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Article

Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future—Five-Years’ Single-Institution Experience of 762 Consecutive Patients

1
Clinical Unit of Oncogenomics, European Institute of Oncology (IEO), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
2
Department of Diagnostic Services, Division of Pathology, Azienda Socio Sanitaria Territoriale (ASST) Valle Olona, 21013 Gallarate, Italy
3
Division of Gynecologic Surgery, European Institute of Oncology (IEO), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
4
Department of Health Sciences, University of Milan, 20122 Milan, Italy
5
Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy
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Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Milano Bicocca, 20900 Monza, Italy
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Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
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Division of Pathology, European Institute of Oncology (IEO), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
9
Division of Gynecologic Oncology, European Institute of Oncology (IEO), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
10
School of Medicine and Surgery, Università degli Studi di Milano-Bicocca, 20126 Milan, Italy
*
Author to whom correspondence should be addressed.
Academic Editors: Gennaro Cormio and Dolores Di Vizio
Cancers 2022, 14(7), 1638; https://doi.org/10.3390/cancers14071638
Received: 9 February 2022 / Revised: 4 March 2022 / Accepted: 16 March 2022 / Published: 23 March 2022
(This article belongs to the Special Issue Feature Paper in Section "Cancer Biomarkers" in 2022)
Tumor BRCA testing is crucial in the clinical management of women affected by epithelial ovarian cancer (EOC). In the present study, we aimed to report the results of five years of experience in tumor BRCA testing performed in a single-institution diagnostic setting. We profiled 762 consecutive EOC patients with a failure rate of less than 1% and less than two weeks of turnaround time, which is consistent with the clinical needs. We identified 23.4% of cases with pathogenic/likely pathogenic mutations, including 76% of patients affected by germline and 24% by somatic alterations. Here, we proposed a comprehensive and multidisciplinary clinical workflow that could be successfully followed for the identification of somatic as well as germline alterations, maximizing the benefit of BRCA testing both from a therapeutic and risk assessment perspective.
The establishment of PARP inhibitors in the treatment of epithelial ovarian carcinoma (EOC) has prompt BRCA assessment at the time of diagnosis. We described our five years of experience of tumor BRCA testing, as part of a multidisciplinary workflow for the management of EOC patients. We used a BRCA next-generation sequencing (NGS) test for profiling formalin-fixed, paraffin-embedded (FFPE) EOCs of 762 consecutive patients, with a success rate of 99.7% and a median turnaround time of 12 days. We found 178 (23.4%) cases with pathogenic/likely pathogenic (P/LP) mutations, 74 (9.7%) cases with variants of uncertain significance and 508 (66.8%) wild type tumors. Among 174 patients without P/LP mutations and investigated with multiple-ligation probe-amplification analysis on peripheral blood, two (1.1%) were positive for large rearrangements. Patients with P/LP alterations and/or with positive family history were referred to genetic counselling. Comparing tumor and blood NGS test results of 256 patients, we obtained a tumor test negative predictive value of 100% and we defined 76% of P/LP alterations as germline and 24% as somatic variants. The proposed workflow may successfully identify EOC patients with BRCA1/2 alteration, guiding both therapeutic and risk assessment clinical decisions. View Full-Text
Keywords: BRCA; epithelial ovarian carcinoma; NGS BRCA; epithelial ovarian carcinoma; NGS
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MDPI and ACS Style

Fumagalli, C.; Betella, I.; Rappa, A.; di Giminiani, M.; Gaiano, M.; De Vitis, L.A.; Zambetti, B.; Vacirca, D.; Multinu, F.; Venetis, K.; Colombo, N.; Barberis, M.; Guerini Rocco, E. Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future—Five-Years’ Single-Institution Experience of 762 Consecutive Patients. Cancers 2022, 14, 1638. https://doi.org/10.3390/cancers14071638

AMA Style

Fumagalli C, Betella I, Rappa A, di Giminiani M, Gaiano M, De Vitis LA, Zambetti B, Vacirca D, Multinu F, Venetis K, Colombo N, Barberis M, Guerini Rocco E. Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future—Five-Years’ Single-Institution Experience of 762 Consecutive Patients. Cancers. 2022; 14(7):1638. https://doi.org/10.3390/cancers14071638

Chicago/Turabian Style

Fumagalli, Caterina, Ilaria Betella, Alessandra Rappa, Maria di Giminiani, Michela Gaiano, Luigi Antonio De Vitis, Benedetta Zambetti, Davide Vacirca, Francesco Multinu, Konstantinos Venetis, Nicoletta Colombo, Massimo Barberis, and Elena Guerini Rocco. 2022. "Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future—Five-Years’ Single-Institution Experience of 762 Consecutive Patients" Cancers 14, no. 7: 1638. https://doi.org/10.3390/cancers14071638

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