Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience
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-<i>BRCA</i> homologous repair genes. The aim of this study was to retrospectively evalu...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-12-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/12/3054 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Chiara Cassani |
| collection | DOAJ |
| description | 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-<i>BRCA</i> 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 <i>BRCA1</i>, 63 <i>BRCA2</i>, 11 <i>CHEK2</i>, 7 <i>PALB2</i>, 4 <i>ATM</i>, 1 <i>ERCC5</i>, 1 <i>RAD51C</i>, 1 <i>CDH1</i>, 1 <i>MEN1, 1 MLH1</i> 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 <i>BRCA</i> carriers. No neoplastic lesion was diagnosed in the non-<i>BRCA</i> 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-<i>BRCA</i> carriers, STIC and HGSC were only found in <i>BRCA1/2</i> mutation carriers. |
| first_indexed | 2024-03-09T17:08:09Z |
| format | Article |
| id | doaj.art-2bf1f021a8a84381bed46506983d3566 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T17:08:09Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-2bf1f021a8a84381bed46506983d35662023-11-24T14:17:52ZengMDPI AGDiagnostics2075-44182022-12-011212305410.3390/diagnostics12123054Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center ExperienceChiara Cassani0Chiara Rossi1Cristina Angela Camnasio2Mario Urtis3Giacomo Fiandrino4Maurizia Grasso5Francesca Zanellini6Marco Lucioni7Gioacchino D’Ambrosio8Alessandro Di Toro9Margherita Rossi10Marianna Roccio11Alberta Ferrari12Simona Secondino13Rossella Elena Nappi14Eloisa Arbustini15Marco Paulli16Arsenio Spinillo17Stefania Cesari18Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Unit of Obstetrics and Gynecology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyDepartment of Molecular Medicine, Unit of Anatomic Pathology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyDepartment of Clinical, Surgical, Diagnostic and Pediatric Sciences, Unit of Obstetrics and Gynecology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyTransplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyUnit of Anatomic Pathology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyTransplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyUnit of Obstetrics and Gynecology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyDepartment of Molecular Medicine, Unit of Anatomic Pathology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyUnit of Anatomic Pathology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyTransplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyUnit of Obstetrics and Gynecology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyUnit of Obstetrics and Gynecology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyGeneral Surgery III—Breast Surgery, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyUnit of Medical Oncology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyDepartment 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, ItalyTransplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyDepartment of Molecular Medicine, Unit of Anatomic Pathology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyDepartment of Clinical, Surgical, Diagnostic and Pediatric Sciences, Unit of Obstetrics and Gynecology, University of Pavia, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyUnit of Anatomic Pathology, IRCCS San Matteo Hospital Foundation, 27100 Pavia, ItalyRisk-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-<i>BRCA</i> 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 <i>BRCA1</i>, 63 <i>BRCA2</i>, 11 <i>CHEK2</i>, 7 <i>PALB2</i>, 4 <i>ATM</i>, 1 <i>ERCC5</i>, 1 <i>RAD51C</i>, 1 <i>CDH1</i>, 1 <i>MEN1, 1 MLH1</i> 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 <i>BRCA</i> carriers. No neoplastic lesion was diagnosed in the non-<i>BRCA</i> 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-<i>BRCA</i> carriers, STIC and HGSC were only found in <i>BRCA1/2</i> mutation carriers.https://www.mdpi.com/2075-4418/12/12/3054serous tubal intraepithelial carcinomarisk-reducing surgery<i>TP53</i><i>BRCA</i>high-grade serous carcinomanon-<i>BRCA</i> mutations |
| spellingShingle | 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 Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience Diagnostics serous tubal intraepithelial carcinoma risk-reducing surgery <i>TP53</i> <i>BRCA</i> high-grade serous carcinoma non-<i>BRCA</i> mutations |
| title | Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience |
| title_full | Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience |
| title_fullStr | Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience |
| title_full_unstemmed | Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience |
| title_short | Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience |
| title_sort | pathologic findings at risk reducing surgery in i brca i and non i brca i mutation carriers a single center experience |
| topic | serous tubal intraepithelial carcinoma risk-reducing surgery <i>TP53</i> <i>BRCA</i> high-grade serous carcinoma non-<i>BRCA</i> mutations |
| url | https://www.mdpi.com/2075-4418/12/12/3054 |
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