592 results on '"Capella, Gabriel"'
Search Results
2. Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated 'Big Bang' pathway to CRC in three of the four Lynch syndromes
- Author
-
Maller, Pål, Haupt, Saskia, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., Sunde, Lone, Seppälä, Toni, Burn, John, Bernstein, Inge, Capella, Gabriel, Evans, D. Gareth, Lindblom, Annika, Winship, Ingrid, Macrae, Finlay, Katz, Lior, Laish, Ido, Vainer, Elez, Monahan, Kevin, Half, Elizabeth, Horisberger, Karoline, da Silva, Leandro Apolinário, Heuveline, Vincent, Therkildsen, Christina, Lautrup, Charlotte, Klarskov, Louise L, Cavestro, Giulia Martina, Möslein, Gabriela, Hovig, Eivind, and Dominguez-Valentin, Mev
- Subjects
EPUB (Standard) ,Colonoscopy -- Analysis ,Health - Abstract
Background Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma pathway. In this model adenomas with deficient mismatch repair have an increased probability of acquiring additional cancer driver mutation(s) resulting in more rapid progression to malignancy. If this model was accurate, the success of colonoscopy in preventing CRC would be a function of the intervals between colonoscopies and mean sojourn time of detectable adenomas. Contrary to expectations, colonoscopy did not decrease incidence of CRC in the Lynch syndromes and shorter colonoscopy intervals have not been effective in reducing CRC incidence. The prospective Lynch Syndrome Database (PLSD) was designed to examine these issues in carriers of pathogenic variants of the mis-match repair (path_MMR) genes. Materials and methods We examined the CRC and colorectal adenoma incidences in 3,574 path_MLH1, path_MSH2, path_MSH6 and path_PMS2 carriers subjected to regular colonoscopy with polypectomy, and considered the results based on sojourn times and stochastic probability paradigms. Results Most of the path_MMR carriers in each genetic group had no adenomas. There was no association between incidences of CRC and the presence of adenomas. There was no CRC observed in path_PMS2 carriers. Conclusions Colonoscopy prevented CRC in path_PMS2 carriers but not in the others. Our findings are consistent with colonoscopy surveillance blocking the adenoma-carcinoma pathway by removing identified adenomas which might otherwise become CRCs. However, in the other carriers most CRCs likely arised from dMMR cells in the crypts that have an increased mutation rate with increased stochastic chaotic probabilities for mutations. Therefore, this mechanism, that may be associated with no or only a short sojourn time of MSI tumours as adenomas, could explain the findings in our previous and current reports. Keywords: MSI, MLH1, MSH2, MSH6, PMS2, dMMR, Lynch syndromes, Colorectal, cancer, Adenoma, Colonoscopy, Sojourn time, Author(s): Pål Maller[sup.1], Saskia Haupt[sup.2,3], Aysel Ahadova[sup.4,5], Matthias Kloor[sup.4,5], Julian R. Sampson[sup.6], Lone Sunde[sup.7,8,9], Toni Seppälä[sup.10,11,12], John Burn[sup.13], Inge Bernstein[sup.14,15], Gabriel Capella[sup.16], D. Gareth Evans[sup.17], Annika Lindblom[sup.18,19], Ingrid Winship[sup.20,21], Finlay [...]
- Published
- 2024
- Full Text
- View/download PDF
3. Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data
- Author
-
Munté, Elisabet, Feliubadaló, Lídia, Del Valle, Jesús, González, Sara, Ramos-Muntada, Mireia, Balmaña, Judith, Ramon y Cajal, Teresa, Tuset, Noemí, Llort, Gemma, Cadiñanos, Juan, Brunet, Joan, Capellá, Gabriel, Lázaro, Conxi, and Pineda, Marta
- Published
- 2024
- Full Text
- View/download PDF
4. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence
- Author
-
Hassanin, Emadeldin, Spier, Isabel, Bobbili, Dheeraj R., Aldisi, Rana, Klinkhammer, Hannah, David, Friederike, Dueñas, Nuria, Hüneburg, Robert, Perne, Claudia, Brunet, Joan, Capella, Gabriel, Nöthen, Markus M., Forstner, Andreas J., Mayr, Andreas, Krawitz, Peter, May, Patrick, Aretz, Stefan, and Maj, Carlo
- Published
- 2023
- Full Text
- View/download PDF
5. Use of multi-gene panels in patients at high risk of hereditary digestive cancer: Position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium
- Author
-
Carballal, Sabela, Balaguer, Francesc, Bujanda, Luis, Capellá, Gabriel, González Santiago, Santiago, Jover, Rodrigo, Moreira, Leticia, Pineda, Marta, Ruiz-Ponte, Clara, Sánchez Heras, Ana Beatriz, Serrano Blanch, Raquel, Soto, José Luis, Vidal Tocino, Rosario, and Cubiella, Joaquín
- Published
- 2024
- Full Text
- View/download PDF
6. Uso de paneles de genes en pacientes con alto riesgo de cáncer digestivo hereditario: documento de posicionamiento de la AEG, SEOM, AEGH y consorcio IMPaCT-GENÓMICA
- Author
-
Carballal, Sabela, Balaguer, Francesc, Bujanda, Luis, Capellá, Gabriel, González Santiago, Santiago, Jover, Rodrigo, Moreira, Leticia, Pineda, Marta, Ruiz-Ponte, Clara, Sánchez Heras, Ana Beatriz, Serrano Blanch, Raquel, Soto, José Luis, Vidal Tocino, Rosario, and Cubiella, Joaquín
- Published
- 2024
- Full Text
- View/download PDF
7. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
- Author
-
Spier, Isabel, Yin, Xiaoyu, Richardson, Marcy, Pineda, Marta, Laner, Andreas, Ritter, Deborah, Boyle, Julie, Mur, Pilar, Hansen, Thomas v O., Shi, Xuemei, Mahmood, Khalid, Plazzer, John-Paul, Ognedal, Elisabet, Nordling, Margareta, Farrington, Susan M., Yamamoto, Gou, Baert-Desurmont, Stéphanie, Martins, Alexandra, Borras, Ester, Tops, Carli, Webb, Erica, Beshay, Victoria, Genuardi, Maurizio, Pesaran, Tina, Capellá, Gabriel, Tavtigian, Sean V., Latchford, Andrew, Frayling, Ian M., Plon, Sharon E., Greenblatt, Marc, Macrae, Finlay A., and Aretz, Stefan
- Published
- 2024
- Full Text
- View/download PDF
8. Highly Sensitive Microsatellite Instability and Immunohistochemistry Assessment in Endometrial Aspirates as a Tool for Cancer Risk Individualization in Lynch Syndrome
- Author
-
Canet-Hermida, Júlia, Marín, Fátima, Dorca, Eduard, Dueñas, Núria, Costas, Laura, Salinas, Mònica, Velasco, Àngela, Peremiquel-Trillas, Paula, Paytubi, Sònia, Ponce, Jordi, Fernández, Sergi, Martínez, José Manuel, Cárdenas, Laura, Taltavull, Anna, Alemany, Laia, Meléndez, Cristina, Oliveras, Glòria, Vidal, August, Capellá, Gabriel, López-Bonet, Eugeni, Brunet, Joan, Matias-Guiu, Xavier, and Pineda, Marta
- Published
- 2023
- Full Text
- View/download PDF
9. MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation
- Author
-
Hitchins, Megan P., Alvarez, Rocio, Zhou, Lisa, Aguirre, Francesca, Dámaso, Estela, Pineda, Marta, Capella, Gabriel, Wong, Justin J.-L., Yuan, Xiaopu, Ryan, Shawnia R., Sathe, Devika S., Baxter, Melanie D., Cannon, Timothy, Biswas, Rakesh, DeMarco, Tiffani, Grzelak, Doreen, Hampel, Heather, and Pearlman, Rachel
- Published
- 2023
- Full Text
- View/download PDF
10. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
-
Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
- Published
- 2023
- Full Text
- View/download PDF
11. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
- Author
-
Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål
- Published
- 2023
- Full Text
- View/download PDF
12. Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital
- Author
-
Dueñas, Nuria, Navarro, Matilde, Sanjuán, Xavier, Ruiz, Núria, Iglesias, Silvia, Matias-Guiu, Xavier, Guardiola, Jordi, Kreisler, Esther, Biondo, Sebastiano, González, Sara, Legido, Raquel, Blanco, Ana, Navarro, Silvia, Asiain, Leyre, Santos, Cristina, Capellá, Gabriel, Pineda, Marta, and Brunet, Joan
- Published
- 2023
- Full Text
- View/download PDF
13. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
- Author
-
Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, and Oliveira, Carla
- Published
- 2023
- Full Text
- View/download PDF
14. Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
- Author
-
Plazzer, John Paul, primary, Macrae, Finlay, additional, Yin, Xiaoyu, additional, Thompson, Bryony A, additional, Farrington, Susan M, additional, Currie, Lauren, additional, Lagerstedt-Robinson, Kristina, additional, Frederiksen, Jane Hubertz, additional, van Overeem Hansen, Thomas, additional, Graversen, Lise, additional, Frayling, Ian M, additional, Akagi, Kiwamu, additional, Yamamoto, Gou, additional, Al-Mulla, Fahd, additional, Ferber, Matthew J, additional, Martins, Alexandra, additional, Genuardi, Maurizio, additional, Kohonen-Corish, Maija, additional, Baert-Desurmont, Stephanie, additional, Spurdle, Amanda B, additional, Capella, Gabriel, additional, Pineda, Marta, additional, Woods, Michael O, additional, Rasmussen, Lene Juel, additional, Heinen, Christopher D, additional, Scott, Rodney J, additional, Tops, Carli M, additional, Greenblatt, Marc S, additional, Dominguez-Valentin, Mev, additional, Ognedal, Elisabet, additional, Borras, Ester, additional, Leung, Suet Y, additional, Mahmood, Khalid, additional, Holinski-Feder, Elke, additional, and Laner, Andreas, additional
- Published
- 2024
- Full Text
- View/download PDF
15. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD
- Author
-
Capella, Gabriel, Evans, Gareth, Rump, Andreas, Schröck, Evelin, Hoischen, Alexander, Geverink, Nicoline, Tischkowitz, Marc, Matalonga, Leslie, Laurie, Steven, Gilissen, Christian, Steyaert, Wouter, Demidov, German, Sommer, Anna K., te Paske, Iris B.A.W., Garcia-Pelaez, José, Laner, Andreas, Holinski-Feder, Elke, Steinke-Lange, Verena, Peters, Sophia, Valle, Laura, Spier, Isabel, Huntsman, David, Oliveira, Carla, de Voer, Richarda M., Hoogerbrugge, Nicoline, and Aretz, Stefan
- Published
- 2022
- Full Text
- View/download PDF
16. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
- Author
-
Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.
- Published
- 2022
- Full Text
- View/download PDF
17. Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome
- Author
-
Sánchez, Ariadna, Roos, Victorine H., Navarro, Matilde, Pineda, Marta, Caballol, Berta, Moreno, Lorena, Carballal, Sabela, Rodríguez-Alonso, Lorena, Ramon y Cajal, Teresa, Llort, Gemma, Piñol, Virginia, López-Fernández, Adrià, Salces, Inmaculada, Picó, Maria Dolores, Rivas, Laura, Bujanda, Luis, Garzon, Marta, Pizarro, Angeles, Martinez de Castro, Eva, López-Arias, Maria Jesus, Poves, Carmen, Garau, Catalina, Rodriguez-Alcalde, Daniel, Herraiz, Maite, Alvarez-Urrutia, Cristina, Dacal, Andres, Carrillo-Palau, Marta, Cid, Lucia, Ponce, Marta, Barreiro-Alonso, Eva, Saperas, Esteban, Aguirre, Elena, Romero, Cristina, Bastiaansen, Barbara, Gonzalez-Acosta, Maribel, Morales-Romero, Blai, Ocaña, Teresa, Rivero-Sánchez, Liseth, Jung, Gerhard, Bessa, Xavier, Cubiella, Joaquin, Jover, Rodrigo, Rodríguez-Moranta, Francisco, Balmaña, Judith, Brunet, Joan, Castells, Antoni, Dekker, Evelien, Capella, Gabriel, Serra-Burriel, Miquel, Moreira, Leticia, Pellise, Maria, and Balaguer, Francesc
- Published
- 2022
- Full Text
- View/download PDF
18. Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
- Author
-
Thet, Monica, Plazzer, John-Paul, Capella, Gabriel, Latchford, Andrew, Nadeau, Emily A. W., Greenblatt, Marc S., Macrae, Finlay, and Aziz, Aziz ur Rehman
- Abstract
MUTYH‐associated polyposis (MAP) is an autosomal recessive disorder where the inheritance of constitutional biallelic pathogenic MUTYH variants predisposes a person to the development of adenomas and colorectal cancer (CRC). It is also associated with extracolonic and extraintestinal manifestations that may overlap with the phenotype of familial adenomatous polyposis (FAP). Currently, there are discrepancies in the literature regarding whether certain phenotypes are truly associated with MAP. This narrative review is aimed at exploring the phenotypic spectrum of MAP to better characterize the MAP phenotype. Literature search was conducted to identify articles reporting on MAP‐specific phenotypes. Clinical data from 2109 MAP patients identified from the literature showed that 1123 patients (53.2%) had CRC. Some patients with CRC had no associated adenomas, suggesting that adenomas are not an obligatory component of MAP. Carriers of the two missense founder variants, and possibly truncating variants, had an increased cancer risk when compared to those who carry other pathogenic variants. It has been suggested that somatic G:C > T:A transversions are a mutational signature of MAP and could be used as a biomarker in screening and identifying patients with atypical MAP, or in associating certain phenotypes with MAP. The extracolonic and extraintestinal manifestations that have been associated with MAP include duodenal adenomas, duodenal cancer, fundic gland polyps, gastric cancer, ovarian cancer, bladder cancer, and skin cancer. The association of breast cancer and endometrial cancer with MAP remains disputed. Desmoid tumors and congenital hypertrophy of the retinal pigment epithelium (CHRPEs) are rarely reported in MAP but have long been seen in FAP patients and thus could act as a distinguishing feature between the two. This collection of MAP phenotypes will assist in the assessment of pathogenic MUTYH variants using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) Variant Interpretation Guidelines and ultimately improve patient care. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
19. Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
- Author
-
Lucci-Cordisco, Emanuela, Amenta, Simona, Panfili, Arianna, del Valle, Jesús, Capellá, Gabriel, Pineda, Marta, and Genuardi, Maurizio
- Published
- 2022
- Full Text
- View/download PDF
20. Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
- Author
-
Møller, Pål, primary, Haupt, Saski, additional, Ahadova, Aysel, additional, Kloor, Matthias, additional, Sampson, Julian, additional, Sunde, Lone, additional, Seppälä, Toni Toni, additional, Burn, John, additional, Bernstein, Inge, additional, Capella, Gabriel, additional, Evans, D Gareth, additional, Lindblom, Annika, additional, Winship, Ingrid, additional, Macrae, Finlay, additional, Katz, Lior, additional, Laish, Ido, additional, Vainer, Elez, additional, Monahan, Kevin, additional, Half, Elizabeth, additional, Horisberger, Karoline, additional, Silva, Leandro Apolinário da, additional, Heuveline, Vincent, additional, Therkildsen, Christina, additional, Lautrup, Charlotte, additional, Klarskov, Louvise L, additional, Cavestro, Giulia Martina, additional, Möslein, Gabriela, additional, Hovig, Eivind, additional, and Dominguez-Valentin, Mev, additional
- Published
- 2024
- Full Text
- View/download PDF
21. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
- Author
-
Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.
- Published
- 2021
- Full Text
- View/download PDF
22. Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes
- Author
-
Moukarzel, Lea A., Da Cruz Paula, Arnaud, Ferrando, Lorenzo, Hoang, Timothy, Sebastiao, Ana Paula Martins, Pareja, Fresia, Park, Kay J., Jungbluth, Achim A., Capella, Gabriel, Pineda, Marta, Levin, Jeffrey D., Abu-Rustum, Nadeem R., Ellenson, Lora H., Bel, August Vidal, Reis-Filho, Jorge S., Matias-Guiu, Xavier, Cadoo, Karen, Stadler, Zsofia K., and Weigelt, Britta
- Published
- 2021
- Full Text
- View/download PDF
23. Oncolytic adenovirus with hyaluronidase activity that evades neutralizing antibodies: VCN-11
- Author
-
Mato-Berciano, Ana, Morgado, Sara, Maliandi, María V., Farrera-Sal, Martí, Gimenez-Alejandre, Marta, Ginestà, Mireia M., Moreno, Rafael, Torres-Manjon, Silvia, Moreno, Paz, Arias-Badia, Marcel, Rojas, Luis A., Capellà, Gabriel, Alemany, Ramon, Cascallo, Manel, and Bazan-Peregrino, Miriam
- Published
- 2021
- Full Text
- View/download PDF
24. The Molecular Basis of Lynch-like Syndrome
- Author
-
Vargas-Parra, Gardenia, Navarro, Matilde, Pineda, Marta, Capellá, Gabriel, Valle, Laura, editor, Gruber, Stephen B., editor, and Capellá, Gabriel, editor
- Published
- 2018
- Full Text
- View/download PDF
25. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
- Author
-
Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Ryan, Neil, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, 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., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., and Møller, Pål
- Published
- 2021
- Full Text
- View/download PDF
26. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
- Author
-
Maller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, LubiÅski, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, DÄbniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueéas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.
- Subjects
EPUB (Standard) -- Comparative analysis ,Colonoscopy -- Comparative analysis ,Colorectal cancer -- Comparative analysis ,Health - Abstract
Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands. Results In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups. Conclusions Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so. Keywords: Lynch Syndrome, Epidemiology, Prevention, Penetrance, Colorectal cancer, Segregation analysis, Prospective, Incidence, Over-diagnosis, Colonoscopy, Author(s): Pål Maller[sup.1], Toni Seppälä[sup.2,3,4], James G. Dowty[sup.5], Saskia Haupt[sup.6,7], Mev Dominguez-Valentin[sup.1], Lone Sunde[sup.8,9], Inge Bernstein[sup.10,11], Christoph Engel[sup.12], Stefan Aretz[sup.13], Maartje Nielsen[sup.14], Gabriel Capella[sup.15], Dafydd Gareth Evans[sup.16], John Burn[sup.17], Elke [...]
- Published
- 2022
- Full Text
- View/download PDF
27. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
- Author
-
Dominguez-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, Lopez-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, Knebel Doeberitz, Magnus von, 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, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, and Møller, Pål
- Published
- 2020
- Full Text
- View/download PDF
28. Expression and Role of MicroRNAs from the miR-200 Family in the Tumor Formation and Metastatic Propensity of Pancreatic Cancer
- Author
-
Diaz-Riascos, Zamira Vanessa, Ginesta, Mireia M., Fabregat, Joan, Serrano, Teresa, Busquets, Juli, Buscail, Louis, Cordelier, Pierre, and Capellá, Gabriel
- Published
- 2019
- Full Text
- View/download PDF
29. Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome
- Author
-
Gonzalez-Abuin, Noemi, Pons, Tirso, Fuster, Teresa, Quintana, Isabel, Terradas, Mariona, Aiza, Gemma, Brunet, Joan, Capellá, Gabriel, Hampel, Heather, and Valle, Laura
- Published
- 2024
- Full Text
- View/download PDF
30. Organochlorine Exposure and Colorectal Cancer Risk
- Author
-
Howsam, Mike, Grimalt, Joan O., Guinó, Elisabet, Navarro, Matilde, Martí-Ragué, Juan, Peinado, Miguel A., Capellá, Gabriel, and Moreno, Victor
- Published
- 2004
31. Mo1151 COLORECTAL ADENOMA PREVALENCE AND INCIDENCE IN LYNCH SYNDROME BY GENE
- Author
-
Sanchez, Ariadna, primary, Castillo, Joaquin, additional, Roos, Victorine, additional, Navarro, Matilde, additional, Pineda, Marta, additional, Oliva, Berta Caballol, additional, Calle, Lorena Moreno, additional, Carballal, Sabela, additional, Rodriguez-Alonso, Lorena, additional, Cajal, Teresa Ramon Y, additional, Llort, Gemma, additional, Piñol, Virginia, additional, Lopez-Fernandez, Adrià, additional, Salces, Inmaculada, additional, Picó, Maria Dolores, additional, Rivas, Laura, additional, Bujanda, Luis, additional, Garzon-Benavides, Marta, additional, Pizarro, Angeles, additional, De Castro, Eva M., additional, Lopez-Arias, Maria Jesús, additional, Poves, Carmen F., additional, Garau, Catalina, additional, Rodríguez-Alcalde, Daniel, additional, Herraiz, Maite, additional, Alvarez, Cristina, additional, Rivas, Andres Dacal, additional, Carrillo-Palau, Marta, additional, Cid, Lucía, additional, Ponce, Marta, additional, Barreiro-Alonso, Eva, additional, Saperas, Esteban, additional, Aguirre, Elena, additional, Ocaña, Teresa, additional, Rivero, Liseth, additional, Bessa, Xavier, additional, Cubiella, Joaquin, additional, Jover, Rodrigo, additional, Rodriguez-Moranta, Francisco, additional, Balmaña, Judit, additional, Brunet, Joan, additional, Castells, Antoni, additional, Dekker, Evelien, additional, Capella, Gabriel, additional, Moreira, Leticia, additional, Pellise, Maria, additional, and Balaguer, Francesc, additional
- Published
- 2023
- Full Text
- View/download PDF
32. Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
- Author
-
Dominguez-Valentin, Mev, Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Holth, Arild, Capella, Gabriel, Davidson, Ben, Evans, D. Gareth, Martins, Alexandra, Møller, Pål, and Hovig, Eivind
- Published
- 2019
- Full Text
- View/download PDF
33. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
- Author
-
Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, consortium, Solve-R. D., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoen, Peter A. C. T, Vissers, Lisenka E. L. M., Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Abbott, Kristin M., Frederikse, Wilhemina Skerstjens, Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Beeson, David, Cossins, Judith, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Başak, Ayşe Nazlı, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Claeys, Kristl, Santen, Gijs W. E., Bijlsma, Emilia K., Hoffer, Mariette J. V., Ruivenkamp, Claudia A. L., Boztug, Kaan, Haimel, Matthias, Maystadt, Isabelle, Cordts, Isabelle, Deschauer, Marcus, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Depienne, Christel, Roos, Andreas, May, Patrick, and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
- Subjects
Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine] ,Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] ,Multidisciplinary, general & others [D99] [Human health sciences] - Abstract
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques.
- Published
- 2023
34. Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome
- Author
-
Duenas Cid, Nuria, primary, klinkhammer, Hannah, additional, Bonifaci, Nuria, additional, Spier, Isabel, additional, Mayr, Andreas, additional, Hassanin, Emadeldin, additional, Diez-Villanueva, Anna, additional, Moreno, Victor, additional, Pineda, Marta, additional, Maj, Carlo, additional, Capella, Gabriel, additional, Aretz, Stefan, additional, and Brunet, Joan, additional
- Published
- 2023
- Full Text
- View/download PDF
35. Table S7 from Optimization of RAS/BRAF Mutational Analysis Confirms Improvement in Patient Selection for Clinical Benefit to Anti-EGFR Treatment in Metastatic Colorectal Cancer
- Author
-
Santos, Cristina, primary, Azuara, Daniel, primary, Garcia-Carbonero, Rocio, primary, Alfonso, Pilar Garcia, primary, Carrato, Alfredo, primary, Elez, Mª Elena, primary, Gomez, Auxiliadora, primary, Losa, Ferran, primary, Montagut, Clara, primary, Massuti, Bartomeu, primary, Navarro, Valenti, primary, Varela, Mar, primary, Lopez-Doriga, Adriana, primary, Moreno, Victor, primary, Valladares, Manuel, primary, Manzano, Jose Luis, primary, Vieitez, Jose Maria, primary, Aranda, Enrique, primary, Sanjuan, Xavier, primary, Tabernero, Josep, primary, Capella, Gabriel, primary, and Salazar, Ramon, primary
- Published
- 2023
- Full Text
- View/download PDF
36. Data from Optimization of RAS/BRAF Mutational Analysis Confirms Improvement in Patient Selection for Clinical Benefit to Anti-EGFR Treatment in Metastatic Colorectal Cancer
- Author
-
Santos, Cristina, primary, Azuara, Daniel, primary, Garcia-Carbonero, Rocio, primary, Alfonso, Pilar Garcia, primary, Carrato, Alfredo, primary, Elez, Mª Elena, primary, Gomez, Auxiliadora, primary, Losa, Ferran, primary, Montagut, Clara, primary, Massuti, Bartomeu, primary, Navarro, Valenti, primary, Varela, Mar, primary, Lopez-Doriga, Adriana, primary, Moreno, Victor, primary, Valladares, Manuel, primary, Manzano, Jose Luis, primary, Vieitez, Jose Maria, primary, Aranda, Enrique, primary, Sanjuan, Xavier, primary, Tabernero, Josep, primary, Capella, Gabriel, primary, and Salazar, Ramon, primary
- Published
- 2023
- Full Text
- View/download PDF
37. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
- Author
-
Jackson, Adam, primary, Lin, Sheng-Jia, additional, Jones, Elizabeth A., additional, Chandler, Kate E., additional, Orr, David, additional, Moss, Celia, additional, Haider, Zahra, additional, Ryan, Gavin, additional, Holden, Simon, additional, Harrison, Mike, additional, Burrows, Nigel, additional, Jones, Wendy D., additional, Loveless, Mary, additional, Petree, Cassidy, additional, Stewart, Helen, additional, Low, Karen, additional, Donnelly, Deirdre, additional, Lovell, Simon, additional, Drosou, Konstantina, additional, Varshney, Gaurav K., additional, Banka, Siddharth, additional, Ambrose, J.C., additional, Arumugam, P., additional, Bevers, R., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boustred, C.R., additional, Brittain, H., additional, Brown, M.A., additional, Caulfield, M.J., additional, Chan, G.C., additional, Giess, A., additional, Griffin, J.N., additional, Hamblin, A., additional, Henderson, S., additional, Hubbard, T.J.P., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Lakey, A., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, McEntagart, M., additional, Minneci, F., additional, Mitchell, J., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, O‘Donovan, P., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smith, S.C., additional, Sosinsky, A., additional, Stuckey, A., additional, Tanguy, M., additional, Taylor Tavares, A.L., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, Zarowiecki, M., additional, Riess, Olaf, additional, Haack, Tobias B., additional, Graessner, Holm, additional, Zurek, Birte, additional, Ellwanger, Kornelia, additional, Ossowski, Stephan, additional, Demidov, German, additional, Sturm, Marc, additional, Schulze-Hentrich, Julia M., additional, Schüle, Rebecca, additional, Kessler, Christoph, additional, Wayand, Melanie, additional, Synofzik, Matthis, additional, Wilke, Carlo, additional, Traschütz, Andreas, additional, Schöls, Ludger, additional, Hengel, Holger, additional, Heutink, Peter, additional, Brunner, Han, additional, Scheffer, Hans, additional, Hoogerbrugge, Nicoline, additional, Hoischen, Alexander, additional, ’t Hoen, Peter A.C., additional, Vissers, Lisenka E.L.M., additional, Gilissen, Christian, additional, Steyaert, Wouter, additional, Sablauskas, Karolis, additional, de Voer, Richarda M., additional, Kamsteeg, Erik-Jan, additional, van de Warrenburg, Bart, additional, van Os, Nienke, additional, Paske, Iris te, additional, Janssen, Erik, additional, de Boer, Elke, additional, Steehouwer, Marloes, additional, Yaldiz, Burcu, additional, Kleefstra, Tjitske, additional, Brookes, Anthony J., additional, Veal, Colin, additional, Gibson, Spencer, additional, Wadsley, Marc, additional, Mehtarizadeh, Mehdi, additional, Riaz, Umar, additional, Warren, Greg, additional, Dizjikan, Farid Yavari, additional, Shorter, Thomas, additional, Töpf, Ana, additional, Straub, Volker, additional, Bettolo, Chiara Marini, additional, Specht, Sabine, additional, Clayton-Smith, Jill, additional, Alexander, Elizabeth, additional, Jackson, Adam, additional, Faivre, Laurence, additional, Thauvin, Christel, additional, Vitobello, Antonio, additional, Denommé-Pichon, Anne-Sophie, additional, Duffourd, Yannis, additional, Tisserant, Emilie, additional, Bruel, Ange-Line, additional, Peyron, Christine, additional, Pélissier, Aurore, additional, Beltran, Sergi, additional, Gut, Ivo Glynne, additional, Laurie, Steven, additional, Piscia, Davide, additional, Matalonga, Leslie, additional, Papakonstantinou, Anastasios, additional, Bullich, Gemma, additional, Corvo, Alberto, additional, Garcia, Carles, additional, Fernandez-Callejo, Marcos, additional, Hernández, Carles, additional, Picó, Daniel, additional, Paramonov, Ida, additional, Lochmüller, Hanns, additional, Gumus, Gulcin, additional, Bros-Facer, Virginie, additional, Rath, Ana, additional, Hanauer, Marc, additional, Olry, Annie, additional, Lagorce, David, additional, Havrylenko, Svitlana, additional, Izem, Katia, additional, Rigour, Fanny, additional, Stevanin, Giovanni, additional, Durr, Alexandra, additional, Davoine, Claire-Sophie, additional, Guillot-Noel, Léna, additional, Heinzmann, Anna, additional, Coarelli, Giulia, additional, Bonne, Gisèle, additional, Evangelista, Teresinha, additional, Allamand, Valérie, additional, Nelson, Isabelle, additional, Ben Yaou, Rabah, additional, Metay, Corinne, additional, Eymard, Bruno, additional, Cohen, Enzo, additional, Atalaia, Antonio, additional, Stojkovic, Tanya, additional, Macek, Milan, additional, Turnovec, Marek, additional, Thomasová, Dana, additional, Kremliková, Radka Pourová, additional, Franková, Vera, additional, Havlovicová, Markéta, additional, Kremlik, Vlastimil, additional, Parkinson, Helen, additional, Keane, Thomas, additional, Spalding, Dylan, additional, Senf, Alexander, additional, Robinson, Peter, additional, Danis, Daniel, additional, Robert, Glenn, additional, Costa, Alessia, additional, Patch, Christine, additional, Hanna, Mike, additional, Houlden, Henry, additional, Reilly, Mary, additional, Vandrovcova, Jana, additional, Muntoni, Francesco, additional, Zaharieva, Irina, additional, Sarkozy, Anna, additional, Timmerman, Vincent, additional, Baets, Jonathan, additional, Van de Vondel, Liedewei, additional, Beijer, Danique, additional, de Jonghe, Peter, additional, Nigro, Vincenzo, additional, Banfi, Sandro, additional, Torella, Annalaura, additional, Musacchia, Francesco, additional, Piluso, Giulio, additional, Ferlini, Alessandra, additional, Selvatici, Rita, additional, Rossi, Rachele, additional, Neri, Marcella, additional, Aretz, Stefan, additional, Spier, Isabel, additional, Sommer, Anna Katharina, additional, Peters, Sophia, additional, Oliveira, Carla, additional, Pelaez, Jose Garcia, additional, Matos, Ana Rita, additional, José, Celina São, additional, Ferreira, Marta, additional, Gullo, Irene, additional, Fernandes, Susana, additional, Garrido, Luzia, additional, Ferreira, Pedro, additional, Carneiro, Fátima, additional, Swertz, Morris A., additional, Johansson, Lennart, additional, van der Velde, Joeri K., additional, van der Vries, Gerben, additional, Neerincx, Pieter B., additional, Roelofs-Prins, Dieuwke, additional, Köhler, Sebastian, additional, Metcalfe, Alison, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Rooryck, Caroline, additional, Trimouille, Aurelien, additional, Castello, Raffaele, additional, Morleo, Manuela, additional, Pinelli, Michele, additional, Varavallo, Alessandra, additional, De la Paz, Manuel Posada, additional, Sánchez, Eva Bermejo, additional, Martín, Estrella López, additional, Delgado, Beatriz Martínez, additional, Alonso García de la Rosa, F. Javier, additional, Ciolfi, Andrea, additional, Dallapiccola, Bruno, additional, Pizzi, Simone, additional, Radio, Francesca Clementina, additional, Tartaglia, Marco, additional, Renieri, Alessandra, additional, Benetti, Elisa, additional, Balicza, Peter, additional, Molnar, Maria Judit, additional, Maver, Ales, additional, Peterlin, Borut, additional, Münchau, Alexander, additional, Lohmann, Katja, additional, Herzog, Rebecca, additional, Pauly, Martje, additional, Macaya, Alfons, additional, Marcé-Grau, Anna, additional, Osorio, Andres Nascimiento, additional, Natera de Benito, Daniel, additional, Thompson, Rachel, additional, Polavarapu, Kiran, additional, Beeson, David, additional, Cossins, Judith, additional, Rodriguez Cruz, Pedro M., additional, Hackman, Peter, additional, Johari, Mridul, additional, Savarese, Marco, additional, Udd, Bjarne, additional, Horvath, Rita, additional, Capella, Gabriel, additional, Valle, Laura, additional, Holinski-Feder, Elke, additional, Laner, Andreas, additional, Steinke-Lange, Verena, additional, Schröck, Evelin, additional, and Rump, Andreas, additional
- Published
- 2023
- Full Text
- View/download PDF
38. Supplementary Figure 4 from Noncanonical TGFβ Pathway Relieves the Blockade of IL1β/TGFβ-Mediated Crosstalk between Tumor and Stroma: TGFBR1 and TAK1 Inhibition in Colorectal Cancer
- Author
-
Guillén Díaz-Maroto, Natalia, primary, Sanz-Pamplona, Rebeca, primary, Berdiel-Acer, Mireia, primary, Cimas, Francisco J., primary, García, Elena, primary, Gonçalves-Ribeiro, Samuel, primary, Albert, Nerea, primary, Garcia-Vicién, Gemma, primary, Capella, Gabriel, primary, Moreno, Victor, primary, Salazar, Ramon, primary, Villanueva, Alberto, primary, and Molleví, David G., primary
- Published
- 2023
- Full Text
- View/download PDF
39. Supplementary Tables S1-S9 from Mutational Heterogeneity in APC and KRAS Arises at the Crypt Level and Leads to Polyclonality in Early Colorectal Tumorigenesis
- Author
-
Gausachs, Mireia, primary, Borras, Ester, primary, Chang, Kyle, primary, Gonzalez, Sara, primary, Azuara, Daniel, primary, Delgado Amador, Axel, primary, Lopez-Doriga, Adriana, primary, San Lucas, F. Anthony, primary, Sanjuan, Xavier, primary, Paules, Maria J., primary, Taggart, Melissa W., primary, Davies, Gareth E., primary, Ehli, Erik A., primary, Fowler, Jerry, primary, Moreno, Victor, primary, Pineda, Marta, primary, You, Y. Nancy, primary, Lynch, Patrick M., primary, Lazaro, Conxi, primary, Navin, Nicholas E., primary, Scheet, Paul A., primary, Hawk, Ernest T., primary, Capella, Gabriel, primary, and Vilar, Eduardo, primary
- Published
- 2023
- Full Text
- View/download PDF
40. Supplementary Figures S1-S15 from Mutational Heterogeneity in APC and KRAS Arises at the Crypt Level and Leads to Polyclonality in Early Colorectal Tumorigenesis
- Author
-
Gausachs, Mireia, primary, Borras, Ester, primary, Chang, Kyle, primary, Gonzalez, Sara, primary, Azuara, Daniel, primary, Delgado Amador, Axel, primary, Lopez-Doriga, Adriana, primary, San Lucas, F. Anthony, primary, Sanjuan, Xavier, primary, Paules, Maria J., primary, Taggart, Melissa W., primary, Davies, Gareth E., primary, Ehli, Erik A., primary, Fowler, Jerry, primary, Moreno, Victor, primary, Pineda, Marta, primary, You, Y. Nancy, primary, Lynch, Patrick M., primary, Lazaro, Conxi, primary, Navin, Nicholas E., primary, Scheet, Paul A., primary, Hawk, Ernest T., primary, Capella, Gabriel, primary, and Vilar, Eduardo, primary
- Published
- 2023
- Full Text
- View/download PDF
41. Supplementary fig 2 from Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent
- Author
-
Piulats, Josep M., primary, Vidal, August, primary, García-Rodríguez, Francisco J., primary, Muñoz, Clara, primary, Nadal, Marga, primary, Moutinho, Catia, primary, Martínez-Iniesta, María, primary, Mora, Josefina, primary, Figueras, Agnés, primary, Guinó, Elisabet, primary, Padullés, Laura, primary, Aytés, Àlvaro, primary, Molleví, David G., primary, Puertas, Sara, primary, Martínez-Fernández, Carmen, primary, Castillo, Wilmar, primary, Juliachs, Merce, primary, Moreno, Victor, primary, Muñoz, Purificación, primary, Stefanovic, Milica, primary, Pujana, Miguel A., primary, Condom, Enric, primary, Esteller, Manel, primary, Germà, Josep R., primary, Capella, Gabriel, primary, Farré, Lourdes, primary, Morales, Albert, primary, Viñals, Francesc, primary, García-del-Muro, Xavier, primary, Cerón, Julián, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
42. Suplementary fig 3 from Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent
- Author
-
Piulats, Josep M., primary, Vidal, August, primary, García-Rodríguez, Francisco J., primary, Muñoz, Clara, primary, Nadal, Marga, primary, Moutinho, Catia, primary, Martínez-Iniesta, María, primary, Mora, Josefina, primary, Figueras, Agnés, primary, Guinó, Elisabet, primary, Padullés, Laura, primary, Aytés, Àlvaro, primary, Molleví, David G., primary, Puertas, Sara, primary, Martínez-Fernández, Carmen, primary, Castillo, Wilmar, primary, Juliachs, Merce, primary, Moreno, Victor, primary, Muñoz, Purificación, primary, Stefanovic, Milica, primary, Pujana, Miguel A., primary, Condom, Enric, primary, Esteller, Manel, primary, Germà, Josep R., primary, Capella, Gabriel, primary, Farré, Lourdes, primary, Morales, Albert, primary, Viñals, Francesc, primary, García-del-Muro, Xavier, primary, Cerón, Julián, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
43. Supplementary fig 5 from Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent
- Author
-
Piulats, Josep M., primary, Vidal, August, primary, García-Rodríguez, Francisco J., primary, Muñoz, Clara, primary, Nadal, Marga, primary, Moutinho, Catia, primary, Martínez-Iniesta, María, primary, Mora, Josefina, primary, Figueras, Agnés, primary, Guinó, Elisabet, primary, Padullés, Laura, primary, Aytés, Àlvaro, primary, Molleví, David G., primary, Puertas, Sara, primary, Martínez-Fernández, Carmen, primary, Castillo, Wilmar, primary, Juliachs, Merce, primary, Moreno, Victor, primary, Muñoz, Purificación, primary, Stefanovic, Milica, primary, Pujana, Miguel A., primary, Condom, Enric, primary, Esteller, Manel, primary, Germà, Josep R., primary, Capella, Gabriel, primary, Farré, Lourdes, primary, Morales, Albert, primary, Viñals, Francesc, primary, García-del-Muro, Xavier, primary, Cerón, Julián, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
44. Supplementary Figure 1 from Lurbinectedin (PM01183), a New DNA Minor Groove Binder, Inhibits Growth of Orthotopic Primary Graft of Cisplatin-Resistant Epithelial Ovarian Cancer
- Author
-
Vidal, August, primary, Muñoz, Clara, primary, Guillén, María-José, primary, Moretó, Jemina, primary, Puertas, Sara, primary, Martínez-Iniesta, María, primary, Figueras, Agnés, primary, Padullés, Laura, primary, García-Rodriguez, Francisco J., primary, Berdiel-Acer, Mireia, primary, Pujana, Miguel A., primary, Salazar, Ramón, primary, Gil-Martin, Marta, primary, Martí, Lola, primary, Ponce, Jordi, primary, Molleví, David G., primary, Capella, Gabriel, primary, Condom, Enric, primary, Viñals, Francesc, primary, Huertas, Dori, primary, Cuevas, Carmen, primary, Esteller, Manel, primary, Avilés, Pablo, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
45. Supplementary Table 1 from Lurbinectedin (PM01183), a New DNA Minor Groove Binder, Inhibits Growth of Orthotopic Primary Graft of Cisplatin-Resistant Epithelial Ovarian Cancer
- Author
-
Vidal, August, primary, Muñoz, Clara, primary, Guillén, María-José, primary, Moretó, Jemina, primary, Puertas, Sara, primary, Martínez-Iniesta, María, primary, Figueras, Agnés, primary, Padullés, Laura, primary, García-Rodriguez, Francisco J., primary, Berdiel-Acer, Mireia, primary, Pujana, Miguel A., primary, Salazar, Ramón, primary, Gil-Martin, Marta, primary, Martí, Lola, primary, Ponce, Jordi, primary, Molleví, David G., primary, Capella, Gabriel, primary, Condom, Enric, primary, Viñals, Francesc, primary, Huertas, Dori, primary, Cuevas, Carmen, primary, Esteller, Manel, primary, Avilés, Pablo, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
46. Supplementary figure 1 from Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent
- Author
-
Piulats, Josep M., primary, Vidal, August, primary, García-Rodríguez, Francisco J., primary, Muñoz, Clara, primary, Nadal, Marga, primary, Moutinho, Catia, primary, Martínez-Iniesta, María, primary, Mora, Josefina, primary, Figueras, Agnés, primary, Guinó, Elisabet, primary, Padullés, Laura, primary, Aytés, Àlvaro, primary, Molleví, David G., primary, Puertas, Sara, primary, Martínez-Fernández, Carmen, primary, Castillo, Wilmar, primary, Juliachs, Merce, primary, Moreno, Victor, primary, Muñoz, Purificación, primary, Stefanovic, Milica, primary, Pujana, Miguel A., primary, Condom, Enric, primary, Esteller, Manel, primary, Germà, Josep R., primary, Capella, Gabriel, primary, Farré, Lourdes, primary, Morales, Albert, primary, Viñals, Francesc, primary, García-del-Muro, Xavier, primary, Cerón, Julián, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
47. Supplementary data from Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent
- Author
-
Piulats, Josep M., primary, Vidal, August, primary, García-Rodríguez, Francisco J., primary, Muñoz, Clara, primary, Nadal, Marga, primary, Moutinho, Catia, primary, Martínez-Iniesta, María, primary, Mora, Josefina, primary, Figueras, Agnés, primary, Guinó, Elisabet, primary, Padullés, Laura, primary, Aytés, Àlvaro, primary, Molleví, David G., primary, Puertas, Sara, primary, Martínez-Fernández, Carmen, primary, Castillo, Wilmar, primary, Juliachs, Merce, primary, Moreno, Victor, primary, Muñoz, Purificación, primary, Stefanovic, Milica, primary, Pujana, Miguel A., primary, Condom, Enric, primary, Esteller, Manel, primary, Germà, Josep R., primary, Capella, Gabriel, primary, Farré, Lourdes, primary, Morales, Albert, primary, Viñals, Francesc, primary, García-del-Muro, Xavier, primary, Cerón, Julián, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
48. Supplementary fig 4 from Orthoxenografts of Testicular Germ Cell Tumors Demonstrate Genomic Changes Associated with Cisplatin Resistance and Identify PDMP as a Resensitizing Agent
- Author
-
Piulats, Josep M., primary, Vidal, August, primary, García-Rodríguez, Francisco J., primary, Muñoz, Clara, primary, Nadal, Marga, primary, Moutinho, Catia, primary, Martínez-Iniesta, María, primary, Mora, Josefina, primary, Figueras, Agnés, primary, Guinó, Elisabet, primary, Padullés, Laura, primary, Aytés, Àlvaro, primary, Molleví, David G., primary, Puertas, Sara, primary, Martínez-Fernández, Carmen, primary, Castillo, Wilmar, primary, Juliachs, Merce, primary, Moreno, Victor, primary, Muñoz, Purificación, primary, Stefanovic, Milica, primary, Pujana, Miguel A., primary, Condom, Enric, primary, Esteller, Manel, primary, Germà, Josep R., primary, Capella, Gabriel, primary, Farré, Lourdes, primary, Morales, Albert, primary, Viñals, Francesc, primary, García-del-Muro, Xavier, primary, Cerón, Julián, primary, and Villanueva, Alberto, primary
- Published
- 2023
- Full Text
- View/download PDF
49. Supplementary Figure 5 from Phosphorylation at Ser-181 of Oncogenic KRAS Is Required for Tumor Growth
- Author
-
Barceló, Carles, primary, Paco, Noelia, primary, Morell, Mireia, primary, Alvarez-Moya, Blanca, primary, Bota-Rabassedas, Neus, primary, Jaumot, Montserrat, primary, Vilardell, Felip, primary, Capella, Gabriel, primary, and Agell, Neus, primary
- Published
- 2023
- Full Text
- View/download PDF
50. Supplementary Tables 1 - 3 from Phosphorylation at Ser-181 of Oncogenic KRAS Is Required for Tumor Growth
- Author
-
Barceló, Carles, primary, Paco, Noelia, primary, Morell, Mireia, primary, Alvarez-Moya, Blanca, primary, Bota-Rabassedas, Neus, primary, Jaumot, Montserrat, primary, Vilardell, Felip, primary, Capella, Gabriel, primary, and Agell, Neus, primary
- Published
- 2023
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.