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Int J Mol Sci2026;27(9)April 29, 2026Journal Article

Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer.

Maria De Bonis1,2, Pierluigi Iapicca3, Elisa De Paolis1,2, Francesca Brisighelli1,2, Jessica Evangelista1,2, Alessia Perrucci1,2, Claudio Ricciardi Tenore1,2, Giulia Maneri1,2, Paola Concolino1,2, Alessia Piermattei4, Iolanda Mozzetta5, Tina Pasciuto5, Alessia Preziosi6, Luciano Giacò6, Simona Duranti7,8, Camilla Nero7,8, Anna Fagotti7,8, Angelo Minucci1,2
1Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.
2Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
3SOPHiA GENETICS, 1180 Rolle, Switzerland.
4Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
5Research Core Facility Data Collection G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
6Bioinformatics Research Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
7Unit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
8Department of Women, Children and Public Health Sciences Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
PubMed PMC DOI PDF

Abstract

Large genomic rearrangements (LGRs), occurring as copy number alterations (CNAs), represent a clinically relevant class of pathogenic or likely pathogenic variants (P LPVs) in BRCA1/2 (BRCA) genes in ovarian cancer (OC). We evaluated the performance of a high-resolution algorithm integrated into a commercial homologous recombination deficiency (HRD) assay to improve the identification of clinicall…

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