Abstract
The PARP inhibitor olaparib has been approved in the maintenance setting of platinum-sensitive epithelial ovarian cancer patients with germline or somatic BRCA1/2 mutation. Therefore, the availability of a tumor BRCA test has become a clinical need. We report the results of the clinical implementation of a tumor BRCA test within the frame of an institutional workflow for the management of patients with nonmucinous and nonborderline epithelial ovarian cancer. In total, 223 patients with epithelial ovarian cancer were prospectively analyzed. BRCA1/2 status was evaluated on formalin-fixed, paraffin-embedded tumor specimens using next-generation sequencing technology. The tumor BRCA test had a success rate of 99.1% (221 of 223 successfully analyzed cases) and a median turnaround time of 17 calendar days. Among the 221 cases, BRCA1 or BRCA2 pathogenic/likely pathogenic mutations were found in 62 (28.1%) cases and variants of uncertain significance in 25 (11.3%) cases. The concordance rate between tumor BRCA test results and germline BRCA1/2 status was 87%, with five cases harboring pathogenic/likely pathogenic somatic-only mutations. The next-generation, sequencing-based tumor BRCA test showed a high success rate and a turnaround time compatible with clinical purposes. The tumor BRCA test could be implemented in a molecular diagnostic setting and it may guide the clinical management of patients with epithelial ovarian cancer.
Highlights
Epithelial ovarian cancer (EOC) is the seventh most common cancer among women worldwide [1], frequently diagnosed in an advanced stage and with an aggressive clinical course [2]
All the FFPE tumor samples were considered adequate for the analysis according to the tumor cell content and the DNA yield
We proposed a workflow for the analysis of tumor BRCA1/2 status in all patients with a diagnosis of nonmucinous and nonborderline EOC, according to the recently updated AIOM (Associazione Italiana di Oncologia Medica)/SIGU (Società Italiana di Genetica Umana)
Summary
Epithelial ovarian cancer (EOC) is the seventh most common cancer among women worldwide [1], frequently diagnosed in an advanced stage and with an aggressive clinical course [2]. The introduction of poly (adenosine diphosphate (ADP)-ribose) polymerase inhibitors (PARPi) has marked a crucial step forward in the treatment of these patients. European Medicines Agency (EMA) approvals in different clinical settings [4,5,6]. Olaparib has been approved in Europe for the maintenance of platinum-sensitive recurrent EOCs patients with a somatic or germline BRCA1/2 mutation [4]. Based on the recent striking results of SOLO 1 trial, olaparib will be used as maintenance therapy even for women with newly diagnosed advanced
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