Caterina Fumagalli

Dr. Caterina Fumagalli

Division of Pathology, Azienda Socio Sanitaria Territoriale (ASST) Valle Olona, 21052 Busto Arsizio (VA), Italy

Research Focus & Metrics

Academic Career Length

5Years (2022-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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23 March 2022 in Cancers
Verified
Journal Article
Open access
PDF file
CFCaterina Fumagalli
Caterina Fumagalli
IBIlaria Betella
Ilaria Betella
ARAlessandra Rappa
Alessandra Rappa
MGMaria Di Giminiani
Maria Di Giminiani
Michela GaianoMichela Gaiano
Michela Gaiano
ERElena Guerini Rocco
Elena Guerini Rocco
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.