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Open Access

Peer-reviewed

Research Article

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

  • Mara Colombo ,

    mara.colombo@istitutotumori.mi.it

    Affiliation Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy

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  • Giovanna De Vecchi,

    Affiliation Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy

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  • Laura Caleca,

    Affiliation Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy

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  • Claudia Foglia,

    Affiliation Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy

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  • Carla B. Ripamonti,

    Affiliation Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy

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  • Filomena Ficarazzi,

    Affiliations Cogentech, Consortium for Genomic Technologies, IFOM-IEO Campus, Milano, Italy, IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milano, Italy

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  • Monica Barile,

    Affiliation Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milano, Italy

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  • Liliana Varesco,

    Affiliation Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS San Martino IST- Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy

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  • Bernard Peissel,

    Affiliation Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milano, Italy

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  • Siranoush Manoukian,

    Affiliation Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milano, Italy

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  • Paolo Radice

    Affiliations Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy, IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milano, Italy

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