title: Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
abstract: OBJECTIVE
  Massive parallel sequencing (MPS) is the new frontier for molecular diagnostics. Twenty-four papers regarding BRCA analysis were considered for reviewing all pipelines evaluated in this field.
  
  
  METHODS
  Proposed here is an integrated MPS workflow able to successfully identify BRCA1/2 mutational status on 212 Italian ovarian cancer patients. The review of literature data is reported.
  
  
  RESULTS
  The pipeline can be routinely used as robust molecular diagnostic strategy, being highly sensitive and specific.
  
  
  CONCLUSIONS
  Literature data report that efforts are being made in order to fully translate MPS-based BRCA1/2 gene assay into routine clinical diagnostics. However, this study highlights the need of an integrated MPS BRCA1/2 molecular workflow fulfilling the standardized requirements needed in the routine clinical laboratory practice.
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Angelo
authors: A
authors: Minucci
authors: b 2 Department of Obstetrics and Gynecology, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.
authors: Giovanni
authors: G
authors: Scambia
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Concetta
authors: C
authors: Santonocito
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Paola
authors: P
authors: Concolino
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Giulia
authors: G
authors: Canu
authors: c 3 Department of Science and Innovation Technology (DISIT) University of Piemonte Orientale, Alessandria, Italy.
authors: Flavio
authors: F
authors: Mignone
authors: c 3 Department of Science and Innovation Technology (DISIT) University of Piemonte Orientale, Alessandria, Italy.
authors: Igor
authors: I
authors: Saggese
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Donatella
authors: D
authors: Guarino
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Alessandra
authors: A
authors: Costella
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Rossana
authors: R
authors: Molinario
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Maria
authors: M
authors: De Bonis
authors: b 2 Department of Obstetrics and Gynecology, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.
authors: Gabriella
authors: G
authors: Ferrandina
authors: b 2 Department of Obstetrics and Gynecology, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.
authors: Marco
authors: M
authors: Petrillo
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Giovanni Luca
authors: GL
authors: Scaglione
authors: a 1 Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy.
authors: Ettore
authors: E
authors: Capoluongo
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006761:Hospitals; D006801:Humans; D025202:Molecular Diagnostic Techniques; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics
keywords: BRCA1/2 genes; bioinformatics NGS analysis; hereditary breast and ovarian cancer syndrome; massive parallel sequencing; next-generation sequencing