Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

por Lo Vecchio, Filomena, Tabolacci, Elisabetta, Nobile, Veronica, Pomponi, Maria Grazia, Pietrobono, Roberta, Neri, Giovanni, Amenta, Simona, Candida, Ettore, Grippaudo, Cristina, Lo Cascio, Ettore, Vita, Alessia, Tiberio, Federica, Arcovito, Alessandro, Lattanzi, Wanda, Genuardi, Maurizio, Chiurazzi, Pietro
Publicado 2022

Workload measurement for molecular genetics laboratory: A survey study

por Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra
Publicado 2018

Deregulated expression of the imprinted DLK1-DIO3 region in glioblastoma stemlike cells: tumor suppressor role of lncRNA MEG3

por Buccarelli, Mariachiara, Lulli, Valentina, Giuliani, Alessandro, Signore, Michele, Martini, Maurizio, D’Alessandris, Quintino G, Giannetti, Stefano, Novelli, Agnese, Ilari, Ramona, Giurato, Giorgio, Boe, Alessandra, Castellani, Giorgia, Spartano, Serena, Marangi, Giuseppe, Biffoni, Mauro, Genuardi, Maurizio, Pallini, Roberto, Marziali, Giovanna, Ricci-Vitiani, Lucia
Publicado 2020

Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium

por Guerrini-Rousseau, Léa, Varlet, Pascale, Colas, Chrystelle, Andreiuolo, Felipe, Bourdeaut, Franck, Dahan, Karin, Devalck, Christine, Faure-Conter, Cécile, Genuardi, Maurizio, Goldberg, Yael, Kuhlen, Michaela, Moalla, Salma, Opocher, Enrico, Perez-Alonso, Vanessa, Sehested, Astrid, Slavc, Irene, Unger, Sheila, Wimmer, Katharina, Grill, Jacques, Brugières, Laurence
Publicado 2019

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A p...

por Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl
Publicado 2020

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

por van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John‐Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke, Richard, Spurdle, Amanda B., Macrae, Finlay, Genuardi, Maurizio, Sijmons, Rolf H., Swertz, Morris A.
Publicado 2015

Primary constitutional MLH1 epimutations: a focal epigenetic event

por Dámaso, Estela, Castillejo, Adela, Arias, María del Mar, Canet-Hermida, Julia, Navarro, Matilde, del Valle, Jesús, Campos, Olga, Fernández, Anna, Marín, Fátima, Turchetti, Daniela, García-Díaz, Juan de Dios, Lázaro, Conxi, Genuardi, Maurizio, Rueda, Daniel, Alonso, Ángel, Soto, Jose Luis, Hitchins, Megan, Pineda, Marta, Capellá, Gabriel
Publicado 2018

DNA Methylation in the Diagnosis of Monogenic Diseases

por Cerrato, Flavia, Sparago, Angela, Ariani, Francesca, Brugnoletti, Fulvia, Calzari, Luciano, Coppedè, Fabio, De Luca, Alessandro, Gervasini, Cristina, Giardina, Emiliano, Gurrieri, Fiorella, Lo Nigro, Cristiana, Merla, Giuseppe, Miozzo, Monica, Russo, Silvia, Sangiorgi, Eugenio, Sirchia, Silvia M, Squeo, Gabriella Maria, Tabano, Silvia, Tabolacci, Elisabetta, Torrente, Isabella, Genuardi, Maurizio, Neri, Giovanni, Riccio, Andrea
Publicado 2020

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

por Viel, Alessandra, Bruselles, Alessandro, Meccia, Ettore, Fornasarig, Mara, Quaia, Michele, Canzonieri, Vincenzo, Policicchio, Eleonora, Urso, Emanuele Damiano, Agostini, Marco, Genuardi, Maurizio, Lucci-Cordisco, Emanuela, Venesio, Tiziana, Martayan, Aline, Diodoro, Maria Grazia, Sanchez-Mete, Lupe, Stigliano, Vittoria, Mazzei, Filomena, Grasso, Francesca, Giuliani, Alessandro, Baiocchi, Marta, Maestro, Roberta, Giannini, Giuseppe, Tartaglia, Marco, Alexandrov, Ludmil B., Bignami, Margherita
Publicado 2017

BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories

por Capoluongo, Ettore, La Verde, Nicla, Barberis, Massimo, Bella, Maria Angela, Buttitta, Fiamma, Carrera, Paola, Colombo, Nicoletta, Cortesi, Laura, Genuardi, Maurizio, Gion, Massimo, Guarneri, Valentina, Lorusso, Domenica, Marchetti, Antonio, Marchetti, Paolo, Normanno, Nicola, Pasini, Barbara, Pensabene, Matilde, Pignata, Sandro, Radice, Paolo, Ricevuto, Enrico, Sapino, Anna, Tagliaferri, Pierosandro, Tassone, Pierfrancesco, Trevisiol, Chiara, Truini, Mauro, Varesco, Liliana, Russo, Antonio, Gori, Stefania
Publicado 2019

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

por Tricarico, Rossella, Cortellino, Salvatore, Riccio, Antonio, Jagmohan-Changur, Shantie, van der Klift, Heleen, Wijnen, Juul, Turner, David, Ventura, Andrea, Rovella, Valentina, Percesepe, Antonio, Lucci-Cordisco, Emanuela, Radice, Paolo, Bertario, Lucio, Pedroni, Monica, de Leon, Maurizio Ponz, Mancuso, Pietro, Devarajan, Karthik, Cai, Kathy Q., Klein-Szanto, Andres J.P., Neri, Giovanni, Møller, Pål, Viel, Alessandra, Genuardi, Maurizio, Fodde, Riccardo, Bellacosa, Alfonso
Publicado 2015

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1

por Pastorino, Lorenza, Andreotti, Virginia, Dalmasso, Bruna, Vanni, Irene, Ciccarese, Giulia, Mandalà, Mario, Spadola, Giuseppe, Pizzichetta, Maria Antonietta, Ponti, Giovanni, Tibiletti, Maria Grazia, Sala, Elena, Genuardi, Maurizio, Chiurazzi, Pietro, Maccanti, Gabriele, Manoukian, Siranoush, Sestini, Serena, Danesi, Rita, Zampiga, Valentina, La Starza, Roberta, Stanganelli, Ignazio, Ballestrero, Alberto, Mastracci, Luca, Grillo, Federica, Sciallero, Stefania, Cecchi, Federica, Tanda, Enrica Teresa, Spagnolo, Francesco, Queirolo, Paola, Goldstein, Alisa M., Bruno, William, Ghiorzo, Paola
Publicado 2020

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

por Weren, Robbert D A, van der Post, Rachel S, Vogelaar, Ingrid P, van Krieken, J Han, Spruijt, Liesbeth, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Oliveira, Carla, Kamping, Eveline J, Schackert, Hans K, Ranzani, Guglielmina N, Gómez García, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Cats, Annemieke, Bjørnevoll, Inga, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L
Publicado 2018

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

por Vasen, 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, Gabriela
Publicado 2013

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

por Møller, 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, Jenkins, Mark, 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, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Möslein, Gabriela, Sampson, Julian R, Capella, Gabriel
Publicado 2017

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

por Seppälä, Toni, Pylvänäinen, Kirsi, Evans, Dafydd Gareth, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, 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, Jenkins, Mark, Genuardi, Maurizio, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Frayling, Ian M., Plazzer, John-Paul, Sampson, Julian R., Capella, Gabriel, Möslein, Gabriela, Mecklin, Jukka-Pekka, Møller, Pål
Publicado 2017

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

por Møller, Pål, Seppälä, Toni T, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paulo, Gareth Evans, D, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf H, Jeffries, Jacqueline, Vasen, Hans F A, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H, Hill, James, Wijnen, Juul T, Jenkins, Mark A, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Valentin, Mev Dominguez, Frayling, Ian M, Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Sampson, Julian R, Capella, Gabriel
Publicado 2018

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

por Vogelaar, Ingrid P, van der Post, Rachel S, van Krieken, J Han JM, Spruijt, Liesbeth, van Zelst-Stams, Wendy AG, Kets, C Marleen, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Pinheiro, Hugo, Oliveira, Carla, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, de Ligt, Joep, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian, van de Vorst, Maartje, Goeman, Jelle J, Schackert, Hans K, Ranzani, Guglielmina N, Molinaro, Valeria, Gómez García, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Bjørnevoll, Inga, Høberg-Vetti, Hildegunn, van Kessel, Ad Geurts, Kuiper, Roland P, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline
Publicado 2017

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...

por 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, Oliveira, Carla
Publicado 2023

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

por Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B. L., Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Hansen, Thomas v. O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M. W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G. E. M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary E., Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, Marjanka K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, Maartje J., Cox, Angela, Pharoah, Paul D. P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth
Publicado 2013