6.
|
14 p, 1.9 MB |
The FANCM :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
/
Figlioli, Gisella (The FIRC Institute for Molecular Oncology) ;
Bogliolo, Massimo (Institut d'Investigació Biomèdica Sant Pau) ;
Catucci, Irene (The FIRC Institute for Molecular Oncology) ;
Caleca, Laura (Istituto Nazionale dei Tumori, Department of Research) ;
Viz Lasheras, Sandra (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Pujol, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Kiiski, Johanna I. (University of Helsinki, Department of Obstetrics and Gynecology) ;
Muranen, Taru A. (University of Helsinki, Department of Obstetrics and Gynecology) ;
Barnes, Daniel R. (University of Cambridge, Department of Public Health and Primary Care) ;
Dennis, Joe (University of Cambridge, Department of Public Health and Primary Care) ;
Michailidou, Kyriaki (The Cyprus Institute of Neurology & Genetics, Department of Electron Microscopy) ;
Bolla, Manjeet K. (University of Cambridge, Department of Public Health and Primary Care) ;
Leslie, Goska (University of Cambridge, Department of Public Health and Primary Care) ;
Aalfs, Cora M. (Amsterdam UMC, Department of Clinical Genetics) ;
Adank, Muriel A. (The Netherlands Cancer Institute (NKI) (Netherlands)) ;
Adlard, Julian (Chapel Allerton Hospital) ;
Agata, Simona (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Cadoo, Karen (Memorial Sloan Kettering Cancer Center) ;
Agnarsson, Bjarni A. (University of Iceland, School of Medicine) ;
Ahearn, Thomas (National Cancer Institute) ;
Aittomäki, Kristiina (University of Helsinki, Department of Clinical Genetics) ;
Ambrosone, Christine B. (Roswell Park Cancer Institute) ;
Andrews, Lesley (Nelune Comprehensive Cancer Care Centre) ;
Anton-Culver, Hoda (University of California Irvine, Department of Epidemiology) ;
Antonenkova, Natalia N. (N.N. Alexandrov Research Institute of Oncology and Medical Radiology) ;
Arndt, Volker (German Cancer Research Center) ;
Arnold, Norbert (University Hospital of Schleswig-Holstein, Department of Gynaecology and Obstetrics) ;
Aronson, Kristan J. (Queen's University, Department of Public Health Sciences) ;
Arun, Banu K. (University of Texas, Department of Breast Medical Oncology) ;
Asseryanis, Ella (Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center) ;
Auber, Bernd (Institute of Human Genetics) ;
Auvinen, Päivi (University of Eastern Finland, Translational Cancer Research Area) ;
Azzollini, Jacopo (Fondazione Istituto Nazionale dei Tumori di Milano, Department of Medical Oncology and Hematology) ;
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ;
Barkardottir, Rosa B. (University of Iceland) ;
Barrowdale, Daniel (University of Cambridge, Department of Public Health and Primary Care) ;
Barwell, Julian (Leicester General Hospital (Leicester, Regne Unit)) ;
Beane Freeman, Laura E. (National Cancer Institute) ;
Beauparlant, Charles Joly (Centre Hospitalier Universitaire de Québec - Université Laval) ;
Beckmann, Matthias W. (Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics) ;
Behrens, Sabine (German Cancer Research Center) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
Berger, Raanan (Chaim Sheba Medical Center. The Institute of Oncology) ;
Bermisheva, Marina (Institute of Biochemistry and Genetics) ;
Blanco, Amie M. (University of California San Francisco) ;
Blomqvist, Carl (Örebro University Hospital, Department of Oncology) ;
Bogdanova, Natalia V. (Hannover Medical School) ;
Bojesen, Anders (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Bojesen, Stig E. (University of Copenhagen) ;
Bonanni, Bernardo (IEO, European Institute of Oncology) ;
Borg, Åke (Skåne University Hospital (Suècia)) ;
Brady, Angela F. (London North West University Hospitals) ;
Brauch, Hiltrud (German Cancer Research Center) ;
Brenner, Hermann (German Cancer Research Center) ;
Brüning, Thomas (Institute of the Ruhr University Bochum) ;
Burwinkel, Barbara (University of Heidelberg) ;
Buys, Saundra (Huntsman Cancer Institute, Department of Medicine) ;
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Caliebe, Almuth (University Hospital of Schleswig-Holstein) ;
Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ;
Campa, Daniele (University of Pisa, Department of Biology) ;
Campbell, Ian G. (The University of Melbourne, Department of Oncology) ;
Canzian, Federico (German Cancer Research Center) ;
Castelao, Jose E. (Instituto de Investigación Sanitaria Galicia Sur) ;
Chang-Claude, Jenny (University Medical Center Hamburg-Eppendorf) ;
Chanock, Stephen J. (National Cancer Institute) ;
Claes, Kathleen (Ghent University, Centre for Medical Genetics) ;
Clarke, Christine L. (University of Sydney, Westmead Institute for Medical Research) ;
Collavoli, Anita (University Hospital of Pisa (Pisa, Itàlia)) ;
Conner, Thomas A. (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ;
Cox, David G. (Cancer Research Center of Lyon) ;
Cybulski, Cezary (Pomeranian Medical University, Department of Genetics and Pathology) ;
Czene, Kamila (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Daly, Mary B. (Fox Chase Cancer Center, Department of Clinical Genetics) ;
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Devilee, Peter (Leiden University Medical Center, Department of Human Genetics) ;
Diez, Orland (Hospital Universitari Vall d'Hebron) ;
Ding, Yuan Chun (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Dite, Gillian S. (The University of Melbourne) ;
Ditsch, Nina (Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics) ;
Domchek, Susan M. (Perelman School of Medicine at the University of Pennsylvania, Department of Medicine) ;
Dorfling, Cecilia M. (University of Pretoria, Department of Genetics) ;
dos-Santos-Silva, Isabel (London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology) ;
Durda, Katarzyna (Pomeranian Medical University, Department of Genetics and Pathology) ;
Dwek, Miriam (University of Westminster, Department of Biomedical Sciences) ;
Eccles, Diana M. (University of Southampton, Cancer Sciences Academic Unit) ;
Ekici, Arif B. (Friedrich-Alexander University Erlangen-Nuremberg) ;
Eliassen, A. Heather (Harvard T.H. Chan School of Public Health, Department of Epidemiology) ;
Ellberg, Carolina (Lund University, Department of Cancer Epidemiology) ;
Eriksson, Mikael (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Evans, D. Gareth (Manchester University NHS Foundation Trust) ;
Fasching, Peter A. (University of California at Los Angeles, Department of Medicine Division of Hematology and Oncology) ;
Figueroa, Jonine (Cancer Research UK Edinburgh Centre) ;
Flyger, Henrik (Copenhagen University Hospital) ;
Foulkes, William D. (McGill University, Departments of Human Genetics and Oncology) ;
Friebel, Tara M. (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
Friedman, Eitan (Tel Aviv University) ;
Gabrielson, Marike (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Gaddam, Pragna (Memorial Sloan-Kettering Cancer Center (Nova York, Estats Units d'Amèrica)) ;
Gago-Dominguez, Manuela (University of California San Diego) ;
Gao, Chi (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ;
Gapstur, Susan M. (American Cancer Society) ;
Garber, Judy (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
García-Closas, Montserrat (National Cancer Institute) ;
García-Sáenz, José A. (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Gaudet, Mia M. (American Cancer Society) ;
Gayther, Simon A. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Giles, Graham G. (Monash University, Department of Epidemiology and Preventive Medicine) ;
Glendon, Gord (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital) ;
Godwin, Andrew K. (Kansas University Medical Center, Department of Pathology and Laboratory Medicine) ;
Goldberg, Mark S. (McGill University) ;
Goldgar, David E. (University of Utah School of Medicine, Department of Dermatology) ;
Guénel, Pascal (University Paris-Sud, University Paris-Saclay) ;
Gutierrez-Barrera, Angelica M. (University of Texas, Department of Breast Medical Oncology and Clinical Genetics Program) ;
Haeberle, Lothar (University Hospital Erlangen (Alemanya)) ;
Haiman, Christopher A. (University of Southern California, Department of Preventive Medicine) ;
Håkansson, Niclas (Karolinska Institutet, Institute of Environmental Medicine) ;
Hall, Per (Södersjukhuset, Department of Oncology) ;
Hamann, Ute (German Cancer Research Center) ;
Harrington, Patricia A. (University of Cambridge, Department of Oncology) ;
Hein, Alexander (University Hospital Erlangen (Alemanya)) ;
Heyworth, Jane (The University of Western Australia) ;
Hillemanns, Peter (Hannover Medical School, Gynaecology Research Unit) ;
Hollestelle, Antoinette (Erasmus MC Cancer Institute) ;
Hopper, John L. (The University of Melbourne) ;
Hosgood, H. Dean (Albert Einstein College of Medicine) ;
Howell, Anthony (University of Manchester, Division of Cancer Sciences) ;
Hu, Chunling (Mayo Clinic, Department of Laboratory Medicine and Pathology) ;
Hulick, Peter J. (The University of Chicago Pritzker School of Medicine) ;
Hunter, David J. (University of Oxford) ;
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology) ;
Isaacs, Claudine (Georgetown University) ;
Jakimovska, Milena (Macedonian Academy of Sciences and Arts) ;
Jakubowska, Anna (Pomeranian Medical University) ;
James, Paul (Peter MacCallum Cancer Center) ;
Janavicius, Ramunas (State Research Institute Innovative Medicine Center) ;
Janni, Wolfgang (University Hospital of Ulm (Alemanya)) ;
John, Esther M. (Stanford University School of Medicine, Department of Medicine) ;
Jones, Michael E. (The Institute of Cancer Research) ;
Jung, Audrey (German Cancer Research Center) ;
Kaaks, Rudolf (German Cancer Research Center) ;
Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Khusnutdinova, Elza (Bashkir State Medical University, Department of Medical Genetics) ;
Kitahara, Cari M. (National Cancer Institute) ;
Konstantopoulou, Irene (National Centre for Scientific Research 'Demokritos') ;
Koutros, Stella (National Cancer Institute) ;
Kraft, Peter (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ;
Lambrechts, Diether (University of Leuven, Department of Human Genetics) ;
Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ;
Le Marchand, Loic (University of Hawaii Cancer Center, Epidemiology Program) ;
Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Lesueur, Fabienne (Mines ParisTech) ;
Lilyquist, Jenna (Mayo Clinic, Department of Health Sciences Research) ;
Loud, Jennifer T. (National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics) ;
Lu, Karen H. (University of Texas MD Anderson Cancer Center, Department of Gynecologic Oncology) ;
Luben, Robert N. (University of Cambridge, Department of Public Health and Primary Care) ;
Lubinski, Jan (Pomeranian Medical University, Department of Genetics and Pathology) ;
Mannermaa, Arto (Kuopio University Hospital ( Finlàndia)) ;
Manoochehri, Mehdi (German Cancer Research Center) ;
Manoukian, Siranoush (Istituto Nazionale dei Tumori di Milano) ;
Margolin, Sara (Karolinska Institutet, Department of Clinical Science and Education) ;
Martens, John W. M. (Erasmus MC Cancer Institute) ;
Maurer, Tabea (University Medical Center Hamburg-Eppendorf) ;
Mavroudis, Dimitrios (University Hospital of Heraklion, Department of Medical Oncology) ;
Mebirouk, Noura (Mines ParisTech) ;
Meindl, Alfons (Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics) ;
Menon, Usha (University College London) ;
Miller, Austin (Roswell Park Cancer Institute) ;
Montagna, Marco (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Nathanson, Katherine L. (University of Pennsylvania, Department of Medicine) ;
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Newman, William G. (Manchester University NHS Foundation Trust) ;
Nguyen-Dumont, Tu (The University of Melbourne, Department of Clinical Pathology) ;
Nielsen, Finn Cilius (Copenhagen University Hospital) ;
Nielsen, Sarah (The University of Chicago, Center for Clinical Cancer Genetics) ;
Nikitina-Zake, Liene (Latvian Biomedical Research and Study Centre) ;
Offit, Kenneth (Memorial Sloan-Kettering Cancer Center, Clinical Genetics Service, Department of Medicine) ;
Olah, Edith (National Institute of Oncology, Department of Molecular Genetics) ;
Olopade, Olufunmilayo I. (The University of Chicago) ;
Olshan, Andrew F. (University of North Carolina at Chapel Hill, Department of Epidemiology) ;
Olson, Janet E. (Mayo Clinic, Department of Health Sciences Research) ;
Olsson, Håkan (Lund University, Department of Cancer Epidemiology, Clinical Sciences) ;
Osorio, Ana (Spanish Network on Rare Diseases) ;
Ottini, Laura (University La Sapienza, Department of Molecular Medicine) ;
Peissel, Bernard (Istituto Nazionale dei Tumori di Milano) ;
Peixoto, Ana (Portuguese Oncology Institute, Department of Genetics) ;
Peto, Julian (London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology) ;
Plaseska-Karanfilska, Dijana (Macedonian Academy of Sciences and Arts) ;
Pocza, Timea (National Institute of Oncology, Department of Molecular Genetics) ;
Presneau, Nadege (University of Westminster, Department of Biomedical Sciences) ;
Pujana, Miquel Angel (Institut d'Investigació Biomèdica de Bellvitge) ;
Punie, Kevin (University Hospitals Leuven (Bèlgica)) ;
Rack, Brigitte (University Hospital of Ulm (Alemanya)) ;
Rantala, Johanna (Karolinska Institutet, Clinical Genetics) ;
Rashid, Muhammad U. (Shaukat Khanum Memorial Cancer Hospital and Research Centre, Department of Basic Sciences) ;
Rau-Murthy, Rohini (Memorial Sloan-Kettering Cancer Center, Department of Medicine) ;
Rennert, Gad (Clalit National Cancer Control Center) ;
Lejbkowicz, Flavio (Clalit National Cancer Control Center) ;
Rhenius, Valerie (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology) ;
Romero, Atocha (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Rookus, Matti A. (The Netherlands Cancer Institute, Department of Epidemiology) ;
Ross, Eric A. (Fox Chase Cancer Center) ;
Rossing, Maria (Copenhagen University Hospital) ;
Rudaitis, Vilius (Vilnius University, Institute of Clinical Medicine) ;
Ruebner, Matthias (University Hospital Erlangen. Friedrich-Alexander University Erlangen-Nuremberg, Department of Gynaecology and Obstetrics) ;
Saloustros, Emmanouil (General University Hospital of Larissa (Grècia)) ;
Sanden, Kristin (University of Wisconsin, Cancer Center at ProHealth Care) ;
Santamariña, Marta (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Scheuner, Maren T. (University of California San Francisco, Cancer Genetics and Prevention Program) ;
Schmutzler, Rita K. (University of Cologne, Center for Molecular Medicine Cologne) ;
Schneider, Michael (University Hospital Erlangen (Alemanya)) ;
Scott, Christopher (Mayo Clinic, Department of Health Sciences Research) ;
Senter, Leigha (The Ohio State University, Department of Internal Medicine) ;
Shah, Mitul (University of Cambridge, Department of Oncology) ;
Sharma, Priyanka (University of Kansas Medical Center, Department of Internal Medicine) ;
Shu, Xiao-Ou (Vanderbilt University School of Medicine, Department of Medicine) ;
Simard, Jacques (Université Laval) ;
Singer, Christian F. (Medical University of Vienna) ;
Sohn, Christof (University of Heidelberg) ;
Soucy, Penny (Université Laval) ;
Southey, Melissa C. (The University of Melbourne, Department of Clinical Pathology) ;
Spinelli, John J. (University of British Columbia, School of Population and Public Health) ;
Steele, Linda (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Stoppa-Lyonnet, Dominique (Université Paris Descartes) ;
Tapper, William J. (University of Southampton) ;
Teixeira, Manuel R. (University of Porto) ;
Terry, Mary Beth (Columbia University, Department of Epidemiology) ;
Thomassen, Mads (Odense University Hospital (Dinamarca)) ;
Thompson, Jennifer (NorthShore University HealthSystem, Center for Medical Genetics) ;
Thull, Darcy L. (University of Pittsburgh School of Medicine, Department of Medicine) ;
Tischkowitz, Marc (University of Cambridge, Department of Medical Genetics) ;
Tollenaar, Rob A. E. M. (Leiden University Medical Center, Department of Surgery) ;
Torres, Diana (Pontificia Universidad Javeriana) ;
Troester, Melissa A. (University of North Carolina at Chapel Hill) ;
Truong, Thérèse (University Paris-Sud) ;
Tung, Nadine (Beth Israel Deaconess Medical Center, Department of Medical Oncology) ;
Untch, Michael (Helios Clinics Berlin-Buch, Department of Gynecology and Obstetrics) ;
Vachon, Celine M. (Mayo Clinic, Department of Health Sciences Research) ;
van Rensburg, Elizabeth J. (University of Pretoria, Department of Genetics) ;
van Veen, Elke M. (Manchester University NHS Foundation Trust) ;
Vega, Ana (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Viel, Alessandra (Centro di Riferimento Oncologico di Aviano) ;
Wappenschmidt, Barbara (University of Cologne, Center for Molecular Medicine Cologne) ;
Weitzel, Jeffrey N. (City of Hope, Clinical Cancer Genetics) ;
Wendt, Camilla (Karolinska Institutet (Estocolm, Suècia)) ;
Wieme, Greet (Ghent University, Centre for Medical Genetics) ;
Wolk, Alicja (Uppsala University, Department of Surgical Sciences) ;
Yang, Xiaohong R. (National Cancer Institute) ;
Zheng, Wei (Vanderbilt University School of Medicine) ;
Ziogas, Argyrios (University of California Irvine, Department of Epidemiology) ;
Zorn, Kristin K. (University of Pittsburgh School of Medicine) ;
Dunning, Alison M. (University of Cambridge, Department of Oncology) ;
Lush, Michael (University of Cambridge, Department of Public Health and Primary Care) ;
Wang, Qin (University of Cambridge, Department of Public Health and Primary Care) ;
McGuffog, Lesley (University of Cambridge, Department of Public Health and Primary Care) ;
Parsons, Michael T. (QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology) ;
Pharoah, Paul D. P. (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology) ;
Fostira, Florentia (National Centre for Scientific Research 'Demokritos') ;
Toland, Amanda E. (The Ohio State University, Department of Cancer Biology and Genetics) ;
Andrulis, Irene L. (University of Toronto, Department of Molecular Genetics) ;
Ramus, Susan J. (The Kinghorn Cancer Centre, Garvan Institute of Medical Research) ;
Swerdlow, Anthony J. (The Institute of Cancer Research) ;
Greene, Mark H. (National Cancer Institute, Clinical Genetics Branch) ;
Chung, Wendy K. (Columbia University, Departments of Pediatrics and Medicine) ;
Milne, Roger L. (Monash University) ;
Chenevix-Trench, Georgia (QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology) ;
Dörk, Thilo (Hannover Medical School) ;
Schmidt, Marjanka K. (The Netherlands Cancer Institute (NKI) (Netherlands)) ;
Easton, Douglas F. (University of Cambridge, Department of Oncology) ;
Radice, Paolo (Istituto Nazionale dei Tumori) ;
Hahnen, Eric (University of Cologne) ;
Antoniou, Antonis C. (University of Cambridge, Department of Public Health and Primary Care) ;
Couch, Fergus J. (Mayo Clinic, Department of Laboratory Medicine and Pathology) ;
Nevanlinna, Heli (University of Helsinki, Department of Obstetrics and Gynecology) ;
Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Peterlongo, Paolo (The FIRC Institute for Molecular Oncology)
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. [...]
2019 - 10.1038/s41523-019-0127-5
NPJ breast cancer, Vol. 5 (November 2019) , art. 38
|
|