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BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories

Italian Society of Clinical Biochemistry and Clinical Molecular Biology—Laboratory Medicine (SIBioC), 20126 Milano, Italy
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Federico II—CEINGE, Biotecnologie Avanzate, 80100 Napoli, Italy
Italian Society of Medical Oncology (AIOM), 20133 Milano, Italy
Oncologia Medica, ASST Fatebenefratelli Sacco, 20157 Milano, Italy
Italian Society of Pathology-Italian Division of the International Academy of Pathology (SIAPEC-IAP), 20162 Milano, Italy
Histopathology and Molecular Diagnostics Unit, Istituto Europeo di Oncologia (IEO), 20122 Milano, Italy
Unità di Oncologia Medica Ospedale Maggiore di Parma, 43126 Parma, Italy
Dipartimento di Scienze Mediche, Orali e Biotecnologiche, Università di Chieti, 66100 Chieti, Italy
Italian Society of Human Genetics (SIGU), 20126 Milano, Italy
Laboratorio di Biologia Molecolare Clinica e Citogenetica, IRCCS Ospedale San Raffaele, 20132 Milano, Italy
Unità di Ginecologia Oncologica Medica, Istituto Europeo di Oncologia (IEO), 20122 Milano, Italy
Department of Oncology and Haematology, Genetic Oncology Unit, University Hospital of Modena, 41125 Modena, Italy
Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, 00168 Rome, Italy
Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, 00167 Rome, Italy
Dipartimento di Scienze Chirurgiche, Oncologiche e Gastroenterologiche, Istituto Oncologico Veneto IRCCS, Oncologia Medica, 35128 Padova, Italy
Clinical Trial Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCSC, 00168 Rome, Italy
UOC di Anatomia Patologica Asl 02 Lanciano-Vasto-Chieti: Università degli Studi “G. D’Annuncio”Chieti-Pescara, 66100 Chieti, Italy
Dipartimento di Scienze Oncologiche Policlinico Umberto I di Roma, 00161 Rome, Italuy
Cell Biology and Biotherapy Unit, Istiuto Nazionale Tumori “Fondazione G. Pascale”-IRCCS, 80131 Naples, Italy
Department of Medical Science, University of Turin, 10124 Turin, Italy
Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Naples, Italy
Department of Urology and Gynecology, Istiuto Nazionale Tumori IRCCS “Fondazione G. Pascale”, 80131 Napoli, Italy
Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milano, Italy
Oncology Network ASL1 Abruzzo, Oncology Territorial Care Unit, Division of Medical Oncology, Department of Biotechnological & Applied Clinical Sciences, University of L’Aquila, 67100 L’Aquila, Italy
Candiolo Cancer Institute-FPO-IRCCS, 10060 Candiolo (To), Italy
Department of Medical Sciences, University of Turin, 10126 Turin, Italy
Department of Experimental & Clinical Medicine, Magna Graecia University, Salvatore Venuta University Campus, 88100 Catanzaro, Italy
Translational Medical Oncology Unit, Department of Experimental and Clinical Medicine, Magna Græcia University and Cancer Center, Campus Salvatore Venuta, 88100 Catanzaro, Italy
Veneto Institute of Oncology IOV—IRCCS, 35128 Padua, Italy
Pathological Anatomy Histology & Cytogenetics, Niguarda Cancer Center, Niguarda Ca’ Granda Hospital, 20162 Milan, Italy
Unit of Hereditary Cancers, IRCCS AOU San Martino—IST, 16132 Genoa, Italy
Department of Surgical, Oncological & Oral Sciences, Section of Medical Oncology, University of Palermo, 90133 Palermo, Italy
Oncology Department, IRCCS Sacro Cuore Don Calabria, 37024 Negrar, Verona, Italy
Author to whom correspondence should be addressed.
Diagnostics 2019, 9(4), 146;
Received: 8 August 2019 / Revised: 4 October 2019 / Accepted: 6 October 2019 / Published: 9 October 2019
(This article belongs to the Special Issue Ovarian Cancer: Characteristics, Screening, Diagnosis and Treatment)
In Italy, 5200 new ovarian cancers were diagnosed in 2018, highlighting an increasing need to test women for BRCA1/2. The number of labs offering this test is continuously increasing. The aim of this study was to show the results coming from the intersociety survey coordinated by four different Clinical and Laboratory Italian Scientific Societies (AIOM, SIAPEC-IAP, SIBIOC, and SIGU). A multidisciplinary team belonging to the four scientific societies drew up two different questionnaires: One was targeted toward all Italian Departments of Medical Oncology, and the second toward laboratories of clinical molecular biology. This survey was implemented from September 2017 to March 2018. Seventy-seven out of 305 (25%) Departments of Medical Oncology filled our survey form. Indeed, 59 molecular laboratories were invited. A total of 41 laboratories (70%) filled in the questionnaire. From 2014 to 2017, 16 new molecular laboratories were activated. A total of 12,559 tests were performed in the year 2016, with a mean of 339 tests and a median of 254 tests per laboratory, showing a glimpse of an extreme low number of tests performed per year by some laboratories. In terms of the type and number of professionals involved in the pre- and post-test counseling, results among the onco-genetic team were heterogeneous. Our data show that the number of laboratories providing BRCA1/2 germline assays is significantly increased with further implementation of the somatic test coming soon. The harmonization of the complete laboratory diagnostic path should be encouraged, particularly in order to reduce the gap between laboratories with high and low throughput. View Full-Text
Keywords: NGS; BRCA1/2 assays; somatic BRCA; PARP-1i NGS; BRCA1/2 assays; somatic BRCA; PARP-1i
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Figure 1

MDPI and ACS Style

Capoluongo, E.; La Verde, N.; Barberis, M.; Bella, M.A.; Buttitta, F.; Carrera, P.; Colombo, N.; Cortesi, L.; Genuardi, M.; Gion, M.; Guarneri, V.; Lorusso, D.; Marchetti, A.; Marchetti, P.; Normanno, N.; Pasini, B.; Pensabene, M.; Pignata, S.; Radice, P.; Ricevuto, E.; Sapino, A.; Tagliaferri, P.; Tassone, P.; Trevisiol, C.; Truini, M.; Varesco, L.; Russo, A.; Gori, S. BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories. Diagnostics 2019, 9, 146.

AMA Style

Capoluongo E, La Verde N, Barberis M, Bella MA, Buttitta F, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, Guarneri V, Lorusso D, Marchetti A, Marchetti P, Normanno N, Pasini B, Pensabene M, Pignata S, Radice P, Ricevuto E, Sapino A, Tagliaferri P, Tassone P, Trevisiol C, Truini M, Varesco L, Russo A, Gori S. BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories. Diagnostics. 2019; 9(4):146.

Chicago/Turabian Style

Capoluongo, Ettore, Nicla La Verde, Massimo Barberis, Maria A. Bella, Fiamma Buttitta, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, Valentina Guarneri, Domenica Lorusso, Antonio Marchetti, Paolo Marchetti, Nicola Normanno, Barbara Pasini, Matilde Pensabene, Sandro Pignata, Paolo Radice, Enrico Ricevuto, Anna Sapino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Chiara Trevisiol, Mauro Truini, Liliana Varesco, Antonio Russo, and Stefania Gori. 2019. "BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories" Diagnostics 9, no. 4: 146.

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