Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium von 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

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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples von Fackenthal, James D, Yoshimatsu, Toshio, Zhang, Bifeng, de Garibay, Gorka R, Colombo, Mara, De Vecchi, Giovanna, Ayoub, Samantha C, Lal, Kumar, Olopade, Olufunmilayo I, Vega, Ana, Santamariña, Marta, Blanco, Ana, Wappenschmidt, Barbara, Becker, Alexandra, Houdayer, Claude, Walker, Logan C, López-Perolio, Irene, Thomassen, Mads, Parsons, Michael, Whiley, Phillip, Blok, Marinus J, Brandão, Rita D, Tserpelis, Demis, Baralle, Diana, Montalban, Gemma, Gutiérrez-Enríquez, Sara, Díez, Orland, Lazaro, Conxi, Spurdle, Amanda B, Radice, Paolo, de la Hoya, Miguel

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Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations von Colombo, Mara, De Vecchi, Giovanna, Caleca, Laura, Foglia, Claudia, Ripamonti, Carla B, Ficarazzi, Filomena, Barile, Monica, Varesco, Liliana, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo

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Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma von Azzollini, Jacopo, Schiavello, Elisabetta, Buttarelli, Francesca Romana, Clerici, Carlo Alfredo, Tizzoni, Laura, Vecchi, Giovanna De, Capra, Fabio, Pisati, Federica, Biassoni, Veronica, Runza, Letterio, Carrabba, Giorgio, Giangaspero, Felice, Massimino, Maura, Pensotti, Valeria, Manoukian, Siranoush

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The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors von Di Renzo, Francesca, Doneda, Luisa, Menegola, Elena, Sardella, Michele, De Vecchi, Giovanna, Collini, Paola, Spreafico, Filippo, Fossati-Bellani, Franca, Giavini, Erminio, Radice, Paolo, Perotti, Daniela

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Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility von Catucci, Irene, Osorio, Ana, Arver, Brita, Neidhardt, Guido, Bogliolo, Massimo, Zanardi, Federica, Riboni, Mirko, Minardi, Simone, Pujol, Roser, Azzollini, Jacopo, Peissel, Bernard, Manoukian, Siranoush, De Vecchi, Giovanna, Casola, Stefano, Hauke, Jan, Richters, Lisa, Rhiem, Kerstin, Schmutzler, Rita K, Wallander, Karin, Törngren, Therese, Borg, Åke, Radice, Paolo, Surrallés, Jordi, Hahnen, Eric, Ehrencrona, Hans, Kvist, Anders, Benitez, Javier, Peterlongo, Paolo

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The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases von De Vecchi, Giovanna, PhD, Verderio, Paolo, PhD, Pizzamiglio, Sara, MSc, Manoukian, Siranoush, MD, Bernard, Loris, MSc, Pensotti, Valeria, MSc, Volorio, Sara, MSc, Ravagnani, Fernando, MD, Radice, Paolo, PhD, Peterlongo, Paolo, PhD

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Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility von Catucci, I, Osorio, A, Arver, B, Neidhardt, G, Bogliolo, M, Zanardi, F, Riboni, M, Minardi, S, Pujol, R, Azzollini, J

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Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm von Maragliano, Roberta, Libera, Laura, Carnevali, Ileana, Pensotti, Valeria, De Vecchi, Giovanna, Testa, Margherita, Amaglio, Cristina, Leoni, Eleonora, Formenti, Giorgio, Sessa, Fausto, Furlan, Daniela, Uccella, Silvia

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De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg? von Brignola, Clorinda, Volorio, Sara, De Vecchi, Giovanna, Zaffaroni, Daniela, Dall’Olio, Valentina, Mariette, Frederique, Sardella, Domenico, Capra, Fabio, Signoroni, Stefano, Rausa, Emanuele, Vitellaro, Marco, Pensotti, Valeria, Ricci, Maria Teresa

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Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy von Figlioli, Gisella, De Nicolo, Arcangela, Catucci, Irene, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Beltrami, Benedetta, Bonanni, Bernardo, Calvello, Mariarosaria, Bondavalli, Davide, Pasini, Barbara, Vignolo Lutati, Francesca, Ogliara, Paola, Zuradelli, Monica, Pensotti, Valeria, De Vecchi, Giovanna, Volorio, Sara, Verderio, Paolo, Pizzamiglio, Sara, Matullo, Giuseppe, Aneli, Serena, Birolo, Giovanni, Zanardi, Federica, Tondini, Carlo, Zambelli, Alberto, Livraghi, Luca, Franchi, Michela, Radice, Paolo, Peterlongo, Paolo

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

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Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Repo... von Walker, Logan C., Whiley, Phillip J., Houdayer, Claude, Hansen, Thomas V. O., Vega, Ana, Santamarina, Marta, Blanco, Ana, Fachal, Laura, Southey, Melissa C., Lafferty, Alan, Colombo, Mara, De Vecchi, Giovanna, Radice, Paolo, Spurdle, Amanda B.

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Wilms tumor in monozygous twins: clinical, pathological, cytogenetic and molecular case report von Perotti, Daniela, Vecchi, Giovanna De, Lualdi, Elena, Testi, M Adele, Sozzi, Gabriella, Collini, Paola, Spreafico, Filippo, Terenziani, Monica, Fossati-Bellani, Franca, Radice, Paolo

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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity von Colombo, Mara, Lòpez-Perolio, Irene, Meeks, Huong D, Caleca, Laura, Parsons, Michael, Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gomez, 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, Marchand, Loic Le, 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, Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Dunning, Alison M, Easton, Douglas F, Henderson, Alex

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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity von Colombo, Mara, Lòpez-Perolio, Irene, Meeks, Huong D, Caleca, Laura, Parsons, Michael T, Li, Hongyan, De Vecchi, Giovanna, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Garcia, Encarna B Gómez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y, Varesco, Liliana, Bolla, Manjeet K, Michailidou, Kyriaki, Wang, Qin, Aittomäki, Kristiina, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Beeghly-Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Burwinkel, Barbara, Chang-Claude, Jenny, Conroy, Don M, Couch, Fergus J, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, 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, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, See, Mee Hoong, Southey, Melissa C, Swerdlow, Anthony, Teo, Soo H, Toland, Amanda E, Tomlinson, Ian, van Asperen, Christi J, van den Ouweland, Ans MW, Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, kConFab/AOCS Investigators, Easton, Douglas F, Henderson, Alex, Hogervorst, Frans BL, Offitt, Kenneth, Side, Lucy E, van Rensburg, Elizabeth J, Embrace, Study, Hebon, Study, McGuffog, Lesley, Antoniou, Antonis C, Chenevix-Trench, Georgia, Spurdle, Amanda B, Hoya, Miguel de la, Radice, Paolo

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Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases von De Vecchi, Giovanna, Verderio, Paolo, Pizzamiglio, Sara, Manoukian, Siranoush, Barile, Monica, Fortuzzi, Stefano, Ravagnani, Fernando, Pierotti, Marco A, Radice, Paolo, Peterlongo, Paolo

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Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14 von Perotti, Daniela, De Vecchi, Giovanna, Testi, Maria A., Lualdi, Elena, Modena, Piergiorgio, Mondini, Patrizia, Ravagnani, Fernando, Collini, Paola, Di Renzo, Francesca, Spreafico, Filippo, Terenziani, Monica, Sozzi, Gabriella, Fossati-Bellani, Franca, Radice, Paolo

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Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case von Spreafico, Filippo, Terenziani, Monica, Lualdi, Elena, Scarfone, Paola, Collini, Paola, Fossati-Bellani, Franca, Galea, Eulalia, De Vecchi, Giovanna, Sardella, Michele, Sozzi, Gabriella, Radice, Paolo, Perotti, Daniela

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Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14 von Perotti, Daniela, De Vecchi, Giovanna, Testi, Maria A., Lualdi, Elena, Modena, Piergiorgio, Mondini, Patrizia, Ravagnani, Fernando, Collini, Paola, Di Renzo, Francesca, Spreafico, Filippo, Terenziani, Monica, Sozzi, Gabriella, Fossati-Bellani, Franca, Radice, Paolo

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