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Article

The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study

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Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Department of Surgery, Medicine, Dentistry and Morphological Sciences with Transplant Surgery, Oncology and Regenerative Medicine Relevance, University of Modena and Reggio Emilia, 41124 Modena, Italy
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Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy
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Department of Oncology, Arcispedale S. Maria Nuova IRCCS, 42123 Reggio Emilia, Italy
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PhD Program in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, 41124 Modena, Italy
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ASL Lecce, Polo Oncologico “Vito Fazzi”, 73100 Lecce, Italy
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Oncology Unit, Azienda Unità Sanitaria Locale di Modena, Ramazzini Hospital, 41012 Carpi, Italy
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Medical Oncology Unit, Azienda Unità Sanitaria Locale, IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy
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Fondazione Italiana Linfomi (FIL), Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Department of Obstetrics, Gynecology and Pediatrics, Obstetrics and Gynecology Unit, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Department of Laboratory Medicine and Pathology, Diagnostic Hematology and Clinical Genomics Unit, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Center for Genome Research University of Modena and Reggio Emilia, 41124 Modena, Italy
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Author to whom correspondence should be addressed.
Diagnostics 2021, 11(3), 565; https://doi.org/10.3390/diagnostics11030565
Received: 26 February 2021 / Revised: 16 March 2021 / Accepted: 18 March 2021 / Published: 21 March 2021
(This article belongs to the Section Pathology and Molecular Diagnostics)
Previous research involving epithelial ovarian cancer patients showed that, compared to germline BRCA (gBRCA) mutations, somatic BRCA (sBRCA) mutations present a similar positive impact with regard to overall survival (OS) and platinum and PARP (poly (ADP-ribose) polymerase) inhibitor sensitivity. Nevertheless, molecular testing in these studies did not include copy number variation (CNV) analyses of BRCA genes. The aim of this study was to explore the prognostic and predictive role of sBRCA mutations as compared to gBRCA mutations in patients who were also tested for CNVs. Among the 158 patients included in the study, 17.09% of patients carried a pathogenic or likely pathogenic gBRCA variant and 15.19% of patients presented pathogenetic or likely pathogenic sBRCA variants and/or CNVs. Overall, 81.6% of the patients included in this study were diagnosed with a serous histotype, and 77.2% were in advanced stages. Among women diagnosed in advanced stages, gBRCA patients showed better progression-free survival and OS as compared to sBRCA and wild-type patients, whereas sBRCA patients did not show any advantage in outcome as compared to wild-type patients. In this study, the introduction of CNV analyses increased the detection rate of sBRCA mutations, and the resulting classification among gBRCA, sBRCA and wild-type patients was able to properly stratify the prognosis of OC patients. Particularly, sBRCA mutation patients failed to show any outcome advantage as compared to wild-type patients. View Full-Text
Keywords: BRCA; ovarian cancer; copy number variation; genetic testing BRCA; ovarian cancer; copy number variation; genetic testing
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MDPI and ACS Style

Toss, A.; Piombino, C.; Tenedini, E.; Bologna, A.; Gasparini, E.; Tarantino, V.; Filieri, M.E.; Cottafavi, L.; Giovanardi, F.; Madrigali, S.; Civallero, M.; Marcheselli, L.; Marchi, I.; Domati, F.; Venturelli, M.; Barbieri, E.; Grandi, G.; Tagliafico, E.; Cortesi, L. The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study. Diagnostics 2021, 11, 565. https://doi.org/10.3390/diagnostics11030565

AMA Style

Toss A, Piombino C, Tenedini E, Bologna A, Gasparini E, Tarantino V, Filieri ME, Cottafavi L, Giovanardi F, Madrigali S, Civallero M, Marcheselli L, Marchi I, Domati F, Venturelli M, Barbieri E, Grandi G, Tagliafico E, Cortesi L. The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study. Diagnostics. 2021; 11(3):565. https://doi.org/10.3390/diagnostics11030565

Chicago/Turabian Style

Toss, Angela, Claudia Piombino, Elena Tenedini, Alessandra Bologna, Elisa Gasparini, Vittoria Tarantino, Maria E. Filieri, Luca Cottafavi, Filippo Giovanardi, Stefano Madrigali, Monica Civallero, Luigi Marcheselli, Isabella Marchi, Federica Domati, Marta Venturelli, Elena Barbieri, Giovanni Grandi, Enrico Tagliafico, and Laura Cortesi. 2021. "The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study" Diagnostics 11, no. 3: 565. https://doi.org/10.3390/diagnostics11030565

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