Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience
Chiara Cassani,
Chiara Rossi,
Cristina Angela Camnasio,
Mario Urtis,
Giacomo Fiandrino,
Maurizia Grasso,
Francesca Zanellini,
Marco Lucioni,
Gioacchino D’Ambrosio,
Alessandro Di Toro,
Margherita Rossi,
Marianna Roccio,
Alberta Ferrari,
Simona Secondino,
Rossella Elena Nappi,
Eloisa Arbustini,
Marco Paulli,
Arsenio Spinillo,
Stefania Cesari
Affiliations
Chiara Cassani
Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Unit of Obstetrics and Gynecology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Chiara Rossi
Department of Molecular Medicine, Unit of Anatomic Pathology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Cristina Angela Camnasio
Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Unit of Obstetrics and Gynecology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Mario Urtis
Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Giacomo Fiandrino
Unit of Anatomic Pathology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Maurizia Grasso
Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Francesca Zanellini
Unit of Obstetrics and Gynecology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Marco Lucioni
Department of Molecular Medicine, Unit of Anatomic Pathology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Gioacchino D’Ambrosio
Unit of Anatomic Pathology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Alessandro Di Toro
Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Margherita Rossi
Unit of Obstetrics and Gynecology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Marianna Roccio
Unit of Obstetrics and Gynecology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Alberta Ferrari
General Surgery III—Breast Surgery, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Simona Secondino
Unit of Medical Oncology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Rossella Elena Nappi
Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Research Center for Reproductive Medicine, Gynecological Endocrinology and Menopause, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Eloisa Arbustini
Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Marco Paulli
Department of Molecular Medicine, Unit of Anatomic Pathology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Arsenio Spinillo
Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Unit of Obstetrics and Gynecology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Stefania Cesari
Unit of Anatomic Pathology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, Italy
Risk-reducing surgery (RRS) is recommended in BRCA-mutated carriers because of their increased risk of developing ovarian cancer, while its role is still discussed for women harboring mutations in non-BRCA homologous repair genes. The aim of this study was to retrospectively evaluate the occurrence of pathological findings in a high-risk population undergoing RRS in San Matteo Hospital, Pavia between 2012 and 2022, and correlate their genetic and clinical outcomes, comparing them with a control group. The final cohort of 190 patients included 85 BRCA1, 63 BRCA2, 11 CHEK2, 7 PALB2, 4 ATM, 1 ERCC5, 1 RAD51C, 1 CDH1, 1 MEN1, 1 MLH1 gene mutation carriers and 15 patients with no known mutation but with strong familial risk. Occult invasive serous carcinoma (HGSC) and serous tubal intraepithelial carcinoma (STIC) were diagnosed in 12 (6.3%) women, all of them BRCA carriers. No neoplastic lesion was diagnosed in the non-BRCA group, in women with familial risk, or in the control group. Oral contraceptive use and age ≤45 at surgery were both found to be favorable factors. While p53 signature and serous tubal intraepithelial lesion (STIL) were also seen in the control group and in non-BRCA carriers, STIC and HGSC were only found in BRCA1/2 mutation carriers.