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Unexpected finding of a rare pathogenic germline BRCA1 variant in an intrahepatic cholangiocarcinoma using the Oncomine Focus DNA assay: clinical and diagnostic implications.
De Bonis, Maria; Mannavola, Francesco; Salvatore, Lisa; De Paolis, Elisa; Nero, Camilla; Giacò, Luciano; Tortora, Giampaolo; Giuliante, Felice; Urbani, Andrea; Scambia, Giovanni; Normanno, Nicola; Minucci, Angelo.
Afiliação
  • De Bonis M; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Mannavola F; Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Salvatore L; Division of Medical Oncology, AOU Consorziale Policlinico di Bari, 70124, Bari, Italy.
  • De Paolis E; Unit of Medical Oncology, Comprehensive Cancer Center, Fondazione Policlinico Universitario, Agostino Gemelli IRCCS, Rome, Italy.
  • Nero C; Catholic University of the Sacred Heart, Rome, Italy.
  • Giacò L; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Tortora G; Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Giuliante F; Catholic University of the Sacred Heart, Rome, Italy.
  • Urbani A; Dipartimento per le Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, UOC Gynecologic Oncology, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.
  • Scambia G; Bioinformatics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Normanno N; Unit of Medical Oncology, Comprehensive Cancer Center, Fondazione Policlinico Universitario, Agostino Gemelli IRCCS, Rome, Italy.
  • Minucci A; Catholic University of the Sacred Heart, Rome, Italy.
Mol Biol Rep ; 50(8): 7113-7120, 2023 Aug.
Article em En | MEDLINE | ID: mdl-37340184
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias dos Ductos Biliares / Colangiocarcinoma / Neoplasias Hepáticas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias dos Ductos Biliares / Colangiocarcinoma / Neoplasias Hepáticas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article