Abstract
Elisabetta De Matteis1, Maria Rosaria Tumolo2, Paolo Tarantino3, Mariangela Ciccarese4, Tiziana Grassi2, Francesco Bagordo5, Maria Rita De Giorgio1, Emanuele Rizzo2 and Graziana Ronzino6
1 U.O.S.V.D. Oncological Screenings, “Vito Fazzi” Hospital, Lecce, Italy
2 Department of Biological and Environmental Sciences and Technology, University of Salento, Lecce, Italy
3 U.O.C. Medical Genetics, “Vito Fazzi” Hospital, Lecce, Italy
4 Strategic Regional Agency for Health and Social of Puglia, Bari, Italy
5 Department of Pharmacy-Pharmaceutical Sciences, University of Bari “Aldo Moro”, Bari, Italy
6 Oncology Unit, “Vito Fazzi” Hospital, Lecce, Italy
Correspondence to:
| Maria Rosaria Tumolo, | email: | mariarosaria.tumolo@unisalento.it |
Keywords: ovarian cancer; BRCA1; BRCA2; mutation
Received: November 24, 2023 Accepted: January 23, 2024 Published: February 22, 2024
ABSTRACT
Objectives: The aim of this exploratory, descriptive study was to characterize the deleterious BRCA1 and BRCA2 variants evaluated by genetic testing in a group of Ovarian cancer patients living in the Salento peninsula (Southern Italy).
Methods: From June 2014 to July 2023, patients with histologically confirmed high-grade serous carcinoma, fallopian tube, or primary peritoneal cancer who were referred to Lecce Familial Cancer Clinic were considered. BRCA-mutation genetic testing was performed on these patients. Socio-demographic data and cancer epidemiology were assessed, and Next Generation Sequencing and Sanger DNA sequencing were performed.
Results: The median age at the diagnosis of 332 ovarian cancer patients collected was 57 years. The pedigree analyses showed that 28.6% had familial cases and 39.7% had sporadic cases. Of the 319 patients submitted to genetic testing, 29.8% were carriers of BRCA1/2 mutation, 75.8% at BRCA1 and 24.2% at BRCA2 gene. Of the 21 BRCA1 mutations, the variant c.5266dupC was the most frequent alteration (28.4%). With respect to BRCA2, 13 mutations were found and the variant c.9676delT was the most frequently recorded (6.3%).
Conclusions: This study reveals that the prevalence of germline mutations in the BRCA1 and BRCA2 genes was higher than reported by other studies. A broader understanding of the prevalence and role of BRCA mutations in development, response to treatment, and prognosis represents an exciting and developing area of ovarian cancer treatment and prevention.
