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
Colombo, Mara, Mondini, Patrizia, Minenza, Elisa, Foglia, Claudia, Mosconi, Annamaria, Molica, Carmen, Pistola, Lorenza, Ludovini, Vienna, Radice, Paolo
Published in Frontiers in oncology (23.10.2023)
Published in Frontiers in oncology (23.10.2023)
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Journal Article
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
Colombo, Mara, Mondini, Patrizia, Minenza, Elisa, Foglia, Claudia, Mosconi, Annamaria, Molica, Carmen, Pistola, Lorenza, Ludovini, Vienna, Radice, Paolo
Published in Frontiers in oncology (21.03.2023)
Published in Frontiers in oncology (21.03.2023)
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Journal Article
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations
Colombo, Mara, De Vecchi, Giovanna, Caleca, Laura, Foglia, Claudia, Ripamonti, Carla B, Ficarazzi, Filomena, Barile, Monica, Varesco, Liliana, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo
Published in PloS one (22.02.2013)
Published in PloS one (22.02.2013)
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Journal Article
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
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
Published in Cancers (01.03.2019)
Published in Cancers (01.03.2019)
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Journal Article
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1
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
Published in PloS one (06.02.2014)
Published in PloS one (06.02.2014)
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PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo
Catucci, Irene, Peterlongo, Paolo, Ciceri, Sara, Colombo, Mara, Pasquini, Graziella, Barile, Monica, Bonanni, Bernardo, Verderio, Paolo, Pizzamiglio, Sara, Foglia, Claudia, Falanga, Anna, Marchetti, Marina, Galastri, Laura, Bianchi, Tiziana, Corna, Chiara, Ravagnani, Fernando, Bernard, Loris, Fortuzzi, Stefano, Sardella, Domenico, Scuvera, Giulietta, Peissel, Bernard, Manoukian, Siranoush, Tondini, Carlo, Radice, Paolo
Published in Genetics in medicine (01.09.2014)
Published in Genetics in medicine (01.09.2014)
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Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
Colombo, Mara, Blok, Marinus J, Whiley, Phillip, Santamariña, Marta, Gutiérrez-Enríquez, Sara, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, De Vecchi, Giovanna, Brandão, Rita D, Tserpelis, Demis, Brown, Melissa, Blanco, Ana, Bonache, Sandra, Menéndez, Mireia, Houdayer, Claude, Foglia, Claudia, Fackenthal, James D, Baralle, Diana, Wappenschmidt, Barbara, Díaz-Rubio, Eduardo, Caldés, Trinidad, Walker, Logan, Díez, Orland, Vega, Ana, Spurdle, Amanda B, Radice, Paolo, De La Hoya, Miguel
Published in Human molecular genetics (15.07.2014)
Published in Human molecular genetics (15.07.2014)
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Journal Article
Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1: e86924
Caleca, Laura, Putignano, Anna Laura, Colombo, Mara, Congregati, Caterina, Sarkar, Mohosin, Magliery, Thomas J, Ripamonti, Carla B, Foglia, Claudia, Peissel, Bernard, Zaffaroni, Daniela
Published in PloS one (01.02.2014)
Published in PloS one (01.02.2014)
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Journal Article
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
Colombo, Mara, Mondini, Patrizia, Minenza, Elisa, Foglia, Claudia, Mosconi, Annamaria, Molica, Carmen, Pistola, Lorenza, Ludovini, Vienna, Radice, Paolo
Published in Frontiers in oncology (01.01.2023)
Published in Frontiers in oncology (01.01.2023)
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