Resultados globales: 21 registros encontrados en 0.02 segundos.
Artículos, Encontrados 18 registros
Documentos de investigación, Encontrados 3 registros
Artículos Encontrados 18 registros  1 - 10siguiente  ir al registro:
1.
9 p, 213.6 KB Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations / Bancroft, Elizabeth K. (Institute of Cancer Research) ; Saya, Sibel (Institute of Cancer Research) ; Page, Elizabeth C. (Institute of Cancer Research) ; Myhill, Kathryn (Institute of Cancer Research) ; Thomas, Sarah (Institute of Cancer Research) ; Pope, Jennifer (Institute of Cancer Research) ; Chamberlain, Anthony (Institute of Cancer Research) ; Hart, Rachel (Birmingham Women's Hospital) ; Glover, Wayne (Birmingham Women's Hospital) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Rosario, Derek J. (Royal Hallamshire Hospital) ; Helfand, Brian T. (NorthShore University HealthSystem) ; Hutten Selkirk, Christina (NorthShore University HealthSystem) ; Davidson, Rosemarie (Queen Elizabeth University Hospital) ; Longmuir, Mark (Queen Elizabeth University Hospital) ; Eccles, Diana M. (University of Southampton) ; Gadea, Neus (Hospital Universitari Vall d'Hebron) ; Brewer, Carole (Royal Devon and Exeter Hospital) ; Barwell, Julian (University Hospitals Leicester) ; Salinas, Monica (Hospital Universitari de Bellvitge) ; Greenhalgh, Lynn (Liverpool Women's Hospital) ; Tischkowitz, Marc (University of Cambridge) ; Henderson, Alex (Newcastle upon Tyne Hospitals) ; Evans, David Gareth (Central Manchester University Hospitals NHS Foundation Trust) ; Buys, Saundra S. (University of Utah Health) ; Eeles, Rosalind A. (Institute of Cancer Research) ; Aaronson, Neil K (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Capellá, G. (Gabriel) (Hospital Universitari de Bellvitge) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Mora Brugués, Josefina (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Esquena, Salvador (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Morote Robles, Juan (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. [...]
2019 - 10.1111/bju.14412
BJU International, Vol. 123 Núm. 2 (february 2019) , p. 284-292  
2.
11 p, 1.1 MB Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients / Pena-Couso, Laura (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya). Familial Cancer Clinical Unit) ; Ercibengoa Arana, Maria (Respiratory Infection and Antimicrobial Resistance Group. Infectious Diseases Area. BioDonostia; Microbiology Department. Osakidetza Basque Health Service. Donostialdea Integrated Health Organization) ; Mercadillo, Fátima (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Gómez-Sánchez, David (Clinical and Translational Lung Cancer Research Unit. i+12 Research Institute and Biomedical Research Networking Center in Oncology (CIBERONC)) ; Inglada-Pérez, Lucia (Biostatistics Unit. Statistics and Operational Research Department. Faculty of Medicine. Complutense University of Madrid) ; Santos, Maria Lucia S.F. (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Lanillos, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Gutiérrez-Abad, David (Medical Oncology Service. University Hospital of Fuenlabrada) ; Hernández, Almudena (Dermatology Service. University Hospital of Fuenlabrada) ; Carbonell, Pablo (Biochemistry and Clinical Genetics Centre. Virgen Arrixaca University Hospital) ; Letón, Rocío (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Rodriguez-Antona, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Perea García, José (Health Research Institute-Fundación Jiménez Díaz University Hospital) ; Urioste, Miguel (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Alonso, Miguel Ángel (Virgen del Camino Hospital) ; Andrés, Raquel (0000-0002-0762-6415) ; Arévalo, Sara (Hospital of Donostia) ; Arias, Maria del Mar (Virgen del Camino Hospital) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Beristain, Elena (Txagorritxu Hospital) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; Boronat, Mauro (Hospital of Gran Canaria) ; Brunet, Joan (Institut Català d'Oncologia) ; Cózar-León, Victoria (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Díaz, Arantza (Móstoles Hospital) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Barcina, María Jesús (Hospital de Basurto (Bilbao, Biscaia)) ; González, Margarita (Can Misses Hospital) ; Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Hernán, Imma (Terrassa Hospital) ; Hernández, Héctor Salvador (Sant Joan de Déu Hospital) ; Hernando, Susana (Alcorcón Hospital) ; Lacambra, Carmen (Severo Ochoa Hospital) ; Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ; Lastra, Enrique (Hospital of Burgos) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; del Rosario Marín, Maria (Puerta del Mar Hospital) ; Marrupe, David (Móstoles Hospital) ; Martínez, Francisco (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Martínez, Victor (La Paz Hospital) ; Martorell, Loreto (Sant Joan de Déu Hospital) ; Orera, Maria (Gregorio Marañón Hospital) ; Pedrinaci, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ; Pérez, Pedro (San Carlos Hospital) ; Pineda, Marta (Institut Català d'Oncologia) ; Plasencia, Ana Maria (Asturias Central Hospital) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Robles, Luis ; Rodà, Diana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Rodríguez, Nuria (La Paz Hospital) ; Rosell Andreo, Jordi (Son Dureta Hospital) ; Sáez, Raquel (Hospital of Donostia) ; Salvat, Monica (Sant Joan de Reus) ; Sánchez, Antonio (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Santana, Alfredo (Hospital of Gran Canaria) ; Soto, Jose Luis (General Hospital of Elche) ; Toll, Agustin (Del Mar Hospital) ; Tuneu, Anna (Hospital of Donostia) ; Vázquez, Carlos (Hospital of Gran Canaria)
Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. [...]
2022 - 10.1186/s13023-021-02079-7
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 85  
3.
16 p, 1.2 MB Hereditary leiomyomatosis and renal cell cancer syndrome in spain : Clinical and genetic characterization / Sánchez-Heras, A.Beatriz (Hospital General Universitario de Elche) ; Castillejo, Adela (Hospital General Universitario de Elche) ; García-Díaz, Juan D. (Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid)) ; Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Teulé, Alexandre (Hospital Universitari de Bellvitge) ; Sánchez, Rosario (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Zúñiga, Ángel (Hospital Universitari i Politècnic La Fe (València)) ; Lastra, Enrique (Hospital Universitario de Burgos) ; Durán, Mercedes (Instituto de Biología y Genética Molecular (IBGM-UVA-CSIC)) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Yagüe, Carmen (Consorci Sanitari de Terrassa) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; López San Martin, Consol (Institut d'Investigació Biomèdica Sant Pau) ; López-Fernández, Adrià (Hospital Universitari Vall d'Hebron) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Robles, Luis (Hospital 12 de Octubre (Madrid)) ; Mesa-Latorre, José M. (Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid)) ; Chirivella, Isabel (Universitat de València) ; Fonfria, María (Consorci Hospitalari Provincial de Castelló) ; Ibañez, Raquel Perea (Hospital General Universitario de Elche) ; Castillejo, M.Isabel (Hospital General Universitario de Elche) ; Escandell, Inés (Hospital General Universitario de Elda) ; Gomez, Luis (Hospital Universitario Sant Joan de Alicante) ; Berbel, Pere (Universidad Miguel Hernández de Elche) ; Soto, Jose Luis (Hospital General Universitario de Elche) ; Universitat Autònoma de Barcelona
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). [...]
2020 - 10.3390/cancers12113277
Cancers, Vol. 12 Núm. 11 (november 2020) , p. 1-16  
4.
12 p, 1.7 MB Role of POLE and POLD1 in familial cancer / Mur, Pilar (Centro de Investigación Biomédica en Red de Cáncer) ; García-Mulero, Sandra (Hospital Universitari de Bellvitge) ; del Valle, Jesús (Centro de Investigación Biomédica en Red de Cáncer) ; Magraner-Pardo, Lorena (Spanish National Cancer Research Center (CNIO)) ; Vidal, August (Hospital Universitari de Bellvitge) ; Pineda, Marta (Centro de Investigación Biomédica en Red de Cáncer) ; Cinnirella, Giacomo (Hospital Universitari de Bellvitge) ; Martín-Ramos, Edgar (Universitat de Barcelona) ; Pons, Tirso (Consell Superior d'Investigacions Científiques) ; López-Doriga, Adriana (Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP)) ; Belhadj, Sami (Hospital Universitari de Bellvitge) ; Feliubadaló, Lidia (Centro de Investigación Biomédica en Red de Cáncer) ; Munoz-Torres, Pau M. (Hospital Universitari de Bellvitge) ; Navarro, Matilde (Centro de Investigación Biomédica en Red de Cáncer) ; Grau, Elia (Hospital Universitari de Bellvitge) ; Darder, Esther (Institut Català d'Oncologia) ; Llort, Gemma (Consorci Sanitari de Terrassa) ; Sanz, Judit (Althaia Xarxa Assistencial Universitària de Manresa) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Brunet, Joan (Institut Català d'Oncologia) ; Moreno, Víctor (Universitat de Barcelona) ; Piulats, Josep M. (Hospital Universitari de Bellvitge) ; Matías-Guiu, Xavier (Hospital Universitari de Bellvitge) ; Sanz-Pamplona, Rebeca (Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP)) ; Aligué, Rosa (Universitat de Barcelona) ; Capellá, G. (Gabriel) (Centro de Investigación Biomédica en Red de Cáncer) ; Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer) ; Valle, Laura (Centro de Investigación Biomédica en Red de Cáncer) ; Universitat Autònoma de Barcelona
Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC), endometrial tumors, and other malignancies, and exhibit increased mutation rate and highly specific associated mutational signatures. [...]
2020 - 10.1038/s41436-020-0922-2
Genetics in medicine, Vol. 22 Núm. 12 (december 2020) , p. 2089-2100  
5.
8 p, 823.8 KB SEOM clinical guidelines in hereditary breast and ovarian cancer (2019) / González-Santiago, S. (Hospital Universitario San Pedro de Alcántara) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Aguirre, Elena (Hospital Quirónsalud) ; Alés-Martínez, J.E. (Hospital Nuestra Señora de Sonsoles (Àvila)) ; Andrés, R. (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Graña, B. (Complexo Hospitalario Universitario (CHUAC)) ; Herrero, A. (Hospital Universitario Miguel Servet (Saragossa)) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; González-del-Alba, A. (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; the SEOM Hereditary Cancer Working Group ; Universitat Autònoma de Barcelona
Mutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian cancer families by 50%. [...]
2020 - 10.1007/s12094-019-02262-0
Clinical & Translational Oncology, Vol. 22 Núm. 2 (january 2020) , p. 193-200  
6.
25 p, 1.8 MB Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals / Dámaso, Estela (Hospital Universitari de Bellvitge) ; González-Acosta, Maribel (Hospital Universitari de Bellvitge) ; Vargas-Parra, Gardenia (Hospital Universitari de Bellvitge) ; Navarro, Matilde (Hospital Universitari de Bellvitge) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Tuset, N. (Hospital Arnau de Vilanova (València)) ; Thompson, B.A. (University of Melbourne) ; Marín, Fátima (Hospital Universitari de Bellvitge) ; Fernández, Anna (Hospital Universitari de Bellvitge) ; Gómez, Carolina (Hospital Universitari de Bellvitge) ; Velasco, À. (Institut d'Investigació Biomèdica (Girona)) ; Solanes, Ares (Hospital Universitari de Bellvitge) ; Iglesias, Sílvia (Hospital Universitari de Bellvitge) ; Urgel, G. (Hospital Arnau de Vilanova (València)) ; López, Consol (Institut d'Investigació Biomèdica Sant Pau) ; Valle, Jesus Del (Hospital Universitari de Bellvitge) ; Campos, Olga (Hospital Universitari de Bellvitge) ; Santacana, M. (Institut de Recerca Biomèdica de Lleida (IRB Lleida)) ; Matías-Guiu, Xavier (Hospital Universitari de Bellvitge) ; Lazaro Garcia, Conxi (Hospital Universitari de Bellvitge) ; Valle, Laura (Hospital Universitari de Bellvitge) ; Brunet, Joan (Hospital Universitari de Bellvitge) ; Pineda, Marta (Hospital Universitari de Bellvitge) ; Capellá, G. (Gabriel) (Hospital Universitari de Bellvitge) ; Universitat Autònoma de Barcelona
The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR) deficiency in LLS patients throughout a comprehensive (epi)genetic analysis. [...]
2020 - 10.3390/cancers12071799
Cancers, Vol. 12 Núm. 7 (july 2020) , p. 1-32  
7.
7 p, 8.6 MB Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia / Errazquin, Ricardo (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Page, Angustias (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Suñol, Anna (Grup de Genètica del Càncer Hereditari. Servei d'Oncologia Mèdica. VHIO) ; Segrelles, Carmen (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Carrasco, Estela (Grup de Genètica del Càncer Hereditari. Servei d'Oncologia Mèdica. VHIO) ; Peral, Jorge (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Garrido-Aranda, Alicia (Centro de Investigaciones Médico-Sanitarias (CIMES)) ; Del Marro, Sonia (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Ortiz, Jessica (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Lorz, Corina (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Minguillon, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Belendez, Cristina (Instituto Investigación Sanitaria Gregorio Marañón) ; Álvarez, Martina (Centro de Investigaciones Médico-Sanitarias (CIMES)) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Bravo, Ana (Departamento de Anatomía. Producción Animal y Ciencias Clínicas Veterinarias. Laboratorio de Fenotipado de Patología de Ratones Genéticamente Modificados. Facultad de Medicina Veterinaria. Universidad de Santiago de Compostela) ; Ramirez, Angel (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Garcia-Escudero, Ramon (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ; Universitat Autònoma de Barcelona
Fanconi anemia (FA) patients frequently develop oral squamous cell carcinoma (OSCC). This cancer in FA patients is diagnosed within the first 3-4 decades of life, very often preceded by lesions that suffer a malignant transformation. [...]
2022 - 10.1016/j.oraloncology.2022.106184
Oral Oncology, Vol. 134 (november 2022) , p. 106184  
8.
9 p, 1.9 MB Clinical consequences of BRCA2 hypomorphism / Castells-Roca, Laia (Institut d'Investigació Biomèdica Sant Pau) ; Gutiérrez-Enríquez, Sara (Vall d'Hebron Institut d'Oncologia) ; Bonache, Sandra (Vall d'Hebron Institut d'Oncologia) ; Bogliolo, Massimo (Institut d'Investigació Biomèdica Sant Pau) ; Carrasco, E. (Vall d'Hebron Institut d'Oncologia) ; Aza-Carmona, Miriam (Institut d'Investigació Biomèdica Sant Pau) ; Montalban, G. (CHU de Québec - Université Laval Research Center. Oncology division) ; Muñoz-Subirana, N. (Institut d'Investigació Biomèdica Sant Pau) ; Pujol, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Cruz Zambrano, Cristina (Vall d'Hebron Institut d'Oncologia) ; Llop-Guevara, A. (Vall d'Hebron Institut d'Oncologia) ; Ramírez de Haro, Ma. José (Institut d'Investigació Biomèdica Sant Pau) ; Saura, Cristina (Vall d'Hebron Institut d'Oncologia) ; Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ; Serra, V. (Vall d'Hebron Institut d'Oncologia) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
The tumor suppressor FANCD1/BRCA2 is crucial for DNA homologous recombination repair (HRR). BRCA2 biallelic pathogenic variants result in a severe form of Fanconi anemia (FA) syndrome, whereas monoallelic pathogenic variants cause mainly hereditary breast and ovarian cancer predisposition. [...]
2021 - 10.1038/s41523-021-00322-9
NPJ breast cancer, Vol. 7 Núm. 1 (december 2021) , p. 117  
9.
19 p, 3.3 MB Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers / Shah, Jennifer B. (University of Pennsylvania) ; Pueschl, Dana (University of Pennsylvania) ; Wubbenhorst, Bradley (University of Pennsylvania) ; Fan, Mengyao (University of Pennsylvania) ; Pluta, John (University of Pennsylvania) ; D'Andrea, Kurt (University of Pennsylvania) ; Hubert, Anna P. (University of Pennsylvania) ; Shilan, Jake S. (University of Pennsylvania) ; Zhou, Wenting (University of Pennsylvania) ; Kraya, Adam A. (University of Pennsylvania) ; Llop Guevara, Alba (Vall d'Hebron Institut d'Oncologia) ; Ruan, Catherine (University of Pennsylvania. Perelman School of Medicine) ; Serra, Violeta (Vall d'Hebron Institut d'Oncologia) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Feldman, Michael (University of Pennsylvania) ; Morin, Pat J. (University of Pennsylvania) ; Nayak, Anupma (University of Pennsylvania) ; Maxwell, Kara N. (University of Pennsylvania) ; Domchek, Susan M. (University of Pennsylvania) ; Nathanson, Katherine L. (University of Pennsylvania) ; Universitat Autònoma de Barcelona
Recurrence is a major cause of death among BRCA1/2 mutation carriers with breast (BrCa) and ovarian cancers (OvCa). Herein we perform multi-omic sequencing on 67 paired primary and recurrent BrCa and OvCa from 27 BRCA1/2 mutation carriers to identify potential recurrence-specific drivers. [...]
2022 - 10.1038/s41467-022-34523-y
Nature communications, Vol. 13 (november 2022)  
10.
13 p, 765.7 KB Male breast cancer in BRCA1 and BRCA2 mutation carriers : pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 / Silvestri, Valentina (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Barrowdale, Daniel (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada) ; Neuhausen, Susan L. (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ; Fox, Stephen (Peter MacCallum Cancer Institute, East Melbourne, Australia) ; Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Mitchell, Gillian (Department of Oncology, The University of Melbourne, Melbourne, VIC Australia) ; James, Paul (Department of Oncology, The University of Melbourne, Melbourne, VIC Australia) ; Thull, Darcy L. (University of Pittsburgh School of Medicine, Pittsburgh, PA USA) ; Zorn, Kristin K. (University of Pittsburgh School of Medicine, Pittsburgh, PA USA) ; Carter, Natalie J. (UPMC Cancer Center, Pittsburgh, PA USA) ; Nathanson, Katherine L. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA USA) ; Domchek, Susan M. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA USA) ; Rebbeck, Timothy R. (Department of Epidemiology and Biostatistics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA) ; Ramus, Susan J. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA USA) ; Nussbaum, Robert L. (Department of Medicine and Genetics, University of California, San Francisco, San Francisco, CA USA) ; Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, IL USA) ; Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Yoon, Sook-Yee (University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya, Kuala Lumpur, Malaysia) ; Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ; Spugnesi, Laura (University Hospital of Pisa (Pisa, Itàlia)) ; Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark) ; Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ; Toland, Amanda Ewart (Department of Molecular Virology, Immunology and Medical Genetics, College of Medicine, The Ohio State University, Columbus, OH USA) ; Senter, Leigha (Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH USA) ; Andrulis, Irene L. (Department of Molecular Genetics, University of Toronto, Toronto, ON Canada) ; Glendon, Gord (Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON Canada) ; Hulick, Peter J. (Center for Medical Genetics, North Shore University Health System, Evanston, IL USA) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology, St. Petersburg, Russia) ; Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA) ; Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA) ; Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Rappaport-Fuerhauser, Christine (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Kramer, Gero (Department of Urology, Medical University of Vienna, Vienna, Austria) ; Vijai, Joseph (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Offit, Kenneth (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Robson, Mark (Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Lincoln, Anne (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Jacobs, Lauren (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Machackova, Eva (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ; Foretova, Lenka (Masaryk Memorial Cancer Institute and Faculty of Medicine, Masaryk University, Brno, Czech Republic) ; Navratilova, Marie (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ; Vasickova, Petra (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ; Couch, Fergus J. (Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA) ; Hallberg, Emily (Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA) ; Ruddy, Kathryn J. (Department of Oncology, Mayo Clinic, Rochester, MN USA) ; Sharma, Priyanka (Department of Hematology and Oncology, University of Kansas Medical Center, Kansas City, KS USA) ; Kim, Sung-Won (Department of Surgery, Daerim St. Mary's Hospital, Seoul, Korea) ; Teixeira, Manuel R. (Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal) ; Pinto, Pedro (Department of Genetics, Portuguese Institute of Oncology, Porto, Portugal) ; Montagna, Marco (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Matricardi, Laura (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Arason, Adalgeir (Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland) ; Johannsson, Oskar Th (Landspitali University Hospital (Reykjavík, Islàndia)) ; Barkardottir, Rosa B. (Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland) ; Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Izquierdo, Angel (Institut Català d'Oncologia) ; Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Ivady, Gabriella (Department of Pathology, National Institute of Oncology, Budapest, Hungary) ; Papp, Janos (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ; Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ; Kwong, Ava (Department of Surgery, The University of Hong Kong, Hong Kong, China) ; Nevanlinna, Heli (Helsinki University Hospital (Finlàndia)) ; Aittomäki, Kristiina (Helsinki University Hospital (Finlàndia)) ; Pérez-Segura, Pedro (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Van Maerken, Tom (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Isaacs, Claudine (Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA) ; Elan, Camille (Department of Tumour Biology, Institut Curie, Paris, France) ; Lasset, Christine (Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ; Barjhoux, Laure (INSERM U1052, CNRS UMR5286, Centre de Recherche en Cancérologie de Lyon, Université Lyon, Lyon, France) ; Belotti, Muriel (Department of Tumour Biology, Institut Curie, Paris, France) ; Meindl, Alfons (Department of Gynaecology and Obstetrics, Technical University of Munich, Munich, Germany) ; Gehrig, Andrea (Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany) ; Sutter, Christian (Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany) ; Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Leipzig, Germany) ; Niederacher, Dieter (University of Dusseldorf, Dusseldorf, Germany) ; Steinemann, Doris (Hannover Medical School, Hannover, Germany) ; Hahnen, Eric (Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany) ; Kast, Karin (Department of Gynecology and Obstetrics, Technical University of Dresden, Dresden, Germany) ; Arnold, Norbert (Department of Gynaecolgy and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts-University of Kiel, Kiel, Germany) ; Varon-Mateeva, Raymonda (Institute of Human Genetics, Charité, Berlin, Germany) ; Wand, Dorothea (Institute of Human Genetics, Leipzig, Germany) ; Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS USA) ; Evans, Gareth (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK) ; Frost, Debra (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Perkins, Jo (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, UK) ; Izatt, Louise (Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK) ; Platte, Radka (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, UK) ; Eeles, Ros (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany) ; Ellis, Steve (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Hamann, Ute (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany) ; Garber, Judy (Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA USA) ; Fostira, Florentia (Molecular Diagnostics Laboratory, Institute of Nuclear and Radiological Sciences and Technology (INRASTES), National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis, Athens, Greece) ; Fountzilas, George (Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece) ; Pasini, Barbara (AO Città della Salute e della Scienza, Turin, Italy) ; Giannini, Giuseppe (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Rizzolo, Piera (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Russo, Antonio (Section of Medical Oncology, Department of Surgical and Oncological Sciences, University of Palermo, Palermo, Italy) ; Cortesi, Laura (Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy) ; Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy) ; Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Scientific Institute of Hospitalization and Care), AOU San Martino - IST National Institute for Cancer Research, Genoa, Italy) ; Palli, Domenico (Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy) ; Zanna, Ines (Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy) ; Savarese, Antonella (Unit of Genetic Counselling, Medical Oncology Department, Regina Elena National Cancer Institute, Rome, Italy) ; Radice, Paolo (Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), 20133 Milan, Italy) ; Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy) ; Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy) ; Barile, Monica (Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy) ; Bonanni, Bernardo (Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy) ; Viel, Alessandra (Division of Experimental Oncology, CRO Aviano National Cancer Institute, Aviano, PN Italy) ; Pensotti, Valeria (Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Tommasi, Stefania (National Cancer Institute "Giovanni Paolo II", Bari, Italy) ; Peterlongo, Paolo (IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA) ; Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ; McGuffog, Lesley (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Healey, Sue (Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia) ; Gerdes, Anne-Marie (Copenhagen University Hospital Rigshospitalet) ; Ejlertsen, Bent (Copenhagen University Hospital Rigshospitalet) ; Hansen, Thomas V. O. (Copenhagen University Hospital Rigshospitalet) ; Steele, Linda (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ; Ding, Yuan Chun (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ; Tung, Nadine (Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA USA) ; Janavicius, Ramunas (State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania) ; Goldgar, David E. (Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA) ; Buys, Saundra (Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA) ; Daly, Mary B. (Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA USA) ; Bane, Anita (Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, Hamilton, ON Canada) ; Terry, Mary Beth (Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY USA) ; John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, CA USA) ; Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia) ; Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Chenevix-Trench, Georgia (Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia) ; Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Ottini, Laura (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Universitat Autònoma de Barcelona
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. [...]
2016 - 10.1186/s13058-016-0671-y
Breast cancer research, Vol. 18 (february 2016)  

Artículos : Encontrados 18 registros   1 - 10siguiente  ir al registro:
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 Gelpí, 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. [...]

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  

Vea también: autores con nombres similares
2 Balmana, J.
2 Balmaña, J.
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