Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

• Daria C. Loconte ,

  Contributed equally to this work with: Daria C. Loconte, Valentina Grossi, Cristina Bozzao

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Valentina Grossi ,

  Contributed equally to this work with: Daria C. Loconte, Valentina Grossi, Cristina Bozzao

  Affiliations Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy, National Cancer Institute, IRCCS Oncologico Giovanni Paolo II, Bari, Italy

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• Cristina Bozzao ,

  Contributed equally to this work with: Daria C. Loconte, Valentina Grossi, Cristina Bozzao

  Affiliation Department of Clinical and Molecular Medicine, "Sapienza" University of Rome, Rome, Italy

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• Giovanna Forte,

  Affiliation Cancer Genetics Laboratory, IRCCS “S. de Bellis”, Castellana Grotte, Italy

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• Rosanna Bagnulo,

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Alessandro Stella,

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Patrizia Lastella,

  Affiliation Center for Rare Diseases-Internal Medicine "C. Frugoni", University Hospital of Bari, Bari, Italy

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• Mario Cutrone,

  Affiliation US Dermatologia Pediatrica, Ospedale dell'Angelo Ulss 12 Mestre, Venezia, Italy

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• Francesco Benedicenti,

  Affiliation Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy

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• Francesco C. Susca,

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Margherita Patruno,

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Dora Varvara,

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Aldo Germani,

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Luciana Chessa,

  Affiliation Department of Clinical and Molecular Medicine, "Sapienza" University of Rome, Rome, Italy

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• Nicola Laforgia,

  Affiliation Neonatology and NICU Section, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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• Romano Tenconi,

  Affiliation University of Padova, Padova, Italy

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• Cristiano Simone,

  Affiliations Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy, National Cancer Institute, IRCCS Oncologico Giovanni Paolo II, Bari, Italy

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•  [ ... ],
• Nicoletta Resta

  * E-mail: nicoletta.resta@uniba.it

  Affiliation Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari ‘Aldo Moro’, Bari, Italy

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