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1 |
Material Type: Artigo
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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriersGonzález-Acosta, Maribel ; Marín, Fátima ; Puliafito, Benjamin ; Bonifaci, Nuria ; Fernández, Anna ; Navarro, Matilde ; Salvador, Hector ; Balaguer, Francesc ; Iglesias, Silvia ; Velasco, Angela ; Grau Garces, Elia ; Moreno, Victor ; Gonzalez-Granado, Luis Ignacio ; Guerra-García, Pilar ; Ayala, Rosa ; Florkin, Benoît ; Kratz, Christian ; Ripperger, Tim ; Rosenbaum, Thorsten ; Januszkiewicz-Lewandowska, Danuta ; Azizi, Amedeo A ; Ragab, Iman ; Nathrath, Michaela ; Pander, Hans-Jürgen ; Lobitz, Stephan ; Suerink, Manon ; Dahan, Karin ; Imschweiler, Thomas ; Demirsoy, Ugur ; Brunet, Joan ; Lázaro, Conxi ; Rueda, Daniel ; Wimmer, Katharina ; Capellá, Gabriel ; Pineda, MartaJournal of medical genetics, 2020-04, Vol.57 (4), p.269-273 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome databaseMøller, Pål ; Seppälä, Toni ; Bernstein, Inge ; Holinski-Feder, Elke ; Sala, Paola ; Evans, D Gareth ; Lindblom, Annika ; Macrae, Finlay ; Blanco, Ignacio ; Sijmons, Rolf ; Jeffries, Jacqueline ; Vasen, Hans ; Burn, John ; Nakken, Sigve ; Hovig, Eivind ; Rødland, Einar Andreas ; Tharmaratnam, Kukatharmini ; de Vos tot Nederveen Cappel, Wouter H ; Hill, James ; Wijnen, Juul ; Green, Kate ; Lalloo, Fiona ; Sunde, Lone ; Mints, Miriam ; Bertario, Lucio ; Pineda, Marta ; Navarro, Matilde ; Morak, Monika ; Renkonen-Sinisalo, Laura ; Frayling, Ian M ; Plazzer, John-Paul ; Pylvanainen, Kirsi ; Sampson, Julian R ; Capella, Gabriel ; Mecklin, Jukka-Pekka ; Möslein, GabrielaGut, 2017-03, Vol.66 (3), p.464-472 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-CancerLatham, Alicia ; Srinivasan, Preethi ; Kemel, Yelena ; Shia, Jinru ; Bandlamudi, Chaitanya ; Mandelker, Diana ; Middha, Sumit ; Hechtman, Jaclyn ; Zehir, Ahmet ; Dubard-Gault, Marianne ; Tran, Christina ; Stewart, Carolyn ; Sheehan, Margaret ; Penson, Alexander ; DeLair, Deborah ; Yaeger, Rona ; Vijai, Joseph ; Mukherjee, Semanti ; Galle, Jesse ; Dickson, Mark A ; Janjigian, Yelena ; O'Reilly, Eileen M ; Segal, Neil ; Saltz, Leonard B ; Reidy-Lagunes, Diane ; Varghese, Anna M ; Bajorin, Dean ; Carlo, Maria I ; Cadoo, Karen ; Walsh, Michael F ; Weiser, Martin ; Aguilar, Julio Garcia ; Klimstra, David S ; Diaz, Jr, Luis A ; Baselga, Jose ; Zhang, Liying ; Ladanyi, Marc ; Hyman, David M ; Solit, David B ; Robson, Mark E ; Taylor, Barry S ; Offit, Kenneth ; Berger, Michael F ; Stadler, Zsofia KJournal of clinical oncology, 2019-02, Vol.37 (4), p.286-295 [Periódico revisado por pares]United States: American Society of Clinical OncologyTexto completo disponível |
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Material Type: Artigo
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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European expertsVasen, Hans F A ; Blanco, Ignacio ; Aktan-Collan, Katja ; Gopie, Jessica P ; Alonso, Angel ; Aretz, Stefan ; Bernstein, Inge ; Bertario, Lucio ; Burn, John ; Capella, Gabriel ; Colas, Chrystelle ; Engel, Christoph ; Frayling, Ian M ; Genuardi, Maurizio ; Heinimann, Karl ; Hes, Frederik J ; Hodgson, Shirley V ; Karagiannis, John A ; Lalloo, Fiona ; Lindblom, Annika ; Mecklin, Jukka-Pekka ; Møller, Pal ; Myrhoj, Torben ; Nagengast, Fokko M ; Parc, Yann ; Ponz de Leon, Maurizio ; Renkonen-Sinisalo, Laura ; Sampson, Julian R ; Stormorken, Astrid ; Sijmons, Rolf H ; Tejpar, Sabine ; Thomas, Huw J W ; Rahner, Nils ; Wijnen, Juul T ; Järvinen, Heikki Juhani ; Möslein, GabrielaGut, 2013-06, Vol.62 (6), p.812-823 [Periódico revisado por pares]England: BMJ Publishing Group Ltd and British Society of GastroenterologyTexto completo disponível |
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Material Type: Artigo
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Lynch Syndrome–Associated Colorectal CancerSinicrope, Frank A Solomon, Caren G ; Solomon, Caren G.The New England journal of medicine, 2018-08, Vol.379 (8), p.764-773 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch SyndromeBonadona, Valérie ; Bonaïti, Bernard ; Olschwang, Sylviane ; Grandjouan, Sophie ; Huiart, Laetitia ; Longy, Michel ; Guimbaud, Rosine ; Buecher, Bruno ; Bignon, Yves-Jean ; Caron, Olivier ; Colas, Chrystelle ; Noguès, Catherine ; Lejeune-Dumoulin, Sophie ; Olivier-Faivre, Laurence ; Polycarpe-Osaer, Florence ; Nguyen, Tan Dat ; Desseigne, Françoise ; Saurin, Jean-Christophe ; Berthet, Pascaline ; Leroux, Dominique ; Duffour, Jacqueline ; Manouvrier, Sylvie ; Frébourg, Thierry ; Sobol, Hagay ; Lasset, Christine ; Bonaïti-Pellié, Catherine ; French Cancer Genetics Network, for theJAMA : the journal of the American Medical Association, 2011-06, Vol.305 (22), p.2304-2310 [Periódico revisado por pares]Chicago, IL: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome DatabaseDominguez-Valentin, Mev ; Sampson, Julian R ; Seppälä, Toni T ; ten Broeke, Sanne W ; Plazzer, John-Paul ; Nakken, Sigve ; Engel, Christoph ; Aretz, Stefan ; Jenkins, Mark A ; Sunde, Lone ; Bernstein, Inge ; Capella, Gabriel ; Balaguer, Francesc ; Thomas, Huw ; Evans, D. Gareth ; Burn, John ; Greenblatt, Marc ; Hovig, Eivind ; de Vos tot Nederveen Cappel, Wouter H ; Sijmons, Rolf H ; Bertario, Lucio ; Tibiletti, Maria Grazia ; Cavestro, Giulia Martina ; Lindblom, Annika ; Della Valle, Adriana ; López-Köstner, Francisco ; Gluck, Nathan ; Katz, Lior H ; Heinimann, Karl ; Vaccaro, Carlos A ; Büttner, Reinhard ; Görgens, Heike ; Holinski-Feder, Elke ; Morak, Monika ; Holzapfel, Stefanie ; Hüneburg, Robert ; von Knebel Doeberitz, Magnus ; Loeffler, Markus ; Rahner, Nils ; Schackert, Hans K ; Steinke-Lange, Verena ; Schmiegel, Wolff ; Vangala, Deepak ; Pylvänäinen, Kirsi ; Renkonen-Sinisalo, Laura ; Hopper, John L ; Win, Aung Ko ; Haile, Robert W ; Lindor, Noralane M ; Gallinger, Steven ; Le Marchand, Loïc ; Newcomb, Polly A ; Figueiredo, Jane C ; Thibodeau, Stephen N ; Wadt, Karin ; Therkildsen, Christina ; Okkels, Henrik ; Ketabi, Zohreh ; Moreira, Leticia ; Sánchez, Ariadna ; Serra-Burriel, Miquel ; Pineda, Marta ; Navarro, Matilde ; Blanco, Ignacio ; Green, Kate ; Lalloo, Fiona ; Crosbie, Emma J ; Hill, James ; Denton, Oliver G ; Frayling, Ian M ; Rødland, Einar Andreas ; Vasen, Hans ; Mints, Miriam ; Neffa, Florencia ; Esperon, Patricia ; Alvarez, Karin ; Kariv, Revital ; Rosner, Guy ; Pinero, Tamara Alejandra ; Gonzalez, Maria Laura ; Kalfayan, Pablo ; Tjandra, Douglas ; Winship, Ingrid M ; Macrae, Finlay ; Möslein, Gabriela ; Mecklin, Jukka-Pekka ; Nielsen, Maartje ; Møller, PålGenetics in medicine, 2020-01 [Periódico revisado por pares]Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Microsatellite Instability in Colorectal CancerBoland, C. Richard ; Goel, AjayGastroenterology (New York, N.Y. 1943), 2010-06, Vol.138 (6), p.2073-2087.e3 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancerAntelo, Marina ; Balaguer, Francesc ; Shia, Jinru ; Shen, Yan ; Hur, Keun ; Moreira, Leticia ; Cuatrecasas, Miriam ; Bujanda, Luis ; Giraldez, Maria Dolores ; Takahashi, Masanobu ; Cabanne, Ana ; Barugel, Mario Edmundo ; Arnold, Mildred ; Roca, Enrique Luis ; Andreu, Montserrat ; Castellvi-Bel, Sergi ; Llor, Xavier ; Jover, Rodrigo ; Castells, Antoni ; Boland, C Richard ; Goel, Ajay Lo, Anthony WIPloS one, 2012-09, Vol.7 (9), p.e45357-e45357 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Molecular genetics and targeted therapy of WNT-related human diseases (Review)Katoh, Masuko ; Katoh, MasaruInternational journal of molecular medicine, 2017-09, Vol.40 (3), p.587-606 [Periódico revisado por pares]Athens: D.A. SpandidosTexto completo disponível |