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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients
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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
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Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
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Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge) ;
Kuchenbaecker, Karoline (University of Cambridge) ;
Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge) ;
Wang, Xianshu (Mayo Clinic, Rochester, United States of America) ;
Barrowdale, Daniel (University of Cambridge) ;
de Garibay, Gorka Ruiz (Institut d'Investigació Biomèdica de Bellvitge) ;
Librado, Pablo (Universitat de Barcelona) ;
Sánchez-Gracia, Alejandro (Universitat de Barcelona) ;
Rozas, Julio (Universitat de Barcelona) ;
Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge) ;
McGuffog, Lesley (University of Cambridge) ;
Pankratz, Vernon S. (Mayo Clinic, Rochester, Minnesota) ;
Islam, Abul (University of Dhaka) ;
Mateo, Francesca (Institut d'Investigació Biomèdica de Bellvitge) ;
Berenguer-Llergo, Antoni (Institut d'Investigació Biomèdica de Bellvitge) ;
Petit Montserrat, Anna (Institut d'Investigació Biomèdica de Bellvitge) ;
Català, Isabel (Institut d'Investigació Biomèdica de Bellvitge) ;
Brunet, Joan (Institut d'Investigació Biomèdica de Girona) ;
Feliubadaló, Lidia (Institut d'Investigació Biomèdica de Bellvitge) ;
Tornero, Eva (Institut d'Investigació Biomèdica de Bellvitge) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ;
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Aittomäki, Kristiina (Helsinki University Central Hospital) ;
Arun, Banu K. (University of Texas) ;
Toland, Amanda E. (The Ohio State University, Columbus) ;
Karlan, Beth Y. (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles) ;
Walsh, Christine (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles) ;
Lester, Jenny (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles) ;
Greene, Mark H. (National Cancer Institute, Maryland, Rockville) ;
Mai, Phuong L. (National Cancer Institute, Maryland, Rockville) ;
Nussbaum, Robert L. (University of California San Francisco, San Francisco) ;
Andrulis, Irene L. (Samuel Lunenfeld Research Institute, Mount Sinai Hospital, and Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada) ;
Domchek, Susan M. (The University of Pennsylvania School of Medicine, Philadelphia) ;
Nathanson, Katherine L. (The University of Pennsylvania School of Medicine, Philadelphia) ;
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) ;
Barkardottir, Rosa B. (Landspitali University Hospital (Reykjavík, Islàndia)) ;
Jakubowska, Anna (Pomeranian Medical University, Szczecin) ;
Lubinski, Jan (Pomeranian Medical University, Szczecin) ;
Durda, Katarzyna (Pomeranian Medical University, Szczecin) ;
Jaworska-Bieniek, Katarzyna (Pomeranian Medical University, Szczecin) ;
Claes, Kathleen (Ghent University, Ghent) ;
Van Maerken, Tom (Ghent University, Ghent) ;
Diez, Orland (Vall d'Hebron Institut d'Oncologia) ;
Hansen, Thomas V. (Copenhagen University Hospital) ;
Jønson, Lars (Copenhagen University Hospital) ;
Gerdes, Anne-Marie (Copenhagen University Hospital) ;
Ejlertsen, Bent (Copenhagen University Hospital) ;
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Dunning, Alison M. (University of Cambridge) ;
Oliver, Clare (University of Cambridge) ;
Fineberg, Elena (University of Cambridge) ;
Cook, Margaret (University of Cambridge) ;
Peock, Susan (University of Cambridge) ;
McCann, Emma (Glan Clwyd Hospital, Rhyl) ;
Murray, Alex (Singleton Hospital, Swansea) ;
Jacobs, Chris (Guy's and St. Thomas' National Health Service, London) ;
Pichert, Gabriella (Guy's and St. Thomas' National Health Service, London) ;
Lalloo, Fiona (Central Manchester University Hospitals National Health Service, Manchester) ;
Chu, Carol (Yorkshire Regional Genetics Service, Leeds) ;
Dorkins, Huw (Kennedy-Galton Centre, Harrow) ;
Paterson, Joan (Addenbrookes Hospital (Cambridge, Regne Unit)) ;
Ong, Kai-Ren (Birmingham Women's Hospital) ;
Teixeira, Manuel R. (Universidade do Porto) ;
Hogervorst, Frans B. L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
van der Hout, Annemarie H. (University of Groningen) ;
Seynaeve, Caroline (Erasmus University Medical Center, Rotterdam) ;
van der Luijt, Rob B. (University Medical Center Utrecht, Utrecht) ;
Ligtenberg, Marjolijn J. L. (Radboud university medical center, Nijmegen) ;
Devilee, Peter (Leiden University Medical Center, Leiden) ;
Wijnen, Juul T. (Leiden University Medical Center, Leiden) ;
Rookus, Matti A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Meijers-Heijboer, Hanne E. J. (Vrije Universiteit, Amsterdam) ;
Blok, Marinus J. (Maastricht University Medical Center) ;
van den Ouweland, Ans M. W. (Erasmus University Medical Center, Rotterdam) ;
Aalfs, Cora M. (Department of Clinical Genetics, Amsterdam) ;
Rodriguez, Gustavo C. (University of Chicago) ;
Phillips, Kelly-Anne A. (Peter MacCallum Cancer Centre, East Melbourne) ;
Piedmonte, Marion (Roswell Park Cancer Institute, Buffalo, New York) ;
Nerenstone, Stacy R. (Hartford Hospital/Helen and Harry Gray Cancer Center) ;
Bae-Jump, Victoria L. (University of North Carolina) ;
O'Malley, David M. (Ohio State University, Hilliard) ;
Ratner, Elena S. (Yale University School of Medicine) ;
Schmutzler, Rita K. (Uniklinik Köln (Colònia, Alemanya)) ;
Wappenschmidt, Barbara (Uniklinik Köln (Colònia, Alemanya)) ;
Rhiem, Kerstin (University Hospital of Cologne, Cologne, Germany) ;
Engel, Christoph (University of Leipzig) ;
Meindl, Alfons (Technical University Munich) ;
Ditsch, Nina (Ludwig-Maximilian University Munich) ;
Arnold, Norbert (Kiel University Medical Center Schleswig-Holstein) ;
Plendl, Hansjoerg J. (Kiel University Medical Center Schleswig-Holstein) ;
Niederacher, Dieter (University Hospital of Düsseldorf (Alemanya)) ;
Sutter, Christian (Heidelberg University Hospital (Alemanya)) ;
Wang-Gohrke, Shan (University Hospital of Ulm (Alemanya)) ;
Steinemann, Doris (Institute of Cell and Molecular Pathology, Hannover) ;
Preisler-Adams, Sabine (University of Münster) ;
Kast, Karin (Technical University Dresden) ;
Varon-Mateeva, Raymonda (Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin) ;
Gehrig, Andrea (Centre of Familial Breast and Ovarian Cancer, Institute of Human Genetics, University Würzburg, Würzburg, Germany) ;
Bojesen, Anders (Vejle Hospital, Vejle) ;
Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca)) ;
Sunde, Lone (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Thomassen, Mads (Odense University Hospital (Dinamarca)) ;
Kruse, Torben A. (Odense University Hospital (Dinamarca)) ;
Foretova, Lenka (Masaryk Memorial Cancer Institute (Brno, República Txeca)) ;
Peterlongo, Paolo (Fondazione Istituto di Oncologia MolecolarE, Milan) ;
Bernard, Loris (Istituto Europeo di Oncologia, Milan) ;
Peissel, Bernard (Fondazione Istituto Nazionale Tumori, Milan) ;
Scuvera, Giulietta (Fondazione Istituto Nazionale Tumori, Milan) ;
Manoukian, Siranoush (Fondazione Istituto Nazionale Tumori, Milan) ;
Radice, Paolo (Fondazione Istituto Nazionale Tumori, Milan) ;
Ottini, Laura ("Sapienza" University, Rome) ;
Montagna, Marco (Istituto Oncologico Veneto, Padua) ;
Agata, Simona (Istituto Oncologico Veneto, Padua) ;
Maugard, Christine (Hopitaux Universitaire de Strasbourg) ;
Simard, Jacques (Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City) ;
Soucy, Penny (Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City) ;
Berger, Andreas (Medical University of Vienna) ;
Fink-Retter, Anneliese (Medical University of Vienna) ;
Singer, Christian F. (Medical University of Vienna) ;
Rappaport, Christine (Medical University of Vienna) ;
Geschwantler-Kaulich, Daphne (Medical University of Vienna) ;
Tea, Muy-Kheng (Medical University of Vienna) ;
Pfeiler, Georg (Medical University of Vienna) ;
John, Esther M. (Cancer Prevention Institute of California) ;
Miron, Alex (Dana-Farber Cancer Institute, Boston, Massachusetts) ;
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica)) ;
Terry, Mary Beth (Columbia University) ;
Chung, Wendy (Columbia University) ;
Daly, Mary B. (Fox Chase Cancer Center, Philadelphia, Pennsylvania) ;
Goldgar, David E. (University of Utah School of Medicine, Salt Lake City) ;
Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics) ;
Dorfling, Cecilia M. (University of Pretoria, Arcadia) ;
van Rensburg, Elisabeth J. (University of Pretoria, Arcadia) ;
Fostira, Florentia (National Centre for Scientific Research Demokritos, Athens) ;
Konstantopoulou, Irene (National Centre for Scientific Research Demokritos, Athens) ;
Garber, Judy (Harvard Medical School, Boston) ;
Godwin, Andrew K. (University of Kansas Medical Center, Kansas City) ;
Olah, Edith (National Institute of Oncology, Budapest) ;
Narod, Steven A. (University of Toronto) ;
Rennert, Gad (Clalit National Israeli Cancer Control Center) ;
Paluch, Shani Shimon (Chaim Sheba Medical Center, Ramat Gan) ;
Laitman, Yael (Institute of Human Genetics, Ramat Gan) ;
Friedman, Eitan (Tel Aviv University, Ramat Aviv) ;
Liljegren, Annelie (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Stenmark-Askmalm, Marie (Linköping University, Sweeden) ;
Loman, Niklas (Lund University Hospital, Sweeden) ;
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology, St.-Petersburg) ;
Hamann, Ute (German Cancer Research Center (DKFZ), Heidelberg) ;
Spurdle, Amanda B. (Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane) ;
Healey, Sue (Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane) ;
Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope, Duarte, California) ;
Herzog, Josef (Clinical Cancer Genetics, City of Hope, Duarte, California) ;
Margileth, David (St. Joseph Hospital of Orange, Duarte, California) ;
Gorrini, Chiara (University Health Network, Toronto) ;
Esteller, M (Institució Catalana de Recerca i Estudis Avançats) ;
Gómez Moruno, Antonio (Institut d'Investigació Biomèdica de Bellvitge) ;
Sayols, Sergi (Institut d'Investigació Biomèdica de Bellvitge) ;
Vidal, Enrique (Institut d'Investigació Biomèdica de Bellvitge) ;
Heyn, Holger (Institut d'Investigació Biomèdica de Bellvitge) ;
Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ;
Léoné, Melanie (Hospices Civils de Lyon-Centre Léon Bérard, Lyon) ;
Barjhoux, Laure (Université Lyon 1) ;
Fassy-Colcombet, Marion (Institut Curie, Paris) ;
De Pauw, Antoine (Institut Curie, Paris) ;
Lasset, Christine (Université Lyon 1) ;
Ferrer, Sandra Fert (Hôtel Dieu Centre Hospitalier, Chambéry) ;
Castera, Laurent (Department of Tumour Biology, Institut Curie, Paris) ;
Berthet, Pascaline (Centre François Baclesse, Caen, France) ;
Cornelis, François (Genetic Unit, Avicenne Hospital, Clermont-Ferrand) ;
Bignon, Yves-Jean (Université de Clermont-Ferrand) ;
Damiola, Francesca (Centre de Recherche en Cancérologie de Lyon) ;
Mazoyer, Sylvie (Centre de Recherche en Cancérologie de Lyon) ;
Sinilnikova, Olga M. (Centre de Recherche en Cancérologie de Lyon) ;
Maxwell, Christopher A. (University of British Columbia, Vancouver) ;
Vijai, Joseph (Memorial Sloan-Kettering Cancer Center, New York) ;
Robson, Mark (Memorial Sloan-Kettering Cancer Center, New York) ;
Kauff, Noah (Memorial Sloan-Kettering Cancer Center, New York) ;
Corines, Marina (Memorial Sloan-Kettering Cancer Center, New York) ;
Villano, Danylko (Memorial Sloan-Kettering Cancer Center, New York) ;
Cunningham, Julie M. (Mayo Clinic, Rochester, Minnesota, United States of America) ;
Lee, Adam (Mayo Clinic, Rochester, Minnesota) ;
Lindor, Noralane (Mayo Clinic, Scottsdale, Arizona) ;
Lázaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ;
Easton, Douglas F. (University of Cambridge) ;
Offit, Kenneth (Memorial Sloan-Kettering Cancer Center, New York) ;
Chenevix-Trench, Georgia (Queensland Institute of Medical Research, Brisbane, Australia) ;
Couch, Fergus J. (Mayo Clinic, Rochester, Minnesota) ;
Antoniou, Antonis C. (University of Cambridge) ;
Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge)
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. [...]
2015 - 10.1371/journal.pone.0120020
PloS one, Vol. 10 (april 2015)
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