Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy
Autor: | Giuseppe Viale, Mariarosaria Calvello, Loris Bernard, Nicoletta Colombo, Fedro A. Peccatori, Ilaria Betella, Bernardo Bonanni, Elena Guerini-Rocco, Massimo Barberis, Federica Tomao, Alessandra Rappa, Caterina Fumagalli |
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Přispěvatelé: | Fumagalli, C, Tomao, F, Betella, I, Rappa, A, Calvello, M, Bonanni, B, Bernard, L, Peccatori, F, Colombo, N, Viale, G, Barberis, M, Guerini-Rocco, E |
Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
0301 basic medicine
Oncology Cancer Research medicine.medical_specialty endocrine system diseases Somatic cell Concordance medicine.disease_cause lcsh:RC254-282 Article Germline Olaparib 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine BRCA1/2 Internal medicine Medicine skin and connective tissue diseases Mutation business.industry Molecular pathology medicine.disease lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens female genital diseases and pregnancy complications 030104 developmental biology ovarian cancer chemistry next-generation sequencing 030220 oncology & carcinogenesis PARP inhibitor brca1/2 business Ovarian cancer |
Zdroj: | Cancers, Vol 11, Iss 11, p 1641 (2019) Cancers Volume 11 Issue 11 |
ISSN: | 2072-6694 |
Popis: | 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. |
Databáze: | OpenAIRE |
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