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BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report.
Pepe, Francesco; Pisapia, Pasquale; Russo, Gianluca; Nacchio, Mariantonia; Pallante, Pierlorenzo; Vigliar, Elena; De Angelis, Carmine; Insabato, Luigi; Bellevicine, Claudio; De Placido, Sabino; Troncone, Giancarlo; Malapelle, Umberto.
Afiliación
  • Pepe F; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
  • Pisapia P; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
  • Russo G; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
  • Nacchio M; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
  • Pallante P; Institute for Experimental Endocrinology and Oncology (IEOS) "G. Salvatore", National Research Council (CNR), 80131 Naples, Italy.
  • Vigliar E; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
  • De Angelis C; Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Naples, Italy.
  • Insabato L; Department of Advanced Biomedical Sciences, School of Medicine, University of Naples Federico II, 80131 Naples, Italy.
  • Bellevicine C; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
  • De Placido S; Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Naples, Italy.
  • Troncone G; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
  • Malapelle U; Department of Public Health, University of Naples Federico II, 80131 Naples, Italy.
Genes (Basel) ; 12(12)2021 11 28.
Article en En | MEDLINE | ID: mdl-34946865
ABSTRACT
High-grade serous ovarian carcinoma (HGSOC) is the most common subtype of all ovarian carcinomas. HGSOC harboring BRCA1/2 germline or somatic mutations are sensitive to the poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPi). Therefore, detecting these mutations is crucial to identifying patients for PARPi-targeted treatment. In the clinical setting, next generation sequencing (NGS) has proven to be a reliable diagnostic approach BRCA1/2 molecular evaluation. Here, we review the results of our BRCA1/2 NGS analysis obtained in a year and a half of diagnostic routine practice. BRCA1/2 molecular NGS records of HGSOC patients were retrieved from our institutional archive covering the period from January 2020 to September 2021. NGS analysis was performed on the Ion S5™ System (Thermo Fisher Scientific, Waltham, MA, USA) with the Oncomine™ BRCA Research Assay panel (Thermo Fisher Scientific). Variants were classified as pathogenic or likely pathogenic according to the guidelines of the American College of Medical Genetics and Genomics by using the inspection of Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and ClinVar (NCBI) databases. Sixty-five HGSOC patient samples were successfully analyzed. Overall, 11 (16.9%) out of 65 cases harbored a pathogenic alteration in BRCA1/2, in particular, six BRCA1 and five BRCA2 pathogenic variations. This study confirms the efficiency and high sensitivity of NGS analysis in detecting BRCA1/2 germline or somatic variations in patients with HGSOC.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Cistadenocarcinoma Seroso / Proteína BRCA1 / Proteína BRCA2 / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Guideline Límite: Adult / Aged / Aged80 / Female / Humans / Middle aged Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Cistadenocarcinoma Seroso / Proteína BRCA1 / Proteína BRCA2 / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Guideline Límite: Adult / Aged / Aged80 / Female / Humans / Middle aged Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia