Spectrum of Genetic Variants in Hereditary Breast and Ovarian Cancer Syndrome in Tunisian Patients: A Clinical Study with Literature Review
Year: 2026
Type: article
Study design: Observational Study
Abstract: Introduction: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is an autosomal dominant trait. It is primarily associated with germline variants in the BRCA1and BRCA2 genes, which significantly increase the lifetime risk of developing breast and ovarian cancers.Aim: In this study, we aimed to evaluate the clinical and genetic characteristics of patients suspected of having HBOC syndrome and to determine the prevalence and spectrum of germline pathogenic variants.Methods: We conducted a retrospective study of patients diagnosed with breast and/or ovarian cancer, with or without a family history of cancer, who underwent genetic testing between 2014 and 2024.A total of 91patients underwent Sanger sequencing for recurrent BRCA1/2 variants in the Tunisian population and 56 patients underwent NGS-based gene panel sequencing.Results: We included a total of 147 unrelated patients. Germline heterozygous variant was identified in 33 patients (22.4%) including 26 with isolated breast cancer, 4 with only ovarian cancer, 2 with both breast and ovarian cancers, and one with breast and pancreatic cancers. Amongthese patients’ carriers, 90% had a positive family history of cancer. Variants were found in BRCA1 (n=21), BRCA2 (n=8), ATM (n=3), and RAD51D (n=1).Conclusion : The identification of constitutional variants in hereditary breast and ovarian cancer genes offers diagnostic, prognostic, and therapeutic benefits which allow for appropriate management of high-risk subjects.
Source: La Tunisie Médicale
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7165484157