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ArticlesPeer ReviewedFull Text
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
Author / Creator: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
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-08, Vol.53 (8), p.548-558
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ArticlesPeer ReviewedFull Text
Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations
Author / Creator:Colombo, Mara ; De Vecchi, Giovanna ; Caleca, Laura ; Foglia, Claudia ; Ripamonti, Carla B. ; Ficarazzi, Filomena ; Barile, Monica ; Varesco, Liliana ; Peissel, Bernard ; Manoukian, Siranoush ; Radice, Paolo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-02, Vol.8 (2), p.e57173-e57173
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Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma
Author / Creator: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
Publisher:Basel: MDPI AG
Journal title:Cancers, 2020-09, Vol.12 (9), p.2503
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ArticlesPeer ReviewedFull Text
The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases
Author / Creator: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
Publisher:New York: Elsevier Ltd
Journal title:Cancer detection and prevention, 2008-01, Vol.32 (2), p.140-143
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ArticlesPeer ReviewedFull Text
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-04, Vol.20 (4), p.452-457
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ArticlesPeer ReviewedFull Text
Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm
Author / Creator: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
Publisher:New York: Springer US
Journal title:Endocrine pathology, 2022-09, Vol.33 (3), p.400-410
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ArticlesPeer ReviewedFull Text
Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Author / Creator:Catucci, I ; Osorio, A ; Arver, B ; Neidhardt, G ; Bogliolo, M ; Zanardi, F ; Riboni, M ; Minardi, S ; Pujol, R ; Azzollini, J
Journal title:Genetics in medicine, 2018-04, Vol.20 (4), p.452
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ArticlesPeer ReviewedFull Text
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2019-03, Vol.11 (3), p.295
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ArticlesPeer ReviewedFull Text
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2021-01, Vol.13 (3), p.532
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ArticlesPeer ReviewedFull Text
Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases
Author / Creator:De Vecchi, Giovanna ; Verderio, Paolo ; Pizzamiglio, Sara ; Manoukian, Siranoush ; Barile, Monica ; Fortuzzi, Stefano ; Ravagnani, Fernando ; Pierotti, Marco A ; Radice, Paolo ; Peterlongo, Paolo
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2009-02, Vol.113 (3), p.607-608
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ArticlesPeer ReviewedFull Text
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14
Author / Creator: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
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-11, Vol.24 (5), p.400-407
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ArticlesPeer ReviewedFull Text
Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14
Author / Creator: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
Journal title:Human mutation, 2004-11, Vol.24 (5), p.400-407
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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

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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

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Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma

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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

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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

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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

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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

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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

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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

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Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases

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Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14

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Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14

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