaetana GambinoSection of Genetic Oncology, Deparment of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, USA.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Andrea GehrigInstitute of Human Genetics, University Würzburg, Wurzburg, Germany.
Francesca DamiolaINSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Fabienne LesueurGenetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, 75248, Paris, France.
Sylvie MazoyerINSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Dominique Stoppa-LyonnetDepartment of Tumour Biology, Institut Curie, Paris, France.
behalf of GEMO Study Collaborators
Graham G GilesCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
Anna González-NeiraHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
Mark H GreeneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
Pascal GuénelEnvironmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
Lothar HaeberleDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
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.
Thomas V O HansenCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Steven HartDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Jaana M HartikainenCancer Center, Kuopio University Hospital, Kuopio, Finland.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Norhashimah HassanCancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.
Sue HealeyCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Frans B L HogervorstFamily Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Senno VerhoefFamily Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
HEBON
Carolyn B HendricksSuburban Hospital, Bethesda, MD, USA.
Peter HillemannsClinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
Antoinette HollestelleDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.
David J HunterProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA, USA.
Evgeny N ImyanitovN.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Aichi, Japan.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Ramunas JanaviciusState Research Institute Centre for Innovative Medicine, Vilnius, Lithuania.
Katarzyna Jaworska-BieniekDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Uffe Birk JensenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, N, Denmark.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, Fremont, CA, USA.
Charles Joly BeauparlantGenomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, QC, Canada.
Michael JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Maria KabischMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Daehee KangDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Saila KauppilaDepartment of Pathology, Oulu University Hospital, University of Oulu, Oulu, Finland.
Michael J KerinSchool of Medicine, National University of Ireland, Galway, Ireland.
Sofia KhanDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Elza KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia.
Julia A KnightProsserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.
Irene KonstantopoulouMolecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Athens, Greece.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, MA, USA.
Ava KwongThe Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong, China.
Yael LaitmanSusanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel.
Diether LambrechtsVesalius Research Center, Leuven, Belgium.
Conxi LazaroMolecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.
Loic Le MarchandUniversity of Hawaii Cancer Center, Honolulu, HI, USA.
Chuen Neng LeeSaw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Min Hyuk LeeDepartment of Surgery, Soonchunhyang University and Hospital, Seoul, South Korea.
Jenny LesterWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Jingmei LiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Annelie LiljegrenDepartment of Oncology, Karolinska University Hospital, Stockholm, Sweden.
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.
Phuong L MaiClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
Arto MannermaaCancer Center, Kuopio University Hospital, Kuopio, Finland.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy.
Sara MargolinDepartment of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.
Frederik MarmeDepartment of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Keitaro MatsuoDepartment of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
Florence MenegauxEnvironmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
Marco MontagnaImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico), Padua, Italy.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Anna Marie MulliganLaboratory Medicine Program, University Health Network, Toronto, ON, Canada.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Susan L NeuhausenBeckman Research Institute of City of Hope, Duarte, CA, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Polly A NewcombCarbone Cancer Center, University of Wisconsin, Madison, WI, USA.
Silje NordDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.
Robert L NussbaumDepartment of Medicine and Genetics, University of California, San Francisco, San Francisco, CA, USA.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, IL, USA.
Curtis OlswoldDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Ana OsorioHuman Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Laura PapiUnit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
Tjoung-Won Park-SimonClinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
Ylva Paulsson-KarlssonDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Stephanie PeetersUniversity Hospital Gashuisberg, Leuven, Belgium.
Bernard PeisselUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy.
Paolo PeterlongoIFOM, Fondazione Istituto FIRC (Italian Foundation of Cancer Research) di Oncologia Molecolare, Milan, Italy.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Georg PfeilerDepartment of Obstetrics and Gynecology, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Catherine M PhelanDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
Nadege PresneauDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
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 Tumori (INT), Milan, Italy.
Nazneen RahmanSection of Cancer Genetics, The Institute of Cancer Research, London, UK.
Susan J RamusDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
Muhammad Usman RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Gad RennertClalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, Haifa, Israel.
Kerstin RhiemCentre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Cologne, Germany.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ritu SalaniObstetrics and Gynecology, Ohio State University College of Medicine, Columbus, OH, USA.
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 SchmutzlerDivision of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, Cologne, Germany.
Minouk J SchoemakerDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Peter SchürmannClinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
Caroline SeynaeveDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Chen-Yang ShenSchool of Public Health, China Medical University, Taichung, Taiwan.
Martha J ShrubsoleDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA.
Alice SigurdsonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Christian F SingerDepartment of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Susan SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Penny SoucyCentre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, QC, Canada.
Melissa SoutheyGenetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC, Australia.
Doris SteinemannHannover Medical School, Hannover, Germany.
Anthony SwerdlowDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Csilla I SzaboNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Sandrine TchatchouLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Soo H TeoCancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
Daniel C TessierMcGill University and Génome Québec Innovation Centre, Montréal, Canada.
Alex TeuléGenetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odense, C, Denmark.
Laima TihomirovaLatvian Biomedical Research and Study Centre, Riga, Latvia.
Marc TischkowitzProgram in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC, Canada.
Amanda E TolandDepartment of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Clare TurnbullSection of Cancer Genetics, The Institute of Cancer Research, London, UK.
Ans M W van den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
David Ven den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Joseph VijaiClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Shan Wang-GohrkeDepartment of Obstetrics and Gynecology, University of Ulm, Ulm, Germany.
Jeffrey N WeitzelClinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA, USA.
Alice S WhittemoreDepartment of Health Research and Policy - Epidemiology, Stanford University School of Medicine, Stanford, CA, USA.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu, Finland.
Tien Y WongSingapore Eye Research Institute, National University of Singapore, Singapore, Singapore.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Drakoulis YannoukakosDepartment of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece.
Jyh-Cherng YuDepartment of Surgery, National Taiwan University Hospital, Taipei, Taiwan.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Georgia Chenevix-TrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
KConFab
AOCS Investigators
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Antonis C AntoniouCentre 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.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN, 37203-1738, USA. wei.zheng@vanderbilt.edu.
University of Cambridge · GBGerman Cancer Research Center · DEInstitute of Cancer Research · GBVanderbilt University · USUniversity of Southern California · USThe University of Melbourne · AUUniversity of Helsinki · FIMedizinische Hochschule Hannover · DEMount Sinai Hospital · CANational Institutes of Health · USNational University of Singapore · SGCedars-Sinai Medical Center · USCentre hospitalier universitaire de Québec · CAInserm · FRKarolinska Institutet · SEOslo University Hospital · NORussian Academy of Sciences · RUThe University of Sydney · AUUniversité Claude Bernard Lyon 1 · FRGhent University Hospital · BE

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
NRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8M
USC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fumito Ito · 1985 to 2026
$181.4M
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8M
Statistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI James J. Dignam · 2014 to 2026
$146.4M
NRG Oncology NCORP Research Base-BIQSFPUG1CA189867 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI Deborah Watkins Bruner, Lisa A. Kachnic · 2014 to 2026
$140.5M
WORD PROCESSING CENTER--COREP30CA006927 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI Margaret von Mehren · 1985 to 2026
$138.8M
GYNECOLOGIC ONCOLOGY GROUP HEADQUARTERSU10CA027469 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 1985 to 2013
$132.6M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8M
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0M
Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI STEPHEN W BYERS · 1990 to 2026
$71.5M
GYNECOLOGIC ONCOLOGY GROUP STATISTICAL OFFICEU10CA037517 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI BLESSING, JOHN A · 1985 to 2013
$67.4M
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 11174Cancer Research UK 15106Cancer Research UK 16561Cancer Research UK 16565Cancer Research UK 20861Medical Research Council G0700491NCATS NIH HHS UL1 TR000124NCI NIH HHS K07 CA092044NCI NIH HHS N01 CN025403NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA014089NCI NIH HHS P30 CA051008NCI NIH HHS P30 CA068485NCI NIH HHS P30 CA168524NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA047147NCI NIH HHS R01 CA047305NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA069664NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA083855NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA102776NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA140323NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA149429NCI NIH HHS R01 CA176785NCI NIH HHS R03 CA173531NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS RC4 CA153828NCI NIH HHS U01 CA058860NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA113916NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA161032NCI NIH HHS U10 CA027469NCI NIH HHS U10 CA037517NCI NIH HHS U10 CA101165NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UM1 CA164920Wellcome TrustWorld Health Organization 001
6 · The paper itself

Abstract

backgroundMultiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk.

methodWe performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation.

resultsAnalysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05.

conclusionThis study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk.

Indexed as

Chromosome MappingChromosomes, Human, Pair 12Genetic Predisposition to DiseaseGenome-Wide Association StudyAllelesBRCA1 ProteinBreast NeoplasmsCase-Control StudiesComputational BiologyDatabases, GeneticEnhancer Elements, GeneticEpigenesis, GeneticFemaleGenotypeHaplotypesHeterozygoteBRCA1 ProteinBRAC1 mutation carriersBreast cancerCCDC91Fine-scale mappingGenetic risk factorPTHLH

Identifiers

PMID27459855
PMCPMC4962376
OpenAlexW2465730694

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