The latter was performed on FFPE specimens in 96% of the cases, while only one laboratory reported the use of frozen tumor samples. gradient in the country. The new cases, per 100,000 women/year, amount to 15.7%, 15.9%, and 13.8%, in the northern, central, and southern Italian regions, respectively [2]. Identifying PV service providers is crucial to offer appropriate care and preventive programs for both malignancy patients and their healthy relatives. The evaluation of 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 malignancy specimens (new, frozen, or formalin-fixed paraffin embeddedCFFPE) to recognize both somatic and germline PVs that allow patients to be eligible to specific treatments, such as Poly (ADP-ribose) polymerase1 (PARP1)-inhibitors [3]. The acknowledgement of a PV on a tumor sample prompts reflex screening on blood in order to distinguish between germline and somatic variants. At this stage, the evaluation ST-836 hydrochloride of large genomic rearrangements in genes requires specific methods and can still be challenging, especially in tissue samples [3,4]. The portion of individuals with a history of ST-836 hydrochloride breast or ovarian malignancy who meet screening criteria, such as those devised by the National Cancer Comprehensive Network (https://www.nccn.org), was still limited, corresponding to less than 10C20%, between 1999C2013 [5]. Among the many explanations for such a low rate of screening, one was attributed to the lack of uniform geographic distribution of board-certified genetic counsellors [6]. The present study is the result of the collaboration of four scientific societies: The Italian Association of Medical Oncology (Associazione Italiana di Oncologia Medica, AIOM), the Italian Society of Human Genetics (Societ Italiana di Genetica Umana, SIGU), the Societ Italiana di Biochimica Clinica e Biologia Molecolare Clinica (SIBIOC), and the Italian Society of Pathology-Italian Division of the International Academy of Pathology (Societ Italiana di Anatomia Patologica e di Citopatologia DiagnosticaCDivisione Italiana della International Academy of Pathology, SIAPECCIAP). All of them include professionals involved with screening, either directly or indirectly (AIOM users are involved with test prescription and treatment/prevention). In 2015, they started to collaborate for the implementation of the test among Italian ovarian malignancy patients and have produced national recommendations on this matter [7]. In 2017, the working group decided to perform a survey sending two different questionnaires: The first to the Departments of Medical Oncology, and the second to the Diagnostic Laboratories performing the assay in order to gain information about the pathways that ovarian malignancy patients follow in Italy to undergo these molecular assessments. 2. Materials and Methods The aim of this study was to survey the pathway that an ovarian malignancy patient follows to undergo a test, germline and/or somatic test, including pre- and ST-836 hydrochloride post-test genetic counseling. Five components of the process on which the survey was focused were identified: Core business of the screening process for ovarian malignancy patients; Pipelines that were most frequently followed to request the test and which professionals are mainly involved; The screening approaches followed (somatic vs. germline screening) depending on the type of establishing; The process of the referral to genetic counseling of both patients and healthy family members takes place; The volume of activity of the diagnostic laboratories and their procedures for the execution of the assay. A team composed of oncologists, gynecological oncologists, clinical geneticists, diagnostic laboratory experts (including molecular biologists/geneticists/pathologists), belonging to the four scientific societies (AIOMCSIGUCSIBIOCCSIAPEC-IAP) set up two different questionnaires: (1) A 13-item questionnaire to be submitted to all Italian Rabbit Polyclonal to PCNA Departments of Medical Oncology (Supplemental File 1) recorded in the AIOM 2017 White Paper (8); (2) A 15 items questionnaire (Supplemental File 2) to be submitted to diagnostic laboratories performing germline assessments. The questionnaire for Oncologic Centers was published online around the AIOM website (http://www.aiom.it) in a reserved section and was only accessible through a direct link sent by email. After the first invitation, three further reminders were sent ST-836 hydrochloride in order ST-836 hydrochloride to increase the rate of response. The online survey was created using the GoogleDocs? online surveys maker (https://docs.google.com). The questionnaire for the laboratories was sent by email to the diagnostic laboratories. Like the previously explained questionnaire, a link to the AIOM website was embedded in the email. Information about the type of technologies were collected about the use of next-generation sequencing (NGS), Multiplex Amplicon Quantification (MAQ), Multiplex Ligation-dependent Probe Amplification (MLPA), type of CNV analysis, Sanger sequencing, denaturing high-performance liquid chromatography (DHPLC), and.
