BRCA1/2 molecular assay for ovarian cancer patients: A survey through Italian departments of oncology and molecular and genomic diagnostic laboratories: Diagnostics

E. Capoluongo, N. La Verde, M. Barberis, M.A. Bella, F. Buttitta, P. Carrera, N. Colombo, L. Cortesi, M. Genuardi, M. Gion, V. Guarneri, D. Lorusso, A. Marchetti, P. Marchetti, N. Normanno, B. Pasini, M. Pensabene, S. Pignata, P. Radice, E. RicevutoA. Sapino, P. Tagliaferri, P. Tassone, C. Trevisiol, M. Truini, L. Varesco, A. Russo, S. Gori

Research output: Contribution to journalArticlepeer-review


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. © 2019 by the authors.
Original languageEnglish
Issue number4
Publication statusPublished - 2019


  • BRCA1/2 assays
  • NGS
  • PARP-1i
  • Somatic BRCA
  • BRCA1 protein
  • BRCA2 protein
  • Article
  • cancer genetics
  • cancer patient
  • controlled study
  • copy number variation
  • denaturing high performance liquid chromatography
  • female
  • genetic counseling
  • genetic screening
  • genomics
  • germline mutation
  • health survey
  • high throughput sequencing
  • human
  • Italy
  • laboratory
  • laboratory test
  • major clinical study
  • medical society
  • molecular biology
  • molecular diagnosis
  • multicenter study
  • multiplex ligation dependent probe amplification
  • multiplex real time polymerase chain reaction
  • ovary cancer
  • pretest posttest design
  • questionnaire
  • Sanger sequencing


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