Resultados globales: 9 registros encontrados en 0.03 segundos.
Artículos, Encontrados 6 registros
Documentos de investigación, Encontrados 3 registros
Artículos Encontrados 6 registros  
1.
4 p, 1018.1 KB Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation / Cedrés, Susana (Hospital Universitari Vall d'Hebron) ; Felip, Enriqueta (Universitat Autònoma de Barcelona) ; Cruz, Cristina (Hospital Universitari Vall d'Hebron) ; Martinez de Castro, Ana (Hospital Universitari Vall d'Hebron) ; Pardo, Nuria (Universitat Autònoma de Barcelona) ; Navarro, Alejandro (Universitat Autònoma de Barcelona) ; Martinez-Marti, Alex (Universitat Autònoma de Barcelona) ; Remon, Jordin (Vall d'Hebron Institut d'Oncologia) ; Zeron-Medina, Jorge (Hospital Universitari Vall d'Hebron) ; Balmaña Gelpí, Judith (Universitat Autònoma de Barcelona) ; Llop-Guevara, Alba (Experimental Therapeutic Group) ; Miquel, Josep M (Vall d'Hebron Institut d'Oncologia) ; Sansano, Irene (Pathology Department) ; Nuciforo, Paolo (Molecular Oncology Group) ; Mancuso, Francesco (Cancer Genomic Group) ; Serra, Violeta (Experimental Therapeutic Group) ; Vivancos, Ana (Cancer Genomic Group)
Heat shock proteins (HSPs) are molecular chaperones that maintain proteins in their correct conformation to ensure stability and protect carcinoma cells from apoptosis. HSP90 inhibitors (HSP90i) block multiple targets simultaneously, and despite responses in a selected population, no HSP90i have yet been approved. [...]
2018 - 10.1093/jnci/djy012
JNCI Journal of the National Cancer Institute, Vol. 110 (february 2018) , p. 914-917  
2.
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 (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 S. (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 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 (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, 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) ; 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 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) ; 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) ; 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 (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 (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 (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) ; 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 (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  
3.
7 p, 306.9 KB Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations / Singer, Christian.F. (Medical University of Vienna) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Bürki, Nicole. (University Hospital Basel (Basilea, Suïssa)) ; Delaloge, S. (Gustave Roussy) ; Filieri, M.E. (University Hospital of Modena) ; Gerdes, A.M. (University of Copenhagen) ; Grindedal, E.M. (Oslo University Hospital (Oslo, Noruega)) ; Han, Suzette. (UZ Leuven) ; Johansson, Oskar. (Landspitali-the National University Hospital of Iceland) ; Kaufman, Bella. (Sheba Medical Center) ; Krajc, Mateja. (Institute of Oncology Ljubljana) ; Loman, Niklas. (Lund University Hospital) ; Olah, Edith. (National Institute of Oncology) ; Paluch-Shimon, Shani. (Shaare Zedek Medical Centre) ; Plavetic, Natalija Dedic (University of Zagreb) ; Pohlodek, Kamil. (Comenius University of Bratislava) ; Rhiem, Kerstin. (Uniklinik Köln (Colònia, Alemanya)) ; Teixeira, Manuel. (Portuguese Oncology Institute) ; Evans, D.Gareth. (University of Manchester) ; Universitat Autònoma de Barcelona
An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. [...]
2019 - 10.1016/j.ejca.2018.10.007
European journal of cancer, Vol. 106 (january 2019) , p. 54-60  
4.
8 p, 473.7 KB RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer / Cruz, C. (Vall d'Hebron Institut d'Oncologia) ; Castroviejo-Bermejo, M. (Experimental Therapeutics Group) ; Gutiérrez-Enríquez, S. (Oncogenetics Group) ; Llop-Guevara, A. (Experimental Therapeutics Group) ; Ibrahim, Y.H. (Experimental Therapeutics Group) ; Gris-Oliver, Albert. (Experimental Therapeutics Group) ; Bonache, S. (Oncogenetics Group) ; Morancho, Beatriz (Vall d'Hebron Institut d'Oncologia) ; Bruna, Alejandra (Cancer Research UK Cambridge Institute. University of Cambridge) ; Rueda, O.M. (Cancer Research UK Cambridge Institute. University of Cambridge) ; Lai, Z. (AstraZeneca (USA)) ; Polanska, U.M. (Cancer Research UK. Cambridge Institute) ; Jones, G.N. (Cancer Research UK. Cambridge Institute) ; Kristel, P. (The Netherlands Cancer Institute (NKI) (Netherlands)) ; de Bustos, L. (Experimental Therapeutics Group) ; Guzman, M. (Experimental Therapeutics Group) ; Rodríguez, O. (Experimental Therapeutics Group) ; Grueso, J. (Experimental Therapeutics Group) ; Montalban, G. (Oncogenetics Group) ; Caratù, Ginevra (Cancer Genomics Group) ; Mancuso, F. (Cancer Genomics Group) ; Fasani, R. (Vall d'Hebron Institut d'Oncologia) ; Jiménez, J. (Vall d'Hebron Institut d'Oncologia) ; Howat, W.J. (Cancer Research UK. Cambridge Institute) ; Dougherty, B. (AstraZeneca (USA)) ; Vivancos, A. (Cancer Genomics Group) ; Nuciforo, Paolo (Vall d'Hebron Institut d'Oncologia) ; Serres-Créixams, X. (Department of Radiology) ; Rubio Rodríguez, Isabel Teresa (Hospital Universitari Vall d'Hebron) ; Oaknin, A. (Vall d'Hebron Institut d'Oncologia) ; Cadogan, E. (Cancer Research UK. Cambridge Institute) ; Barrett, J.C. (AstraZeneca (USA)) ; Caldas, C. (NIHR Cambridge Biomedical Research Centre (Regne Unit)) ; Baselga Torres, Josep, 1959-2021, (Memorial Sloan Kettering Cancer Center) ; Saura, Cristina (Vall d'Hebron Institut d'Oncologia) ; Cortés, Javier (Vall d'Hebron Institut d'Oncologia) ; Arribas, Joaquín V. (Vicente) (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Jonkers, J. (Cancer Genomics Group) ; Diez, Orland (Hospital Universitari Vall d'Hebron) ; O'Connor, M.J. (Oncology Innovative Medicine and Early Development Biotech Unit. AstraZeneca (UK)) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Serra, Violeta (Vall d'Hebron Institut d'Oncologia)
BRCA1 and BRCA2 (BRCA1/2) -deficient tumors display impaired homologous recombination repair (HRR) and enhanced sensitivity to DNA damaging agents or to poly(ADP-ribose) polymerase (PARP) inhibitors (PARPi). [...]
2018 - 10.1093/annonc/mdy099
Annals of oncology, Vol. 29, Issue 5 (May 2018) , p. 1203-1210  
5.
10 p, 806.8 KB Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing / Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Digiovanni, Laura (University of Pennsylvania, Philadelphia, PA) ; Gaddam, Pragna (Memorial Sloan Kettering Cancer Center) ; Walsh, Michael F. (Memorial Sloan Kettering Cancer Center) ; Joseph, Vijai (Memorial Sloan Kettering Cancer Center) ; Stadler, Zsofia K. (Memorial Sloan Kettering Cancer Center) ; Nathanson, Katherine L. (University of Pennsylvania, Philadelphia, PA) ; Garber, Judy E. (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ; Couch, Fergus J. (Mayo Clinic, Rochester, MN) ; Offit, Kenneth (Memorial Sloan Kettering Cancer Center) ; Robson, Mark E. (Memorial Sloan Kettering Cancer Center) ; Domchek, Susan M. (University of Pennsylvania, Philadelphia, PA) ; Universitat Autònoma de Barcelona
Massively parallel sequencing allows simultaneous testing of multiple genes associated with cancer susceptibility. Guidelines are available for variant classification; however, interpretation of these guidelines by laboratories and providers may differ and lead to conflicting reporting and, potentially, to inappropriate medical management. [...]
2016 - 10.1200/JCO.2016.68.4316
Journal of Clinical Oncology, Vol. 34 (september 2016) , p. 4071-4078  
6.
2 p, 210.4 KB Implicacions ètiques dels gens BRCA1/2 / Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron)
De per si, la genètica és sinònim d'avenç, però també de dubtes ètics. Sobretot, pel que fa a la informació del patrimoni genètic dels individus i la problemàtica vinculada a la seva confidencialitat. [...]
Implicacions ètiques dels gens BRCA1/2 De per si, la genètica és sinònim d'avenç, però també de dubtes ètics. Sobretot, pel que fa a la informació del patrimoni genètic dels individus i la problemàtica vinculada a la seva confidencialitat. [...]

2009
UAB divulga, Juny 2009, p. 1-2
2 documentos

Documentos de investigación Encontrados 3 registros  
1.
101 p, 1.4 MB Utilidad clínica de la salpingo-ooforectomía bilateral profiláctica en la reducción de riesgo de cáncer de mama en el síndrome de cáncer de mama y ovario hereditario asociado a variantes patogénicas en BRCA1 o BRCA2 / Stjepanovic Djurasinovic, Neda ; Balmaña Gelpi, Judith, dir. ; Bosch Albareda, Francesc, dir.
L'evidència disponible respecte a l'associació de la salpingo-ooforectomia bilateral profilàctica (SOBP) i la reducció de risc de càncer de mama en portadores de BRCA1/2 és conflictiva, a causa de potencials biaixos metodològics en les anàlisis prèviament publicats. [...]
La evidencia disponible respecto a la asociación de la salpingo-ooforectomia bilateral profiláctica (SOBP) y la reducción de riesgo de cáncer de mama en portadoras de BRCA1/2 es conflictiva, debido a potenciales sesgos metodológicos en los análisis previamente publicados. [...]
There is conflicting evidence in the literature regarding the association of prophylactic bilateral salpingo-oophorectomy and breast cancer risk reduction in BRCA1/2 carriers, because of potential methodological issues of the previous analysis. [...]
Universitat Autònoma de Barcelona. Programa de Doctorat en Medicina.

2021  
2.
120 p, 1.1 MB Aplicación clínica de los paneles de genes de susceptibilidad al cáncer : caracterización de variantes en genes de riesgo e impacto psicológico / Esteban Marcos, Irene ; Balmaña Gelpí, Judith, dir. ; Surrallés i Calonge, Jordi, dir. ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
Introducción: Los paneles de genes en cáncer hereditario se están incorporando a la práctica clínica. Estos paneles pueden incluir genes asociados a distintos tipos de cáncer y con distintos niveles de riesgo. [...]
Introduction: Hereditary cancer panels are currently being incorporated into clinical practice. These panels can include genes associated with different types of cancer and different levels of risk. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2019.  
3.
132 p, 3.3 MB Development and validation of predictive model for identification of MLH1 and MSH2 mutation carriers in Lynch syndrome / Balmaña Gelpí, Judith ; Brunet, Joan (dir.) ; Baselga Torres, Josep, 1959-2021, dir. (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona. Departament de Medicina
Lynch syndrome is the most frequent hereditary colorectal cancer syndrome. It is estimated to account for 1-3% of all colorectal cancer patients and endometrial cancer patients14. Many studies have been published to attempt to address the prevalence of this syndrome and the heterogeneity is huge, mostly because population-based studies are few, geographical distribution of carriers may differ due to founder mutations, or studies may include testing of different type of mismatch repair (MMR) genes15-28. [...]
Bellaterra : Universitat Autònoma de Barcelona, 2010  

¿Le interesa recibir alertas sobre nuevos resultados de esta búsqueda?
Defina una alerta personal vía correo electrónico o subscríbase al canal RSS.