Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

. 2016 Sep 07 ; 7 () : 12675. [epub] 20160907

Jazyk angličtina Země Anglie, Velká Británie Médium electronic

Typ dokumentu adaptivní klinické zkoušky, časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/pmid27601076

Grantová podpora
R01 CA140323 NCI NIH HHS - United States
U01 CA116167 NCI NIH HHS - United States
U19 CA148112 NCI NIH HHS - United States
U10 CA180868 NCI NIH HHS - United States
U01 CA069417 NCI NIH HHS - United States
R01 CA050385 NCI NIH HHS - United States
G0501974 Medical Research Council - United Kingdom
UG1 CA189867 NCI NIH HHS - United States
R01 CA176785 NCI NIH HHS - United States
N01 PC067010 NCI NIH HHS - United States
RC4 CA153828 NCI NIH HHS - United States
P30 CA016056 NCI NIH HHS - United States
R01 CA087538 NCI NIH HHS - United States
U10 CA101165 NCI NIH HHS - United States
R01 CA142996 NCI NIH HHS - United States
R01 CA136924 NCI NIH HHS - United States
P50 CA125183 NCI NIH HHS - United States
UM1 CA164920 NCI NIH HHS - United States
R01 CA106414 NCI NIH HHS - United States
11174 Cancer Research UK - United Kingdom
R01 CA067262 NCI NIH HHS - United States
P30 CA046592 NCI NIH HHS - United States
UL1 TR001863 NCATS NIH HHS - United States
P30 CA168524 NCI NIH HHS - United States
U01 CA161032 NCI NIH HHS - United States
R37 CA070867 NCI NIH HHS - United States
K99 CA184415 NCI NIH HHS - United States
R03 CA113148 NCI NIH HHS - United States
16565 Cancer Research UK - United Kingdom
R01 CA058598 NCI NIH HHS - United States
R01 CA092447 NCI NIH HHS - United States
K22 CA138563 NCI NIH HHS - United States
R01 CA058860 NCI NIH HHS - United States
R01 CA080742 NCI NIH HHS - United States
20861 Cancer Research UK - United Kingdom
U10 CA027469 NCI NIH HHS - United States
16459 Cancer Research UK - United Kingdom
R01 CA074850 NCI NIH HHS - United States
R01 CA063678 NCI NIH HHS - United States
UL1 TR000124 NCATS NIH HHS - United States
K07 CA092044 NCI NIH HHS - United States
R00 CA184415 NCI NIH HHS - United States
P50 CA105009 NCI NIH HHS - United States
R01 CA100374 NCI NIH HHS - United States
P30 CA008748 NCI NIH HHS - United States
R01 CA128978 NCI NIH HHS - United States
N02 CP011019 NCI NIH HHS - United States
N02 CP065504 NCI NIH HHS - United States
R01 CA083855 NCI NIH HHS - United States
P30 CA076292 NCI NIH HHS - United States
R01 CA064277 NCI NIH HHS - United States
P30 CA014089 NCI NIH HHS - United States
U19 CA148537 NCI NIH HHS - United States
P30 CA051008 NCI NIH HHS - United States
R01 CA116167 NCI NIH HHS - United States
R01 CA148667 NCI NIH HHS - United States
R01 CA083918 NCI NIH HHS - United States
P50 CA116201 NCI NIH HHS - United States
U01 CA113916 NCI NIH HHS - United States
R03 CA115195 NCI NIH HHS - United States
U10 CA037517 NCI NIH HHS - United States
R01 CA054419 NCI NIH HHS - United States
R01 CA122443 NCI NIH HHS - United States
P30 CA015083 NCI NIH HHS - United States
R01 CA076016 NCI NIH HHS - United States
R01 CA077398 NCI NIH HHS - United States
K07 CA143047 NCI NIH HHS - United States
P30 CA068485 NCI NIH HHS - United States
R01 CA087696 NCI NIH HHS - United States
R01 CA102776 NCI NIH HHS - United States
R01 CA149429 NCI NIH HHS - United States
P01 CA017054 NCI NIH HHS - United States
N01 CN025403 NCI NIH HHS - United States
U19 CA148065 NCI NIH HHS - United States
10119 Cancer Research UK - United Kingdom
Wellcome Trust - United Kingdom
R01 CA049449 NCI NIH HHS - United States
R01 CA063682 NCI NIH HHS - United States
UM1 CA182910 NCI NIH HHS - United States
K07 CA095666 NCI NIH HHS - United States
10118 Cancer Research UK - United Kingdom
R01 CA112523 NCI NIH HHS - United States
P30 CA006927 NCI NIH HHS - United States
P50 CA136393 NCI NIH HHS - United States
U10 CA180822 NCI NIH HHS - United States
001 World Health Organization - International
R01 CA126841 NCI NIH HHS - United States
R01 CA114343 NCI NIH HHS - United States
16561 Cancer Research UK - United Kingdom
10124 Cancer Research UK - United Kingdom
N01 PC035137 NCI NIH HHS - United States

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.

Academic Unit of Pathology Department of Neuroscience University of Sheffield Sheffield S10 2TN UK

Anatomical Pathology The Alfred Hospital Melbourne Victoria 3004 Australia

Biomedical Network on Rare Diseases 28029 Madrid Spain

Biomedical Sciences Institute Porto University Porto 4099 002 Portugal

Biostatistics and Informatics Shared Resource University of Kansas Medical Center Kansas City Kansas 66160 USA

Breakthrough Breast Cancer Research Centre The Institute of Cancer Research London SW3 6JB UK

Breast Cancer Research Unit Cancer Research Institute University Malaya Medical Centre 50603 Kuala Lumpur Malaysia

Cancer Center Kuopio University Hospital 70210 Kuopio Finland

Cancer Control and Population Sciences Duke Cancer Institute Durham North Carolina 27710 USA

Cancer Epidemiology Centre Cancer Council Victoria Melbourne Victoria 3004 Australia

Cancer Epidemiology Program Division of Population Sciences H Lee Moffitt Cancer Center and Research Institute Tampa Florida 33612 USA

Cancer Genetics Laboratory Peter MacCallum Cancer Centre Melbourne Victoria 3002 Australia

Cancer Pathology and Prevention Division of Cancer Prevention and Population Sciences Roswell Park Cancer Institute Elm and Carlton Streets Buffalo 14263 New York USA

Cancer Prevention and Control Rutgers Cancer Institute of New Jersey New Brunswick New Jersey 08903 USA

Cancer Prevention and Control Samuel Oschin Comprehensive Cancer Institute Cedars Sinai Medical Center Los Angeles California 90048 USA

Cancer Research Initiatives Foundation Sime Darby Medical Centre 47500 Subang Jaya Malaysia

Cancer Research Initiatives Foundation Subang Jaya 47500 Selangor Malaysia

Cancer Research Institute Seoul National University Seoul 08826 Korea

Cancer Research UK Clinical Trials Unit The Beatson West of Scotland Cancer Centre Glasgow G12 0YN UK

Cancer Risk and Prevention Clinic Dana Farber Cancer Institute Boston Massachusetts 02215 USA

Center for Clinical Cancer Genetics and Global Health University of Chicago Medical Center Chicago Illinois 60637 USA

Center for Genomic Medicine Rigshospitalet Copenhagen University Hospital 2100 Copenhagen Denmark

Center for Integrated Oncology University Hospital of Cologne 50676 Cologne Germany

Center for Medical Genetics Ghent University Ghent 9000 Belgium

Center for Medical Genetics NorthShore University Health System Evanston Illinois 60201 USA

Center for Molecular Medicine University Hospital of Cologne 50676 Cologne Germany

Center of Familial Breast and Ovarian Cancer University Hospital of Cologne 50676 Cologne Germany

Centre for Cancer Biomarkers Department of Clinical Science University of Bergen N 5020 Bergen Norway

Centre for Epidemiology and Biostatistics Melbourne School of Population and Global Health The University of Melbourne Melbourne Victoria 3010 Australia

Centre for Epidemiology and Biostatistics University of Melbourne Melbourne Victoria 3010 Australia

Centre of Familial Breast and Ovarian Cancer Department of Gynaecology and Obstetrics and Centre for Integrated Oncology University Hospital of Cologne 50931 Cologne Germany

Centro de Investigación en Red de Enfermedades Raras Valencia 28029 Spain

Channing Division of Network Medicine Brigham and Women's Hospital and Harvard Medical School Boston Massachusetts 02115 USA

Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology Carmel Medical Center and B Rappaport Faculty of Medicine Haifa 34362 Israel

Clinical Cancer Genetics for the City of Hope Clinical Cancer Genetics Community Research Network Duarte California 91010 USA

Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Rockville Maryland 20892 USA

Community and Population Health Research Institute Department of Biomedical Sciences Cedars Sinai Medical Center Los Angeles California 90048 USA

Copenhagen General Population Study Herlev Hospital Copenhagen University Hospital Herlev 2730 Denmark

Department of Basic Sciences Shaukat Khanum Memorial Cancer Hospital and Research Centre Lahore 54000 Pakistan

Department of Biomedical Sciences Seoul National University College of Medicine Seoul 03080 Korea

Department of Breast Surgery Herlev Hospital Copenhagen University Hospital 2730 Herlev Denmark

Department of Cancer Epidemiology Clinical Cancer Registry University Medical Center Hamburg Eppendorf Hamburg 20246 Germany

Department of Cancer Epidemiology Moffitt Cancer Center Tampa Florida 33606 USA

Department of Cancer Prevention and Control Roswell Park Cancer Institute Buffalo New York 14263 USA

Department of Chronic Disease Epidemiology Yale School of Public Health New Haven Connecticut 06510 USA

Department of Clinical Biochemistry Herlev Hospital Copenhagen University Hospital Herlev 2730 Denmark

Department of Clinical Genetics Erasmus University Medical Center 3015 CE Rotterdam The Netherlands

Department of Clinical Genetics Fox Chase Cancer Center Philadelphia Pennsylvania 19111 USA

Department of Clinical Genetics Helsinki University Hospital University of Helsinki Helsinki 00029 HUS Finland

Department of Clinical Genetics Karolinska University Hospital 171 76 Stockholm Sweden

Department of Clinical Genetics Lund University Hospital Lund 221 00 Sweden

Department of Clinical Genetics Odense University Hospital 5000 Odense C Denmark

Department of Clinical Genetics Vejle Hospital Vejle 7100 Denmark

Department of Clinical Molecular Biology Oslo University Hospital University of Oslo 1478 Oslo Norway

Department of Community and Family Medicine Duke University Medical Center Durham North Carolina 27710 USA

Department of Community and Family Medicine Section of Biostatistics and Epidemiology The Geisel School of Medicine at Dartmouth Lebanon New Hampshire 03755 USA

Department of Dermatology Huntsman Cancer Institute University of Utah School of Medicine Salt Lake City Utah 84132 USA

Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York 10017 USA

Department of Epidemiology Cancer Prevention Institute of California Fremont California 94538 USA

Department of Epidemiology Genetic Epidemiology Research Institute School of Medicine University of California Irvine Irvine California 92697 USA

Department of Epidemiology Harvard TH Chan School of Public Health Boston Massachusetts 02115 USA

Department of Epidemiology Mailman School of Public Health Columbia University New York 10027 USA

Department of Epidemiology University of Washington Seattle Washington 98109 USA

Department of Genetics and Pathology Pomeranian Medical University 70 204 Szczecin Poland

Department of Genetics and Pathology Pomeranian Medical University Szczecin 70 115 Poland

Department of Genetics Institute for Cancer Research Oslo University Hospital Radiumhospitalet Oslo N 0310 Norway

Department of Genetics Portuguese Oncology Institute Porto 4200 072 Portugal

Department of Genetics University of Pretoria Pretoria 0083 South Africa

Department of Gynaecology Radboud University Medical Centre 6500 Nijmegen The Netherlands

Department of Gynecologic Oncology The University of Texas MD Anderson Cancer Center Houston Texas 77030 USA

Department of Gynecological Oncology Roswell Park Cancer Institute Buffalo New York 14263 USA

Department of Gynecology and Gynecologic Oncology Dr Horst Schmidt Kliniken Wiesbaden 65199 Wiesbaden Germany

Department of Gynecology and Gynecologic Oncology Kliniken Essen Mitte 45136 Essen Germany

Department of Gynecology and Obstetrics Haukeland University Hospital 5021 Bergen Norway

Department of Gynecology Family Cancer Clinic Erasmus MC Cancer Institute 3015 CE Rotterdam The Netherlands

Department of Gynecology Rigshospitalet University of Copenhagen 2100 Copenhagen Denmark

Department of Health Research and Policy Epidemiology Stanford University School of Medicine Stanford California 94305 USA

Department of Health Sciences Research Mayo Clinic Rochester Minnesota 55902 USA

Department of Human Genetics Leiden University Medical Center Leiden 2333 The Netherlands

Department of Human Genetics Radboud University Medical Centre 6500 Nijmegen The Netherlands

Department of Immunology Genetics and Pathology Uppsala University Uppsala 751 05 Sweden

Department of Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario M5G 1L7 Canada

Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota 55905 USA

Department of Medical Epidemiology and Biostatistics Karolinska Institutet Stockholm SE 171 77 Sweden

Department of Medical Oncology Beth Israel Deaconess Medical Center Boston Massachusetts 02215 USA

Department of Medical Oncology Family Cancer Clinic Erasmus MC Cancer Institute 3015 Rotterdam The Netherlands

Department of Medical Oncology The Center for Functional Cancer Epigenetics Dana Farber Cancer Institute Boston Massachusetts 02215 USA

Department of Medicine Abramson Cancer Center Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania 19104 USA

Department of Medicine and Genetics University of California San Francisco California 94143 USA

Department of Medicine Huntsman Cancer Institute University of Utah School of Medicine Salt Lake City Utah 84112 USA

Department of Medicine McGill University Montreal Québec H3A 1A1 Canada

Department of Medicine Memorial Sloan Kettering Cancer Center New York 10065 USA

Department of Molecular Genetics National Institute of Oncology 1122 Budapest Hungary

Department of Molecular Genetics University of Toronto Toronto Ontario M5S 1A8 Canada

Department of Molecular Medicine and Surgery Karolinska Institutet SE 171 77 Stockholm Sweden

Department of Molecular Virology Immunology and Medical Genetics The Ohio State University Columbus Ohio 43210 USA

Department of Obstetrics and Gynecology Comprehensive Cancer Center Medical University of Vienna 1090 Vienna Austria

Department of Obstetrics and Gynecology Duke University Medical Center Durham North Carolina 27710 USA

Department of Obstetrics and Gynecology Oregon Health and Science University Portland Oregon 97239 USA

Department of Obstetrics and Gynecology University of Heidelberg Heidelberg 69120 Germany

Department of Obstetrics and Gynecology University of Helsinki and Helsinki University Central Hospital Helsinki 00029 HUS Finland

Department of Oncology Centre for Cancer Genetic Epidemiology University of Cambridge Cambridge CB1 8RN UK

Department of Oncology Department of Public Health and Primary Care University of Cambridge Strangeways Research Laboratory Cambridge CB1 8RN UK

Department of Oncology Helsinki University Hospital University of Helsinki Helsinki FIN 00029 Finland

Department of Oncology Karolinska University Hospital Stockholm 171 77 Sweden

Department of Oncology Pathology Karolinska Institutet SE 171 77 Stockholm Sweden

Department of Oncology Rigshospitalet Copenhagen University Hospital 2100 Copenhagen Denmark

Department of Pathology and Laboratory Diagnostics the Maria Sklodowska Curie Memorial Cancer Center and Institute of Oncology Warsaw 44 101 Poland

Department of Pathology and Laboratory Medicine University of Kansas Medical Center Kansas City Kansas 66160 USA

Department of Pathology Helsinki University Central Hospital Helsinki 00029 Finland

Department of Pathology Landspitali University Hospital and BMC Faculty of Medicine University of Iceland Reykjavik 600169 2039 Iceland

Department of Pathology Leiden University Medical Center Leiden 2333 The Netherlands

Department of Pathology University of Melbourne Parkville Victoria 3010 Australia

Department of Population Sciences Beckman Research Institute of City of Hope Duarte California 91010 USA

Department of Preventive Medicine Keck School of Medicine University of Southern California Norris Comprehensive Cancer Center Los Angeles California 90033 USA

Department of Preventive Medicine Kyushu University Faculty of Medical Sciences Fukuoka 812 8582 Japan

Department of Preventive Medicine Seoul National University College of Medicine Seoul 08826 Korea

Department of Public Health and Primary Care Centre for Cancer Genetic Epidemiology University of Cambridge Cambridge CB1 8RN UK

Department of Surgery National University Health System Singapore 119077 Singapore

Department of Surgery Seoul National University College of Medicine Seoul 03080 Korea

Department of Surgery The University of Hong Kong Hong Kong China

Department of Surgery Tri Service General Hospital National Defense Medical Center Taipei 114 Taiwan

Department of Virus Lifestyle and Genes Danish Cancer Society Research Center DK 2100 Copenhagen Denmark

Division of Breast Cancer Research The Institute of Cancer Research London SW7 3RP UK

Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda Maryland 20892 USA

Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville Maryland 20892 USA

Division of Cancer Epidemiology German Cancer Research Center Heidelberg 69121 Germany

Division of Cancer Prevention and Genetics Istituto Europeo di Oncologia Milan 20141 Italy

Division of Clinical Epidemiology and Aging Research German Cancer Research Center Heidelberg 69120 Germany

Division of Clinical Epidemiology Royal Victoria Hospital McGill University Montreal Québec H3A 1A1 Canada

Division of Clinical Genetics Department of Clinical and Experimental Medicine Linköping University 581 83 Linköping Sweden

Division of Epidemiology and Biostatistics Department of Internal Medicine University of New Mexico Albuquerque New Mexico 87131 USA

Division of Epidemiology and Prevention Aichi Cancer Center Research Institute Aichi 464 8681 Japan

Division of Epidemiology Dalla Lana School of Public Health University of Toronto Toronto Ontario M5T 3M7 Canada

Division of Epidemiology Department of Medicine Vanderbilt Ingram Cancer Center Vanderbilt University School of Medicine Nashville Tennessee 37203 USA

Division of Genetics and Epidemiology The Institute of Cancer Research London SW7 3RP UK

Division of Gynaecology and Obstetrics Technische Universität München 81675 Munich Germany

Division of Gynecologic Oncology NorthShore University HealthSystem Evanston Illinois 60201 USA

Division of Gynecological Oncology Department of Oncology University Hospitals Leuven B 3000 Leuven Belgium

Division of Health Sciences Warwick Medical School Warwick University Coventry CV4 7AL UK

Division of Molecular Gyneco Oncology Department of Gynaecology and Obstetrics University Hospital of Cologne 50676 Cologne Germany

Division of Preventive Oncology German Cancer Research Center Heidelberg 69121 Germany

Dr Margarete Fischer Bosch Institute of Clinical Pharmacology Stuttgart D 70376 Germany

Environmental Epidemiology of Cancer Center for Research in Epidemiology and Population Health INSERM 94805 Villejuif France

Faculty of Health and Medical Sciences University of Copenhagen Copenhagen 2200 Denmark

Family Cancer Clinic Netherlands Cancer Institute 1006 Amsterdam The Netherlands

Genetic Counseling Unit Hereditary Cancer Program IDIBGI Catalan Institute of Oncology Girona 08908 Spain

Genomic Medicine Manchester Academic Health Sciences Centre Institute of Human Development Manchester University Central Manchester University Hospitals NHS Foundation Trust Manchester M13 9PL UK

Genomics Center Centre Hospitalier Universitaire de Québec Research Center Laval University Québec City Québec G1V 4G2 Canada

German Cancer Consortium Heidelberg 69120 Germany

Gynaecology Research Unit Hannover Medical School Hannover D 30625 Germany

Gynecology Service Department of Surgery Memorial Sloan Kettering Cancer Center New York 10065 USA

Harvard HT Chan School of Public Health Boston Massachusetts 02115 USA

Human Cancer Genetics Program Spanish National Cancer Research Centre Madrid E 28029 Spain

Human Genetics Group Human Cancer Genetics Program Spanish National Cancer Centre 28019 Madrid Spain

IFOM The FIRC Institute of Molecular Oncology 16 20139 Milan Italy

Imaging Center Department of Clinical Pathology Kuopio University Hospital 70210 Kuopio Finland

Immunology and Molecular Oncology Unit Instituto Oncologico Veneto IOV IRCCS 35128 Padua Italy

Immunology and Molecular Oncology Unit Istituto Oncologico Veneto IOV IRCCS 64 35128 Padua Italy

INSERM U1052 CNRS UMR5286 Université Lyon 1 Centre de Recherche en Cancérologie de Lyon Lyon 69003 France

INSERM U1052 CNRS UMR5286 Université Lyon Centre de Recherche en Cancérologie de Lyon Lyon 69373 France

Institut Curie Department of Tumour Biology Paris France; Institut Curie INSERM U830 75248 Paris France

Institute for Medical Biometrics and Epidemiology University Medical Center Hamburg Eppendorf Hamburg 20246 Germany

Institute for Medical Informatics Statistics and Epidemiology University of Leipzig 04107 Leipzig Germany

Institute of Cancer Sciences University of Glasgow Wolfson Wohl Cancer Research Centre Beatson Institute for Cancer Research Glasgow G61 1BD UK

Institute of Clinical Medicine Pathology and Forensic Medicine University of Eastern Finland 70210 Kuopio Finland

Institute of Human Genetics Department of Human Genetics University Hospital Heidelberg 69120 Heidelberg Germany

Institute of Human Genetics Pontificia Universidad Javeriana Cra 7 40 62 Bogota Colombia

Institute of Population Health University of Manchester Manchester M13 9PL UK

International Agency for Research on Cancer Lyon 69008 France

International Epidemiology Institute Rockville Maryland 20850 USA

K G Jebsen Center for Breast Cancer Research Institute of Clinical Medicine Faculty of Medicine University of Oslo Oslo N 0310 Norway

Knight Cancer Institute Oregon Health and Science University Portland Oregon 97239 USA

Laboratory for Translational Genetics Department of Oncology University of Leuven 3000 Leuven Belgium

Laboratory Medicine Program University Health Network Toronto Ontario M5G 1L7 Canada

Laboratory of Cancer Genetics and Tumour Biology Department of Clinical Chemistry and Biocenter Oulu University of Oulu FI 90014 Oulu Finland

Laboratory of Cancer Genetics and Tumour Biology Northern Finland Laboratory Centre NordLab FI 90014 Oulu Finland

Latvian Biomedical Research and Study Centre Riga LV 1067 Latvia

Lombardi Comprehensive Cancer Center Georgetown University Washington District of Columbia 20057 USA

Lunenfeld Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario M5G 1X5 Canada

Masaryk Memorial Cancer Institute and Medical Faculty MU 625 00 Brno Czech Republic

Medical College Xiamen University Xiamen 361102 China

Molecular Diagnostic Unit Hereditary Cancer Program IDIBELL Catalan Institute of Oncology Barcelona 08908 Spain

Molecular Diagnostics Laboratory Institute of Nuclear and Radiological Sciences and Technology National Centre for Scientific Research 'Demokritos' Aghia Paraskevi Attikis Athens 153 10 Greece

Molecular Diagnostics Laboratory IRRP National Centre for Scientific Research 'Demokritos' Athens 153 10 Greece

Molecular Epidemiology Group German Cancer Research Center Heidelberg 69120 Germany

Molecular Genetics of Breast Cancer German Cancer Research Center Heidelberg 69120 Germany

Molecular Oncology Laboratory Hospital Clinico San Carlos IdISSC Madrid 28040 Spain

Molecular Unit Department of Pathology Herlev Hospital University of Copenhagen 2730 Copenhagen Denmark

Multidisciplinary Breast Center Department of General Medical Oncology University Hospitals Leuven B 3000 Leuven Belgium

N N Petrov Institute of Oncology St Petersburg 197758 Russia

National Cancer Institute Bangkok 10400 Thailand

National Center for Tumour Diseases University of Heidelberg 69117 Heidelberg Germany

Netherlands Cancer Institute Antoni van Leeuwenhoek Hospital 1066 CX Amsterdam The Netherlands

Obstetrics and Gynecology Epidemiology Center Brigham and Women's Hospital and Harvard Medical School Boston Massachusetts 02115 USA

Oncogenetics Group University Hospital Vall d'Hebron Vall d'Hebron Institute of Oncology and Universitat Autònoma de Barcelona Barcelona 08035 Spain

Program in Cancer Genetics Departments of Human Genetics and Oncology McGill University Montreal Montreal Quebec H2W 1S6 Canada

Program in Epidemiology Division of Public Health Sciences Fred Hutchinson Cancer Research Center Seattle Washington 98109 USA

Prosserman Centre for Health Research Lunenfeld Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario M5G 1X5 Canada

QIMR Berghofer Medical Research Institute Brisbane Queensland 4029 Australia

Radboud University Medical Centre Radboud Institute for Health Sciences 6500 Nijmegen The Netherlands

Research Oncology Guy's Hospital King's College London London SE1 9RT UK

Saw Swee Hock School of Public Health National University of Singapore Singapore 119077 Singapore

School of Public Health China Medical University Taichung 404 Taiwan

Section of Genetic Oncology Department of Laboratory Medicine University and University Hospital of Pisa Pisa 56126 Italy

Shanghai Center for Disease Control and Prevention Shanghai China

Sheffield Cancer Research Department of Oncology University of Sheffield Sheffield S10 2TN UK

State Research Institute Centre for Innovative Medicine LT 01102 Vilnius Lithuania

Susanne Levy Gertner Oncogenetics Unit Sheba Medical Center Tel Hashomer 52621 Israel

Taiwan Biobank Institute of Biomedical Sciences Academia Sinica Taipei 115 Taiwan

The Hong Kong Hereditary Breast Cancer Family Registry Cancer Genetics Center Hong Kong Sanatorium and Hospital Hong Kong China

The Ohio State University and the James Cancer Center Columbus Ohio 43210 USA

The University of Texas School of Public Health Houston Texas 77030 USA

UCLA Schools of Medicine and Public Health Division of Cancer Prevention and Control Research Jonsson Comprehensive Cancer Center Los Angeles California 90024 USA

Unit of Medical Genetics Department of Preventive and Predictive Medicine Fondazione IRCCS 20133 Milan Italy

Unit of Molecular Bases of Genetic Risk and Genetic Testing Department of Preventive and Predictive Medicine Fondazione IRCCS 20133 Milan Italy

Unité de recherche en santé des populations Centre des maladies du sein Deschênes Fabia Centre de recherche FRSQ du Centre hospitalier affilié universitaire de Québec Québec City Québec G1J 1Z4 Canada

Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents Hospices Civils de Lyon Centre Léon Bérard Lyon 69008 France

Université Paris Descartes Sorbonne Paris Cité 75270 Paris France

University Cancer Center Hamburg University Medical Center Hamburg Eppendorf Hamburg 20246 Germany

University Hospital Erlangen Department of Gynecology and Obstetrics Friedrich Alexander University Erlangen Nuremberg Comprehensive Cancer Center Erlangen EMN Erlangen 91054 Germany

University Malaya Cancer Research Institute Faculty of Medicine University Malaya Medical Centre University Malaya 59100 Kuala Lumpur Malaysia

University of California at Los Angeles David Geffen School of Medicine Department of Medicine Division of Hematology and Oncology Los Angeles California 90095 USA

University of Hawaii Cancer Center Honolulu Hawaii 96813 USA

University of Texas MD Anderson Cancer Center Houston Texas 77030 USA

University of Tübingen Tübingen 72074 Germany

University Paris Sud 91405 Villejuif France

UO Anatomia Patologica Ospedale di Circolo Università dell'Insubria 21100 Varese Italy

Vesalius Research Center VIB 3000 Leuven Belgium

Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre University of Oxford Oxford OX3 7BN UK

Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Cedars Sinai Medical Center Los Angeles California 90048 USA

Women's Cancer UCL EGA Institute for Women's Health London WC1E 6AU UK

Zobrazit více v PubMed

Easton D. F. et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087–1093 (2007). PubMed PMC

Ahmed S. et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat. Genet. 41, 585–590 (2009). PubMed PMC

Ghoussaini M. et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat. Genet. 44, 312–318 (2012). PubMed PMC

Siddiq A. et al. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum. Mol. Genet. 21, 5373–5384 (2012). PubMed PMC

Garcia-Closas M. et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat. Genet. 45, 392–398 398e1-2 (2013). PubMed PMC

Michailidou K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 353–361 361e1-2 (2013). PubMed PMC

Song H. et al. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat. Genet. 41, 996–1000 (2009). PubMed PMC

Goode E. L. et al. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat. Genet. 42, 874–879 (2010). PubMed PMC

Bolton K. L. et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat. Genet. 42, 880–884 (2010). PubMed PMC

Bojesen S. E. et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat. Genet. 45, 371–384 384e1-2 (2013). PubMed PMC

Permuth-Wey J. et al. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat. Commun. 4, 1627 (2013). PubMed PMC

Pharoah P. D. et al. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat. Genet. 45, 362–370 370e1-2 (2013). PubMed PMC

Shen H. et al. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat. Commun. 4, 1628 (2013). PubMed PMC

Ghoussaini M. et al. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat. Commun. 4, 4999 (2014). PubMed PMC

Meyer K. B. et al. Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am. J. Hum. Genet. 93, 1046–1060 (2013). PubMed PMC

French J. D. et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am. J. Hum. Genet. 92, 489–503 (2013). PubMed PMC

Orr N. et al. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Hum. Mol. Genet. 24, 2966–2984 (2015). PubMed PMC

Glubb D. M. et al. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am. J. Hum. Genet. 96, 5–20 (2015). PubMed PMC

Coetzee S. G. et al. Cell type specific enrichment of risk associated regulatory elements at ovarian cancer susceptibility loci. Hum. Mol. Genet. 24, 3595–3607 (2015). PubMed PMC

Hazelett D. J. et al. Comprehensive functional annotation of 77 prostate cancer risk loci. PLoS Genet. 10, e1004102 (2014). PubMed PMC

Cowper-Sal lari R. et al. Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression. Nat. Genet. 44, 1191–1198 (2012). PubMed PMC

Spisák S. et al. CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants. Nat. Med. 21, 1357–1363 (2015). PubMed PMC

Claussnitzer M. et al. FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. N. Engl. J. Med. 373, 895–907 (2015). PubMed PMC

Antoniou A. C. et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat. Genet. 42, 885–892 (2010). PubMed PMC

Couch F. J. et al. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol. Biomarkers Prev. 21, 645–657 (2012). PubMed PMC

Stevens K. N. et al. 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res. 72, 1795–1803 (2012). PubMed PMC

Kuchenbaecker K. B. et al. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat. Genet. 47, 164–171 (2015). PubMed PMC

Stevens K. N. et al. Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res. 71, 6240–6249 (2011). PubMed PMC

Curtis C. et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 486, 346–352 (2012). PubMed PMC

Network, C. G. A. R. Integrated genomic analyses of ovarian carcinoma. Nature 474, 609–615 (2011). PubMed PMC

Li Q. et al. Integrative eQTL-based analyses reveal the biology of breast cancer risk loci. Cell 152, 633–641 (2013). PubMed PMC

Lawrenson K. et al. Senescent fibroblasts promote neoplastic transformation of partially transformed ovarian epithelial cells in a three-dimensional model of early stage ovarian cancer. Neoplasia 12, 317–325 (2010). PubMed PMC

Mavaddat N. et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol. Biomarkers Prev. 21, 134–147 (2012). PubMed PMC

Shao G. et al. MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks. Genes Dev. 23, 740–754 (2009). PubMed PMC

Hu X. et al. NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes. J. Biol. Chem. 286, 11734–11745 (2011). PubMed PMC

Stranger B. E. et al. Patterns of cis regulatory variation in diverse human populations. PLoS Genet. 8, e1002639 (2012). PubMed PMC

Sanyal A., Lajoie B.R., Jain G. & Dekker J. The long-range interaction landscape of gene promoters. Nature 489, 109–113 (2012). PubMed PMC

Thomas G., Brown A. L. & Brown J. M. PubMed PMC

Cheung H. W. et al. Systematic investigation of genetic vulnerabilities across cancer cell lines reveals lineage-specific dependencies in ovarian cancer. Proc. Natl Acad. Sci. USA 108, 12372–12377 (2011). PubMed PMC

Kar S. P. et al. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk. Cancer Epidemiol. Biomarkers Prev. 24, 1574–1584 (2015). PubMed PMC

Seksenyan A. et al. TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer. BMC Cancer 15, 22 (2015). PubMed PMC

Selvakumaran M., Pisarcik D. A., Bao R., Yeung A. T. & Hamilton T. C. Enhanced cisplatin cytotoxicity by disturbing the nucleotide excision repair pathway in ovarian cancer cell lines. Cancer Res. 63, 1311–1316 (2003). PubMed

Frankel N. et al. Phenotypic robustness conferred by apparently redundant transcriptional enhancers. Nature 466, 490–493 (2010). PubMed PMC

Michailidou K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 353–361 361e1–2 (2013). PubMed PMC

Couch F.J. et al. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 9, e1003212 (2013). PubMed PMC

Permuth-Wey J. et al. LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer. Cancer Res. 71, 3896–3903 (2011). PubMed PMC

Chenevix-Trench G. et al. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res. 9, 104 (2007). PubMed PMC

Antoniou A. C. et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat. Genet. 42, 885–892 (2010). PubMed PMC

Barnes D. R., Lee A., Easton D. F. & Antoniou A. C. Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genet. Epidemiol. 36, 274–291 (2012). PubMed

Antoniou A. C. et al. A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet. Epidemiol. 29, 1–11 (2005). PubMed

Mavaddat N. et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol. Biomarkers Prev. 21, 134–147 (2012). PubMed PMC

Lakhani S. R. et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J. Clin.Oncol. 20, 2310–2318 (2002). PubMed

Howie B. N., Donnelly P. & Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009). PubMed PMC

Baran Y. et al. Fast and accurate inference of local ancestry in Latino populations. Bioinformatics 28, 1359–1367 (2012). PubMed PMC

Shabalin A. A. Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Bioinformatics 28, 1353–1358 (2012). PubMed PMC

Karst A. M. & Drapkin R. Primary culture and immortalization of human fallopian tube secretory epithelial cells. Nat. Protoc. 7, 1755–1764 (2012). PubMed PMC

Ran F. A. et al. Genome engineering using the CRISPR-Cas9 system. Nat. Protoc. 8, 2281–2308 (2013). PubMed PMC

Wang B., Hurov K., Hofmann K. & Elledge S. J. NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control. Genes Dev. 23, 729–739 (2009). PubMed PMC

Lawrenson K. et al. Modelling genetic and clinical heterogeneity in epithelial ovarian cancers. Carcinogenesis 32, 1540–1549 (2011). PubMed

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...