First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report

Autor Ripamonti, Carla B, Colombo, Mara, Mondini, Patrizia, Siranoush, Manoukian, Peissel, Bernard, Bernard, Loris, Radice, Paolo, Carcangiu, Maria Luisa
Vydáno 2013

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

Autor Caleca, Laura, Colombo, Mara, van Overeem Hansen, Thomas, Lázaro, Conxi, Manoukian, Siranoush, Parsons, Michael T., Spurdle, Amanda B., Radice, Paolo
Vydáno v Cancers (Basel) (2019)

Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases

Autor Catucci, Irene, Colombo, Mara, Verderio, Paolo, Bernard, Loris, Ficarazzi, Filomena, Mariette, Frederique, Barile, Monica, Peissel, Bernard, Cattaneo, Elisa, Manoukian, Siranoush, Radice, Paolo, Peterlongo, Paolo
Vydáno 2012

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Autor Colombo, Mara, De Vecchi, Giovanna, Caleca, Laura, Foglia, Claudia, Ripamonti, Carla B., Ficarazzi, Filomena, Barile, Monica, Varesco, Liliana, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo
Vydáno 2013

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers

Autor Oliverio, Andreina, Bruno, Eleonora, Colombo, Mara, Paradiso, Angelo, Tommasi, Stefania, Daniele, Antonella, Terribile, Daniela Andreina, Magno, Stefano, Guarino, Donatella, Manoukian, Siranoush, Peissel, Bernard, Radice, Paolo, Pasanisi, Patrizia
Vydáno v Cancers (Basel) (2020)

Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1

Autor Caleca, Laura, Putignano, Anna Laura, Colombo, Mara, Congregati, Caterina, Sarkar, Mohosin, Magliery, Thomas J., Ripamonti, Carla B., Foglia, Claudia, Peissel, Bernard, Zaffaroni, Daniela, Manoukian, Siranoush, Tondini, Carlo, Barile, Monica, Pensotti, Valeria, Bernard, Loris, Papi, Laura, Radice, Paolo
Vydáno 2014

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

Autor Carvalho, Marcelo, Pino, Maria A., Karchin, Rachel, Beddor, Jennifer, Godinho-Netto, Martha, Mesquita, Rafael D., Rodarte, Renato S., Vaz, Danielle C., Monteiro, Viviane A., Manoukian, Siranoush, Colombo, Mara, Ripamonti, Carla B., Rosenquist, Richard, Suthers, Graeme, Borg, Ake, Radice, Paolo, Grist, Scott A., Monteiro, Alvaro N.A., Billack, Blase
Vydáno 2008

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

Autor Gelli, Elisa, Colombo, Mara, Pinto, Anna Maria, De Vecchi, Giovanna, Foglia, Claudia, Amitrano, Sara, Morbidoni, Valeria, Imperatore, Valentina, Manoukian, Siranoush, Baldassarri, Margherita, Lo Rizzo, Caterina, Catania, Lorenza, Frullanti, Elisa, Tagliafico, Enrico, Cortesi, Laura, Spaggiari, Federica, Mencarelli, Maria Antonietta, Trevisson, Eva, Radice, Paolo, Renieri, Alessandra, Ariani, Francesca
Vydáno v Cancers (Basel) (2019)

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Autor Whiley, Phillip J., de la Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Pedersen, Inge Sokilde, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, de Garibay, Gorka Ruiz, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Ding, Yuan Chun, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava, Chan, Tsun Leung, Colombo, Mara, De Vecchi, Giovanni, Caligo, Maria, Baralle, Diana, Lázaro, Conxi, Couch, Fergus, Radice, Paolo, Southey, Melissa C., Neuhausen, Susan, Houdayer, Claude, Fackenthal, Jim, Van Overeem Hansen, Thomas, Vega, Ana, Diez, Orland, Blok, Rien, Claes, Kathleen, Wappenschmidt, Barbara, Walker, Logan, Spurdle, Amanda B., Brown, Melissa A.
Vydáno v Clin Chem (2013)

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Autor Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Puppa, Lara Della, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J., Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmaña, Judith, Hauke, Jan, Schmutzler, Rita K., Papi, Laura, Pujana, Miguel Angel, Lázaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K., Radice, Paolo
Vydáno v Hum Mol Genet (2015)

The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Autor Colombo, Mara, Lòpez‐Perolio, Irene, Meeks, Huong D., Caleca, Laura, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gómez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Aittomäki, Kristiina, Andrulis, Irene L., Anton‐Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Beeghly‐Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Chang‐Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, García‐Closas, Montserrat, Giles, Graham G., González‐Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L., Jakubowska, Anna, Jung, Audrey, Kosma, Veli‐Matti, Lambrechts, Diether, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Peterlongo, Paolo, Peto, Julian, Pylkäs, Katri, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Thérèse, van Asperen, Christi J., van den Ouweland, Ans M.W., van der Kolk, Lizet E., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Dunning, Alison M., Easton, Douglas F., Henderson, Alex, Hogervorst, Frans B.L., Izatt, Louise, Offitt, Kenneth, Side, Lucy E., van Rensburg, Elizabeth J., EMBRACE, Study, HEBON, Study, McGuffog, Lesley, Antoniou, Antonis C., Chenevix‐Trench, Georgia, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel, Radice, Paolo
Vydáno v Hum Mutat (2018)