Resultats globals: 3 registres trobats en 0.02 segons.
Articles, 3 registres trobats
Articles 3 registres trobats  
1.
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, Ake (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) ; Caldés, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caliebe, Almuth (University Hospital of Schleswig-Holstein) ; Caligo, Maria A. (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  
2.
21 p, 1.7 MB Individuals with FANCM biallelic mutations do no develop Fanconi anemia, but show risk for breast cancer, chemotherapy sensitivity toxicity and may display chromosome fragility / Catucci, Irene (Fondazione Italiana per la Ricerca sul Cancro) ; Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Arver, Brita (Karolinska Institutet (Estocolm, Suècia)) ; Neidhardt, Guido (Centrum für Integrierte Onkologie) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Zanardi, Federica (Fondazione Italiana per la Ricerca sul Cancro) ; Riboni, Mirko (Fondazione Italiana per la Ricerca sul Cancro) ; Minardi, Simone (Fondazione Italiana per la Ricerca sul Cancro) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Azzollini, Jacopo (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Peissel, Bernard (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Manoukian, Siranoush (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Vecchi, De, Giovanna (Fondazione Italiana per la Ricerca sul Cancro) ; Casola, Stefano (Fondazione Italiana per la Ricerca sul Cancro) ; Hauke, Jan (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Richters, Lisa (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Rhiem, Kerstin (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Schmutzler, Rita K. (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Wallander, Karin (Karolinska Institutet (Estocolm, Suècia)) ; Törngren, Therese (University of Lund. Department of Clinical Sciences) ; Borg, Åke (University of Lund. Department of Clinical Sciences) ; Radice, Paolo (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hahnen, Eric (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Ehrencrona, Hans (University of Lund. Department of Clinical Genetics) ; Kvist, Anders (University of Lund. Department of Clinical Sciences) ; Benítez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Peterlongo, Paolo (Fondazione Italiana per la Ricerca sul Cancro)
PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). [...]
2017 - 10.1038/gim.2017.123
Genetics in Medicine, Vol. 20 (April 2018) p. 452-457  
3.
14 p, 2.9 MB Exploring the link between MORF4L1 and risk of breast cancer / Martrat, Griselda (Institut d'Investigació Biomèdica de Bellvitge) ; Maxwell, Christopher A. (Institut d'Investigació Biomèdica de Bellvitge) ; Tominaga, Emiko (The University of Texas Health Science Center at San Antonio) ; Porta de la Riva, Montserrat (Institut d'Investigació Biomèdica de Bellvitge) ; Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge) ; Gomez-Baldo, Laia (Institut d'Investigació Biomèdica de Bellvitge) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ; Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge) ; Brunet, Joan (Hospital Universitari de Girona Doctor Josep Trueta) ; Aguilar, Helena (Institut d'Investigació Biomèdica de Bellvitge) ; Fernández-Rodríguez, Juana (Hospital Universitari de Girona Doctor Josep Trueta) ; Seal, Sheila (Institute of Cancer Research (Sutton, Regne Unit)) ; Renwick, Anthony (Institute of Cancer Research (Sutton, Regne Unit)) ; Rahman, Nazneen (Institute of Cancer Research (Sutton, Regne Unit)) ; Kühl, Julia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Neveling, Kornelia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Castellà, María (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Easton, Douglas F. (University of Cambridge. Department of Public Health and Primary Care) ; Peock, Susan (University of Cambridge. Department of Public Health and Primary Care) ; Cook, Margaret (University of Cambridge. Department of Public Health and Primary Care) ; Oliver, Clare T. (University of Cambridge. Department of Public Health and Primary Care) ; Frost, Debra (University of Cambridge. Department of Public Health and Primary Care) ; Platte, Radka (University of Cambridge. Department of Oncology) ; Evans, D. Gareth (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Lalloo, Fiona (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Eeles, Rosalind (The Institute of Cancer Research (Sutton, Regne Unit)) ; Izatt, Louise (Guy's and St Thomas NHS Foundation Trust (Londres, Regne Unit)) ; Chu, Carol (Yorkshire Regional Genetics Service (Leeds, Regne Unit)) ; Davids, Rosemarie (Ferguson-Smith Centre for Clinical Genetics (Glasgow, Regne Unit)) ; Ong, Kai-Ren (Birmingham Women's Hospital) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Douglas, Fiona (Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, Regne Unit)) ; Hodgson, Shirley (University of London. St George's Hospital) ; Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit)) ; Morrison, Patrick J. (Northern Ireland Regional Genetics Centre (Belfast, Regne Unit)) ; Porteous, Mary (South East of Scotland Regional Genetics Service (Edimburg, Regne Unit)) ; Peterlongo, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Manoukian, Siranoush (Fondazione IRCCS INT (Milà, Itàlia)) ; Peissel, Bernard (Fondazione IRCCS INT (Milà, Itàlia)) ; Zaffaroni, Daniela (Fondazione IRCCS INT (Milà, Itàlia)) ; Roversi, Gaia (Fondazione IRCCS INT (Milà, Itàlia)) ; Barile, Monica (Istituto Europeo di Oncologia (Milà, Itàlia)) ; Viel, Alessandra (Centro di Riferimento Oncologico (Aviano, Itàlia)) ; Pasini, Barbara (University of Turin. Department of Genetics, Biology and Biochemistry (Torí, Itàlia)) ; Ottini, Laura (Sapienza University of Rome. Department of Molecular Medicine) ; Putignano, Anna Laura (University of Florence. Department of Clinical Physiopathology (Florència, Itàlia)) ; Savarese, Antonella (Regina Elena Cancer Institute (Roma, Itàlia)) ; Bernard, Loris (IEO. Department of Experimental Oncology (Milà, Itàlia)) ; Radice, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Healey, Sue (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Spurdle, Amanda (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Chen, Xiaoqing (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Beesley, Jonathan (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Rookus, Matti A. (The Netherlands Cancer Institute. Department of Epidemiology (Amsterdam, Països Baixos)) ; Verhoef, Senno (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Tilanus-Linthorst, Madeleine A. (Erasmus MC-Daniel den Hoed Cancer Center (Rotterdam, Països Baixos)) ; Vreeswijk, Maaike P. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Asperen, Christi J. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Bodmer, Danielle (Radboud University Nijmegen Medical Center. Department of Human Genetics (Nijmegen, Països Baixos)) ; Ausems, Margreet G. E. M. (University Medical Center Utrecht. Department of Medical Genetics (Utrecht, Països Baixos)) ; van Os, Theo A. (Academic Medical Center, Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Blok, Marinus J. (University Hospital Maastricht. Department of Clinical Genetics (Maastricht, Països Baixos)) ; Meijers-Heijboer, Hanne E. J. (VU Medical Center. Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Hogervorst, Frans B. L. (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Goldgar, David E. (University of Utah School of Medicine. Department of Dermatology (Salt Lake City, Estats Units d'Amèrica)) ; Buys, Saundra (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ; John, Esther M. (Cancer Prevention Institute of California (Fremont, Estats Units d'Amèrica)) ; Miron, Alexander (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica). Department of Cancer Biology) ; Southey, Melissa (The University of Melbourne. Melbourne School of Population Health (Austràlia)) ; Daly, Mary B. (Fox Chase Cancer Center. Division of Population Science (Philadelphia, Estats Units d'Amèrica)) ; Harbst, Katja (Lund University. Department of Oncology (Lund, Suècia)) ; Borg, Åke (Lund University. Department of Oncology (Lund, Suècia)) ; Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Barbany-Bustinza, Gisela (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Ehrencrona, Hans (Uppsala University. Departament of Genetics and Pathology (Uppsala, Suècia)) ; Stenmark-Askmalm, Marie (Hälsouniversitetet Universitetssjukhuset. Department of Oncology (Linköping, Suècia)) ; Kaufman, Bella (Chaim Sheba Medical Center. The Institute of Oncology (Ramat Gan, Israel)) ; Laitman, Yael (Chaim Sheba Medical Center (Israel)) ; Milgrom, Roni (Chaim Sheba Medical Center (Israel)) ; Friedman, Eitan (Chaim Sheba Medical Center (Israel)) ; Domchek, Susan M. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Nathanson, Katherine L. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Rebbeck, Timothy R. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Johannsson, Oskar Thor (20A Landspitali-LSH v/Hringbraut. Department of Oncology (Reykjavik, Islàndia)) ; Couch, Fergus J. (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Wang, Xianshu (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Fredericksen, Zachary (Mayo Clinic. Department of Health Sciences Research (Rochester, Estats Units d'Amèrica)) ; Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge) ; Morros, Rosa (South East of Scotland Regional Genetics Service, Western General Hospital (Edimburg, Regne Unit)) ; Pientka, Friederike K. (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Depping, Reinhard (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Caldés, Trinidad (Hospital Clínico San Carlos (Madrid)) ; Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Benítez, Javier (Centro Nacional de Investigaciones Oncológicas) ; Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales, y Tecnológicas (Madrid, Espanya)) ; Heikkinen, Tuomas (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge) ; Tominaga, Kaoru (The University of Texas Health Science Center at San Antonio) ; Cerón, Julián (Institut d'Investigació Biomèdica de Bellvitge) ; Antoniou, Antonis C. (University of Cambridge. Department of Public Health and Primary Care) ; Fert Ferrer, Sandra (Hôtel Dieu Centre Hospitalier (Chambéry, França)) ; Collonge-Rame, Marie-Agnès (Centre Hospitalier Universitaire de Besançon (Besançon, França)) ; Mortemousque, Isabelle (Centre Hospitalier Universitaire Bretonneau (Tours, França)) ; McGuffog, Lesley (University of Cambridge. Department of Public Health and Primary Care) ; Chenevix-Trench, Georgia (Queensland Institute of Medical Research (Brisbane, Austràlia)) ; Pereira-Smith, Olivia M. (The University of Texas Health Science Center at San Antonio) ; Nevanlinna, Heli (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Hamann, Ute (Deutsches Krebsforschungszentrum (Heidelberg, Alemanya)) ; Torres, Diana (Pontificia Universidad Javeriana. Instituto de Genética Humana (Bogota, Colòmbia)) ; Caligo, Maria Adelaide (University Hospital of Pisa (Pisa, Itàlia)) ; Godwin, Andrew K. (University of Kansas Medical Center. Department of Pathology and Laboratory MedicineCenter (Kansas, Estats Units d'Amèrica)) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology. Laboratory of Molecular Oncology (Sant Petersburg, Rússia)) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics. Hematology, Oncology and Transfusion Medicine Center (Vilnius, Lituània)) ; Sinilnikova, Olga M. (Centre Hospitalier Universitaire de Lyon. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents (Lyon, França)) ; Stoppa-Lyonnet, Dominique (Institut Curie) ; Mazoyer, Sylvie (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Verny-Pierre, Carole (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Castera, Laurent (Institut Curie) ; De Pauw, Antoine (Institut Curie) ; Bignon, Yves-Jean (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Uhrhammer, Nancy (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Peyrat, Jean-Philippe (Centre Oscar Lambret. Laboratoire d'Oncologie Moléculaire Humaine (Lille, França)) ; Vennin, Philippe (Centre Oscar Lambret. Consultation d'Oncogénétique (Lille, França)) ; The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) ; The Netherlands Cancer Institute. Hereditary Breast and Ovarian Cancer Group (HEBON) ; University of Utah School of Medicine. Breast Cancer Family Registry (Salt Lake City, Estats Units d'Amèrica) ; Lund University. Swedish Breast Cancer Study (Lund, Suècia) ; Fédération Nationale des Centres de Lutte Contre le Cancer. Groupe Génétique et Cancer (Lyon, França)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. [...]
2011 - 10.1186/bcr2862
Breast cancer research, Vol. 13, Núm. R40 (4 2011) -14  

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