Resultats globals: 6 registres trobats en 0.02 segons.
Articles, 6 registres trobats
Articles 6 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) ; 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 (University Hospitals of Leicester) ; 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. Department of Clinical Genetics) ; Bojesen, Stig E. (University of Copenhagen) ; Bonanni, Bernardo (IEO, European Institute of Oncology) ; Borg, Ake (Lund University and Skåne University Hospital, Department of Oncology) ; 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 S. (Huntsman Cancer Institute, Department of Medicine) ; Caldés, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)) ; Caliebe, Almuth (University Hospital of Schleswig-Holstein) ; Caligo, Maria A. (University Hospital of Pisa) ; 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 B. M. (Ghent University, Centre for Medical Genetics) ; Clarke, Christine L. (University of Sydney, Westmead Institute for Medical Research) ; Collavoli, Anita (University and University Hospital of Pisa, Department of Laboratory Medicine) ; Conner, Thomas A. (Huntsman Cancer Institute) ; Cox, David G. (Cancer Research Center of Lyon) ; Cybulski, Cezary (Pomeranian Medical University, Department of Genetics and Pathology) ; Czene, Kamila (Karolinska Institutet. 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 (IdISSC)) ; 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, 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. 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. 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) ; 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 (IdISSC)) ; Gaudet, Mia M. (American Cancer Society) ; Gayther, Simon A. (Cedars Sinai Heart Institute) ; 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) ; 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) ; 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 Ulm, Department of Gynaecology and Obstetrics) ; 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) ; 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) ; 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) ; 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, Imaging Center, Department of Clinical Pathology) ; 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) ; Nathanson, Katherine L. (University of Pennsylvania, Department of Medicine) ; Neuhausen, Susan L. (Beckman Research Institute of City of Hope, 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, Center for Genomic Medicine) ; 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, Department of General Medical Oncology) ; Rack, Brigitte (University Hospital Ulm, Department of Gynaecology and Obstetrics) ; 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 (University Hospital of Larissa, Department of Oncology) ; Sanden, Kristin (University of Wisconsin, Cancer Center at ProHealth Care) ; Santamariña, Marta (Instituto de Investigación Sanitaria de Santiago de Compostela) ; 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) ; 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, 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, Department of Clinical Genetics) ; 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 de Compostela) ; 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  
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12 p, 432.6 KB Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results : an observational prospective study / Brédart, Anne (Université Paris Descartes) ; Kop, Jean-Luc (Université de Lorraine. Département de Psychologie) ; Dick, Julia (Cancer Center Cologne) ; Cano, Alejandra (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; De Pauw, Antoine (Institut Curie) ; Anota, Amélie (Centre Hospitalier Régional Universitaire de Besançon) ; Brunet, Joan (Institut Català d'Oncologia) ; Devilee, Peter (Leiden University Medical Center) ; Stoppa-Lyonnet, Dominique (Institut Curie) ; Schmutzler, Rita (Uniklinik Köln (Colònia, Alemanya)) ; Dolbeault, Sylvie (Université Paris-Saclay)
Objectives and setting Advances in multigene panel testing for cancer susceptibility has increased the complexity of counselling, requiring particular attention to counselees' psychosocial needs. Changes in psychosocial problems before and after genetic testing were prospectively compared between genetic test results in women tested for breast or ovarian cancer genetic susceptibility in French, German and Spanish clinics. [...]
2019 - 10.1136/bmjopen-2019-029926
BMJ open, Vol. 9, núm. 9 (2019) , p. e029926  
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9 p, 821.2 KB Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility / Keupp, Katharina (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Hampp, Stephanie (Department of Obstetrics and Gynecology. Ulm University) ; Hübbel, Annette (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Maringa, Monika (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Kostezka, Sarah (Department of Obstetrics and Gynecology. Ulm University) ; Rhiem, Kerstin (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Waha, Anke (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Wappenschmidt, Barbara (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Pujol, Roser. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Schmutzler, Rita K. (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Wiesmüller, Lisa (Department of Obstetrics and Gynecology. Ulm University) ; Hahnen, Eric (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Background: Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. [...]
2019 - 10.1002/mgg3.863
Molecular genetics & genomic medicine, Vol. 7 Núm. 9 (january 2019) , p. e863  
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16 p, 352.3 KB Patient-centered care in breast cancer genetic clinics / Brédart, Anne (Univesité Paris Descartes) ; Anota, Amélie (Centre Hospitalier Régional Universitaire de Besançon) ; Dick, Julia (Cancer Center Cologne) ; Kuboth, Violetta (Cancer Center Cologne) ; Lareyre, Olivier (Institut Curie) ; De Pauw, Antoine (Institut Curie) ; Cano, Alejandra (Universitat Autònoma de Barcelona. Departament de Psicologia Bàsica, Evolutiva i de l'Educació) ; Stoppa-Lyonnet, Dominique (Institut Curie) ; Schmutzler, Rita (Cancer Center Cologne) ; Dolbeault, Sylvie (Centre de Recherche en Épidémiologie et Santé des Populations (CESP)) ; Kop, Jean-Luc (Université de Lorraine)
With advances in breast cancer (BC) gene panel testing, risk counseling has become increasingly complex, potentially leading to unmet psychosocial needs. We assessed psychosocial needs and correlates in women initiating testing for high genetic BC risk in clinics in France and Germany, and compared these results with data from a literature review. [...]
2018 - 10.3390/ijerph15020319
International journal of environmental research and public health, Vol. 15 (february 2018)  
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12 p, 371.6 KB DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers / Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Milne, Roger L. (Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia) ; Kuchenbaecker, Karoline (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Vaclová, Tereza (Centro Nacional de Investigaciones Oncológicas) ; Pita, Guillermo (Centro Nacional de Investigaciones Oncológicas) ; Alonso, Rosario (Centro Nacional de Investigaciones Oncológicas) ; Peterlongo, Paolo (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; de la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)) ; Duran, Mercedes (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Konstantopoulou, Irene (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ; Martínez-Bouzas, Cristina (Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain) ; Andrés Conejero, Raquel (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ; Soucy, Penny (Centre Hospitalier Universitaire de Québec. Cancer Genomics Laboratory) ; McGuffog, Lesley (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Barrowdale, Daniel (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Lee, Andrew (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; SWE-BRCA, None (Department of Oncology, Lund University, Lund, Sweden) ; Arver, Brita (Department of Oncology, Karolinska University Hospital, Stockholm, Sweden) ; Rantala, Johanna (Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden) ; Loman, Niklas (Department of Oncology, Lund University Hospital, Lund, Sweden) ; Ehrencrona, Hans (Department of Clinical Genetics, Lund University Hospital, Lund, Sweden) ; Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America) ; Beattie, Mary S. (Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America) ; Domchek, Susan M. (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Nathanson, Katherine (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Rebbeck, Timothy R. (Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Arun, Banu K. (University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America) ; Karlan, Beth Y. (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; Walsh, Christine (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; Lester, Jenny (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America) ; Whittemore, Alice S. (Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America) ; Daly, Mary B. (Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America) ; Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia) ; Hopper, John (Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia) ; Terry, Mary B. (Department of Epidemiology, Columbia University, New York, New York, United States of America) ; Buys, Saundra S. (Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania) ; Dorfling, Cecilia M. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ; van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ; Steele, Linda (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ; Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ; Ding, Yuan Chun (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ; Hansen, Thomas v. O. (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Jønson, Lars (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Ejlertsen, Bent (Department of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Gerdes, Anne-Marie (Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Infante, Mar (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain) ; Herráez, Belén (Centro Nacional de Investigaciones Oncológicas) ; Moreno, Leticia Thais (Centro Nacional de Investigaciones Oncológicas) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Herzog, Josef (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Weeman, Kisa (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Zaffaroni, Daniela (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Scuvera, Giulietta (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Bonanni, Bernardo (Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy) ; Mariette, Frederique (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Volorio, Sara (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Viel, Alessandra (Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy) ; Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy) ; Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy) ; Ottini, Laura (Department of Molecular Medicine, "Sapienza" University, Rome, Italy) ; Tibiletti, Maria Grazia (UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy) ; Radice, Paolo (Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Yannoukakos, Drakoulis (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ; Garber, Judy (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ; Ellis, Steve (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Frost, Debra (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Platte, Radka (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Fineberg, Elena (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Evans, Gareth (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom) ; Lalloo, Fiona (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom) ; Izatt, Louise (South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom) ; Eeles, Ros (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom) ; Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, United Kingdom) ; Davidson, Rosemarie (Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom) ; Cole, Trevor (West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom) ; Eccles, Diana (Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom) ; Cook, Jackie (Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom) ; Hodgson, Shirley (Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom) ; Brewer, Carole (Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom) ; Tischkowitz, Marc (Addenbrookes Hospital (Cambridge, Regne Unit)) ; Douglas, Fiona (Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom) ; Porteous, Mary (South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom) ; Side, Lucy (North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom) ; Walker, Lisa (Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom) ; Morrison, Patrick (Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom) ; Donaldson, Alan (South West Regional Genetics Service, Bristol, United Kingdom) ; Kennedy, John (Trinity College Dublin) ; Foo, Claire (Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom) ; Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America) ; Schmutzler, Rita Katharina (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Wappenschmidt, Barbara (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Rhiem, Kerstin (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany) ; Meindl, Alfons (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ; Ditsch, Nina (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ; Arnold, Norbert (Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ; Plendl, Hans Jörg (Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ; Niederacher, Dieter (Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany) ; Sutter, Christian (Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany) ; Wang-Gohrke, Shan (Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany) ; Steinemann, Doris (Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany) ; Preisler-Adams, Sabine (Institute of Human Genetics, University of Münster, Münster, Germany) ; Kast, Karin (Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany) ; Varon-Mateeva, Raymonda (Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany) ; Gehrig, Andrea (Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ; Sinilnikova, Olga M. (Centre National de la Recherche Scientifique (França)) ; Mazoyer, Sylvie (Centre National de la Recherche Scientifique (França)) ; Damiola, Francesca (Centre National de la Recherche Scientifique (França)) ; Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Piedmonte, Marion (Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America) ; Tucker, Kathy (Prince of Wales Hospital. Sydney, Australia) ; Backes, Floor (Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America) ; Rodríguez, Gustavo (Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America) ; Brewster, Wendy (Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America) ; Wakeley, Katie (For Tufts Medical Center, Boston, Massachusetts, United States of America) ; Rutherford, Thomas (Yale University School of Medicine, New Haven, Connecticut, United States of America) ; Caldés, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)) ; Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ; Aittomäki, Kristiina (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ; Rookus, Matti A. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; van Os, Theo A. M. (Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands) ; van der Kolk, Lizet (Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; de Lange, J. L. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; Meijers-Heijboer, Hanne E. J. (Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands) ; van der Hout, A. H. (University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands) ; van Asperen, Christi J. (Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands) ; Gómez Garcia, Encarna B. (Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands) ; Hoogerbrugge, Nicoline (Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands) ; Collée, J. Margriet (Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ; van Deurzen, Carolien H. M. (Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ; van der Luijt, Rob B. (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands) ; Devilee, Peter (Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands) ; HEBON, None (The Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ; Lázaro, Conxi (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Teulé, Alex (Institut d'Investigació Biomèdica de Bellvitge) ; Menéndez, Mireia (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Cybulski, Cezary (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Gronwald, Jacek (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Durda, Katarzyna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Jaworska-Bieniek, Katarzyna (Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland) ; Johannsson, Oskar Th. (Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland) ; Maugard, Christine (Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France) ; Montagna, Marco (Veneto Institute of Oncology (Pàdua, Itàlia)) ; Tognazzo, Silvia (Veneto Institute of Oncology (Pàdua, Itàlia)) ; Teixeira, Manuel R. (Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal) ; Healey, Sue (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ; Investigators, kConFab (Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia) ; Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ; Guidugli, Lucia (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ; Lindor, Noralane (Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America) ; Slager, Susan (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ; Szabo, Csilla I. (Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America) ; Vijai, Joseph (Memorial Sloan Kettering Cancer Center) ; Robson, Mark (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Kauff, Noah (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Zhang, Liying (Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Rau-Murthy, Rohini (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Fink-Retter, Anneliese (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Singer, Christian F. (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Rappaport, Christine (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Geschwantler Kaulich, Daphne (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Pfeiler, Georg (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Tea, Muy-Kheng (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Berger, Andreas (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America) ; Greene, Mark H. (National Cancer Institute (Rockville, Estats Units d'Amèrica)) ; Mai, Phuong L. (National Cancer Institute (Rockville, Estats Units d'Amèrica)) ; Lejbkowicz, Flavio (Clalit National Israeli Cancer Control Center, Haifa, Israel) ; Andrulis, Irene L (Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada) ; Mulligan, Anna Marie (University of Toronto) ; Glendon, Gord (Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada) ; Toland, Amanda Ewart (Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, United States of America) ; Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark) ; Pedersen, Inge Sokilde (Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark) ; Sunde, Lone (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark) ; Thomassen, Mads (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark) ; Kruse, Torben A. (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark) ; Jensen, Uffe Birk (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark) ; Friedman, Eitan (Sheba Medical Center, Tel Aviv, Israel) ; Laitman, Yael (Sheba Medical Center, Tel Aviv, Israel) ; Shimon, Shani Paluch (Sheba Medical Center, Tel Aviv, Israel) ; Simard, Jacques (Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada) ; Easton, Douglas F. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Offit, Kenneth (Memorial Sloan Kettering Cancer Center) ; Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ; Chenevix-Trench, Georgia (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ; Antoniou, Antonis C. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ; Universitat Autònoma de Barcelona
Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. [...]
2014 - 10.1371/journal.pgen.1004256
PLoS Genetics, Vol. 10 (april 2014)  
6.
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  

Vegeu també: autors amb noms similars
1 Schmutzler, R.K.
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