Abstract
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.
Highlights
About 10–15% of ovarian cancers are diagnosed in patients who have a hereditary breast and ovarian cancer (HBOC) syndrome because they are carriers of a BRCA1/2 pathogenic variant (PV) [1].In Italy, 5200 new ovarian cancers were diagnosed in 2018, with an overall survival of five years at 39%
2017-06-29-v2.5.1.pdf) or the ACMG/AMP [10] guidelines (88% and 24% of centers, respectively). This survey was initiated as a result of a collaborative working group of four scientific societies with the aim of understanding the existing resources of Italian molecular and genomic diagnostic laboratories to perform and report BRCA1/2 testing, both germline and somatic, in ovarian cancer patients
Italian oncology departments were asked to describe the care pathways followed by the patients to obtain a germline or somatic BRCA1/2 test when not available in the same institution
Summary
About 10–15% of ovarian cancers are diagnosed in patients who have a hereditary breast and ovarian cancer (HBOC) syndrome because they are carriers of a BRCA1/2 pathogenic variant (PV) [1].In Italy, 5200 new ovarian cancers were diagnosed in 2018, with an overall survival of five years at 39%. The evaluation of BRCA1/2 status can be performed on: (a) Blood samples, to identify a germline PV that is useful to diagnose a HBOC and to identify individuals at high risk; (b) Ovarian cancer specimens (fresh, frozen, or formalin-fixed paraffin embedded–FFPE) to recognize both somatic and germline PVs that allow patients to be eligible to specific treatments, such as Poly (ADP-ribose) polymerase (PARP1)-inhibitors [3]. The recognition of a PV on a tumor sample prompts reflex testing on blood in order to distinguish between germline and somatic variants At this stage, the evaluation of large genomic rearrangements in BRCA1/2 genes requires specific methods and can still be challenging, especially in tissue samples [3,4]
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