Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study
These findings support the clinical utility of NGS-based CNV analysis in FFPE samples when combined with appropriate bioinformatics tools. Integrating visual inspection of CNV plots with automated CNV calling improves the reliability of CNV detection and enhances the interpretation of results from tumor tissue. Accurate CNV detection directly from tumor tissue may reduce the need for additional germline testing, thus shortening turnaround times. Nevertheless, blood-based testing remains mandatory to determine whether detected <i>BRCA</i> CNVs are of hereditary or somatic origin, particularly in cases with a strong clinical suspicion of inherited predisposition due to young age and a personal and/or family history of OC.
Authors
- Elisa De Paolis (ORCID: https://orcid.org/0000-0002-0780-0153)
- Matteo Corsi (ORCID: https://orcid.org/0000-0001-7545-3600)
- Alessia Piermattei (ORCID: https://orcid.org/0000-0001-7164-4952)
- Claudio Ricciardi Tenore (ORCID: https://orcid.org/0000-0002-0567-9003)
- Luciano Giacò (ORCID: https://orcid.org/0000-0003-0657-4323)
- Alessia Perrucci (ORCID: https://orcid.org/0000-0002-7943-5626)
- Paola Concolino (ORCID: https://orcid.org/0000-0002-0523-5744)
- Anna Fagotti (ORCID: https://orcid.org/0000-0001-5579-335X)
- Camilla Nero (ORCID: https://orcid.org/0000-0002-4442-4046)
- Angelo Minucci (ORCID: https://orcid.org/0000-0002-0833-4334)
- Jessica Evangelista
- Giulia Maneri (ORCID: https://orcid.org/0000-0002-6455-8973)
- Maria De Bonis (ORCID: https://orcid.org/0000-0001-5479-2144)
- Alessandra Conca
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Agostino Gemelli University Polyclinic (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-09-08
- DOI
- https://doi.org/10.3390/genes16091052
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00