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Results: 14
Quality of prison life, violence and mental health in Dubrava prison.
Mette Skar, Nicoline Lokdam, Alison Liebling, Alban Muriqi, Ditor Haliti, Feride Rushiti, Jens Modvig
Feb 11, 2019
Boosting care and knowledge about hereditary cancer
Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge, ERN GENTURIS
Feb 07, 2020
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March...
Cross border health care European Reference Network Genetic Hereditary cancer Rare Diseases Syndrome Clinical Competence Databases Factual Europe Genetic Predisposition to Disease Genetic Testing Humans Information Dissemination Information Services International Cooperation Medical Oncology Neoplastic Syndromes Hereditary Quality Improvement Rare Diseases Registries Remote Consultation Time-to-Treatment
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group, European Reference Network GENTURIS
Apr 29, 2020
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer...
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer
Iris BAW Te Paske, José Garcia-Pelaez, Anna K Sommer, Leslie Matalonga, Teresa Starzynska, Anna Jakubowska, Solve-RD-GENTURIS group, Rachel S van der Post, Jan Lubinski, Carla Oliveira, Nicoline Hoogerbrugge, Richarda M de Voer
Sep 15, 2021
Addition of a 161-SNP polygenic risk score to family history-based risk prediction
Inge MM Lakeman, Florentine S Hilbers, Mar Rodríguez-Girondo, Andrew Lee, Maaike PG Vreeswijk, Antoinette Hollestelle, Caroline Seynaeve, Hanne Meijers-Heijboer, Jan C Oosterwijk, Nicoline Hoogerbrugge, Edith Olah, Hans FA Vasen, Christi J van Asperen, Peter Devilee
Jun 20, 2019
Cancer: breast Clinical genetics Genetic epidemiology Genetic screening/counselling polygenic risk score Adult Aged Aged 80 and over Alleles Biomarkers Tumor Breast Neoplasms Case-Control Studies Clinical Decision-Making Disease Management Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Middle Aged Pedigree Polymorphism Single Nucleotide Prognosis Proportional Hazards Models Risk Assessment Young Adult
Solve-RD
Birte Zurek, Kornelia Ellwanger, Lisenka ELM Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter AC 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, Solve-RD Consortium
Sep 15, 2021
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300...
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, Tanya Bisseling, Virginie Bubien, Frederic Caux, Nathalie Chabbert-Buffet, Sophie Da Mota Gomes, Martin Gotthardt, Marleen Kets, Katherine L. Lachlan, Thera P. Links, Michel Longy, Ritse Mann, Leo Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet Vos, Marjolijn Ligtenberg, Rianne Oostenbrink, Rolf Sijmons, Gareth Evans, Emma Woodward, Eamonn Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke-Lange, Elke Holinski-Feder, Evelin Schröck, Thierry Frebourg, Claude Houdayer, Pierre Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin de Putter, Ignacio Blanco Guillermo, Gabriel Capella, Joan Brunet Vidal, Conxi Lázaro, Judith Balmaña, Hector Salvador Hernandez, Carla Oliveira, Manuel Teixeira, Svetlana Bajalica-Lagercrantz, Emma Tham, Jan Lubinski, Karolina Ertmanska, Bela Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala
Feb 09, 2021
Abstract: PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial...
Hereditary diffuse gastric cancer
Rachel S van der Post, Ingrid P Vogelaar, Fátima Carneiro, Parry Guilford, David Huntsman, Nicoline Hoogerbrugge, Carlos Caldas, Karen E Chelcun Schreiber, Richard H Hardwick, Margreet Gem Ausems, Linda Bardram, Patrick R Benusiglio, Tanya M Bisseling, Vanessa Blair, Eveline Bleiker, Alex Boussioutas, Annemieke Cats, Daniel Coit, Lynn DeGregorio, Joana Figueiredo, James M Ford, Esther Heijkoop, Rosella Hermens, Bostjan Humar, Pardeep Kaurah, Gisella Keller, Jennifer Lai, Marjolijn JL Ligtenberg, Maria O'Donovan, Carla Oliveira, Hugo Pinheiro, Krish Ragunath, Esther Rasenberg, Susan Richardson, Franco Roviello, Hans Schackert, Raquel Seruca, Amy Taylor, Anouk Ter Huurne, Marc Tischkowitz, Sheena Tjon A Joe, Benjamin van Dijck, Nicole CT van Grieken, Richard van Hillegersberg, Johanna W van Sandick, Rianne Vehof, J Han van Krieken, Rebecca C Fitzgerald
Feb 13, 2020
Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic testing, surgery, surveillance strategies...
Cancer: breast Cancer: gastric Clinical genetics Diagnostics Stomach and duodenum Antigens CD Breast Neoplasms Cadherins Colorectal Neoplasms DNA Mutational Analysis Early Detection of Cancer Female Genetic Counseling Genetic Testing Germ-Line Mutation Heterozygote Humans Population Surveillance Practice Guidelines as Topic Pregnancy Stomach Neoplasms
Guidelines for the Li–Fraumeni and heritable TP53 -related cancer syndromes
Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Marleen Kets, Rianne Oostenbrink, Rolf Sijmons, Gareth Evans, Emma Woodward, Marc Tischkowitz, Eamonn Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke-Lange, Elke Holinski-Feder, Evelin Schröck, Thierry Frebourg, Claude Houdayer, Chrystelle Colas, Pierre Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin de Putter, Ignacio Blanco Guillermo, Gabriel Capella, Joan Brunet Vidal, Conxi Lázaro, Judith Balmaña, Hector Salvador Hernandez, Manuel Teixeira, Svetlana Bajalica-Lagercrantz, Emma Tham, Jan Lubinski, Karolina Ertmanska, Bela Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala
Feb 09, 2021
Abstract: Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among...
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, Tanya Bisseling, Virginie Bubien, Frederic Caux, Nathalie Chabbert-Buffet, Sophie Da Mota Gomes, Martin Gotthardt, Marleen Kets, Katherine L. Lachlan, Thera P. Links, Michel Longy, Ritse Mann, Leo Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet Vos, Marjolijn Ligtenberg, Rianne Oostenbrink, Rolf Sijmons, Gareth Evans, Emma Woodward, Eamonn Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke-Lange, Elke Holinski-Feder, Evelin Schröck, Thierry Frebourg, Claude Houdayer, Pierre Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin de Putter, Ignacio Blanco Guillermo, Gabriel Capella, Joan Brunet Vidal, Conxi Lázaro, Judith Balmaña, Hector Salvador Hernandez, Carla Oliveira, Manuel Teixeira, Svetlana Bajalica-Lagercrantz, Emma Tham, Jan Lubinski, Karolina Ertmanska, Bela Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala
Jun 12, 2021
Abstract: PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial...
Guidelines for the Li–Fraumeni and heritable TP53 -related cancer syndromes
Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Marleen Kets, Rianne Oostenbrink, Rolf Sijmons, Gareth Evans, Emma Woodward, Marc Tischkowitz, Eamonn Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke-Lange, Elke Holinski-Feder, Evelin Schröck, Thierry Frebourg, Claude Houdayer, Chrystelle Colas, Pierre Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin de Putter, Ignacio Blanco Guillermo, Gabriel Capella, Joan Brunet Vidal, Conxi Lázaro, Judith Balmaña, Hector Salvador Hernandez, Manuel Teixeira, Svetlana Bajalica-Lagercrantz, Emma Tham, Jan Lubinski, Karolina Ertmanska, Bela Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala
Sep 23, 2020
Abstract: Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among...
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, Tanya Bisseling, Virginie Bubien, Frederic Caux, Nathalie Chabbert-Buffet, Sophie Da Mota Gomes, Martin Gotthardt, Marleen Kets, Katherine L. Lachlan, Thera P. Links, Michel Longy, Ritse Mann, Leo Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet Vos, Marjolijn Ligtenberg, Rianne Oostenbrink, Rolf Sijmons, Gareth Evans, Emma Woodward, Eamonn Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke-Lange, Elke Holinski-Feder, Evelin Schröck, Thierry Frebourg, Claude Houdayer, Pierre Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin de Putter, Ignacio Blanco Guillermo, Gabriel Capella, Joan Brunet Vidal, Conxi Lázaro, Judith Balmaña, Hector Salvador Hernandez, Carla Oliveira, Manuel Teixeira, Svetlana Bajalica-Lagercrantz, Emma Tham, Jan Lubinski, Karolina Ertmanska, Bela Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala
Sep 23, 2020
Abstract: PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial...
Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
Hongyan Li, Mary Beth Terry, Antonis C Antoniou, Kelly-Anne Phillips, Karin Kast, Thea M Mooij, Christoph Engel, Catherine Noguès, Dominique Stoppa-Lyonnet, Christine Lasset, Pascaline Berthet, Veronique Mari, Olivier Caron, GENEPSO study, Daniel Barrowdale, Debra Frost, Carole Brewer, D Gareth Evans, Louise Izatt, Lucy Side, Lisa Walker, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Katie Snape, EMBRACE Study, Hanne EJ Meijers-Heijboer, Johan JP Gille, Marinus J Blok, Nicoline Hoogerbrugge, HEBON Investigators, Mary B Daly, Irene L Andrulis, Saundra S Buys, Esther M John, Sue-Anne McLachlan, Michael Friedlander, kConFab Investigators, Yen Y Tan, Ana Osorio, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F Singer, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Brita Arver, Håkan Olsson, Rita K Schmutzler, John L Hopper, Roger L Milne, Douglas F Easton, Flora E van Leeuwen, Matti A Rookus, Nadine Andrieu, David E Goldgar
Dec 04, 2019
BACKGROUND: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very few studies have examined these effects in BRCA1 and...
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
Ana Osorio, Roger L Milne, Karoline Kuchenbaecker, Tereza Vaclová, Guillermo Pita, Rosario Alonso, Paolo Peterlongo, Ignacio Blanco, Miguel de la Hoya, Mercedes Duran, Orland Díez, Teresa Ramón Y Cajal, Irene Konstantopoulou, Cristina Martínez-Bouzas, Raquel Andrés Conejero, Penny Soucy, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, SWE-BRCA, Brita Arver, Johanna Rantala, Niklas Loman, Hans Ehrencrona, Olufunmilayo I Olopade, Mary S Beattie, Susan M Domchek, Katherine Nathanson, Timothy R Rebbeck, Banu K Arun, Beth Y Karlan, Christine Walsh, Jenny Lester, Esther M John, Alice S Whittemore, Mary B Daly, Melissa Southey, John Hopper, Mary B Terry, Saundra S Buys, Ramunas Janavicius, Cecilia M Dorfling, Elizabeth J van Rensburg, Linda Steele, Susan L Neuhausen, Yuan Chun Ding, Thomas vO Hansen, Lars Jønson, Bent Ejlertsen, Anne-Marie Gerdes, Mar Infante, Belén Herráez, Leticia Thais Moreno, Jeffrey N Weitzel, Josef Herzog, Kisa Weeman, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Giulietta Scuvera, Bernardo Bonanni, Frederique Mariette, Sara Volorio, Alessandra Viel, Liliana Varesco, Laura Papi, Laura Ottini, Maria Grazia Tibiletti, Paolo Radice, Drakoulis Yannoukakos, Judy Garber, Steve Ellis, Debra Frost, Radka Platte, Elena Fineberg, Gareth Evans, Fiona Lalloo, Louise Izatt, Ros Eeles, Julian Adlard, Rosemarie Davidson, Trevor Cole, Diana Eccles, Jackie Cook, Shirley Hodgson, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Mary Porteous, Lucy Side, Lisa Walker, Patrick Morrison, Alan Donaldson, John Kennedy, Claire Foo, Andrew K Godwin, Rita Katharina Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hans Jörg Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, Doris Steinemann, Sabine Preisler-Adams, Karin Kast, Raymonda Varon-Mateeva, Andrea Gehrig, Dominique Stoppa-Lyonnet, Olga M Sinilnikova, Sylvie Mazoyer, Francesca Damiola, Bruce Poppe, Kathleen Claes, Marion Piedmonte, Kathy Tucker, Floor Backes, Gustavo Rodríguez, Wendy Brewster, Katie Wakeley, Thomas Rutherford, Trinidad Caldés, Heli Nevanlinna, Kristiina Aittomäki, Matti A Rookus, Theo AM van Os, Lizet van der Kolk, JL de Lange, Hanne EJ Meijers-Heijboer, AH van der Hout, Christi J van Asperen, Encarna B Gómez Garcia, Nicoline Hoogerbrugge, J Margriet Collée, Carolien HM van Deurzen, Rob B van der Luijt, Peter Devilee, HEBON, Edith Olah, Conxi Lázaro, Alex Teulé, Mireia Menéndez, Anna Jakubowska, Cezary Cybulski, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Oskar Th Johannsson, Christine Maugard, Marco Montagna, Silvia Tognazzo, Manuel R Teixeira, Sue Healey, kConFab Investigators, Curtis Olswold, Lucia Guidugli, Noralane Lindor, Susan Slager, Csilla I Szabo, Joseph Vijai, Mark Robson, Noah Kauff, Liying Zhang, Rohini Rau-Murthy, Anneliese Fink-Retter, Christian F Singer, Christine Rappaport, Daphne Geschwantler Kaulich, Georg Pfeiler, Muy-Kheng Tea, Andreas Berger, Catherine M Phelan, Mark H Greene, Phuong L Mai, Flavio Lejbkowicz, Irene Andrulis, Anna Marie Mulligan, Gord Glendon, Amanda Ewart Toland, Anders Bojesen, Inge Sokilde Pedersen, Lone Sunde, Mads Thomassen, Torben A Kruse, Uffe Birk Jensen, Eitan Friedman, Yael Laitman, Shani Paluch Shimon, Jacques Simard, Douglas F Easton, Kenneth Offit, Fergus J Couch, Georgia Chenevix-Trench, Antonis C Antoniou, Javier Benitez
Nov 15, 2018
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...