Spectrum of Genetic Variants in Hereditary Breast and Ovarian Cancer Syndrome in Tunisian Patients: A Clinical Study with Literature Review

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Published Jun 21, 2026
https://doi.org/10.62438/tunismed.v104i06.6577
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Vol. 104 No. 06 (2026): Tunis Med Jun 2026

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Yasmina Elaribi
Departement of Medical Genetics, Mongi Slim Hospital, La Marsa, Laboratory of fertility and oncofertility LR16SP01, Aziza Othmana hospital, Tunis, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia
Walid Ben Yedder
Departement of Medical Genetics, Mongi Slim Hospital, La Marsa, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia
Imen Rejeb
Departement of Medical Genetics, Mongi Slim Hospital, La Marsa, Maternal and Child health laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia
Houweyda Jilani
Departement of Medical Genetics, Mongi Slim Hospital, La Marsa, Maternal and Child health laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Faculty of Medicine of Tunis, University of Tunis El Manar,Tunis,Tunisia
Molka Sebai
Departement of Medical Genetics, Mongi Slim Hospital, La Marsa, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia
Mouna Ayadi
Department of Medical Oncology, Salah Azaiez Institute, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia
Hend Raies
Department of Medical Oncology, Salah Azaiez Institute, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia
Amel Triki
Department of Obstetrics and Gynecology, Mongi Slim Hospital, La Marsa, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia
Syrine Hizem
Department of Medical Genetics, Mongi Slim Hospital,La Marsa, Human genetics laboratory LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
Lamia Ben Jemaa
Departement of Medical Genetics, Mongi Slim Hospital, La Marsa, Maternal and Child health laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis,Tunisia

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. Among
these 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.

Keywords:

BRCA1, BRCA2, hereditary, Variant, germinal, panel

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