A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

por Colombo, Mara, Mondini, Patrizia, Minenza, Elisa, Foglia, Claudia, Mosconi, Annamaria, Molica, Carmen, Pistola, Lorenza, Ludovini, Vienna, Radice, Paolo
Publicado 2023

Corrigendum: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report

por Colombo, Mara, Mondini, Patrizia, Minenza, Elisa, Foglia, Claudia, Mosconi, Annamaria, Molica, Carmen, Pistola, Lorenza, Ludovini, Vienna, Radice, Paolo
Publicado 2023

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

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

Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility

por Ciceri, Sara, Gamba, Beatrice, Corbetta, Paola, Mondini, Patrizia, Terenziani, Monica, Catania, Serena, Nantron, Marilina, Bianchi, Maurizio, D’Angelo, Paolo, Torri, Federica, Macciardi, Fabio, Collini, Paola, Di Martino, Martina, Melchionda, Fraia, Di Cataldo, Andrea, Spreafico, Filippo, Radice, Paolo, Perotti, Daniela
Publicado 2018

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

por 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
Publicado 2018