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Background <p>Ovarian cancer (OC) is one of the leading causes of death from gynecological cancers in the world, primarily due to late stage diagnosis. Genetic mutations in genes involved in key cellular functions such as <i>BRCA1</i>, and <i>BRCA2</i> significantly contribute to ovarian tumorigenesis. This study investigates the genetic landscape of Tunisian patients with familial or sporadic high-grade serous ovarian carcinoma (HGSOC) to guide therapeutic strategies and genetic counseling.</p> Methods <p>We conducted a genetic study by targeted Next-Generation Sequencing (NGS) on 54 Tunisian HGSOC patients. A cancer panel including 31 cancer-associated genes was used to analyze DNA extracted from both paraffin-embedded (FFPE) tumor tissues and blood samples.</p> Results <p>Germline and somatic pathogenic variants (PVs) were detected in 20.3% and 27.77% of patients respectively. Five patients carried both germline and somatic <i>BRCA1</i> PVs. Somatic PVs were identified in Homologous Recombination-related genes including <i>ATM</i>,<i> RAD50</i>, and <i>BRIP1</i>. Interestingly, four recurrent <i>BRCA1</i> PVs were observed, one of them is novel. Germline <i>BRCA1/2</i> PVs were significantly more frequent in patients under 50 years of age and were associated with improved overall survival. Additionally, 19 variants of uncertain significance (VUS) were detected.</p> Conclusion <p>This study provides the first comprehensive genetic profiling of Tunisian HGSOC patients, highlighting the prevalence of pathogenic mutations in key cancer-related genes. These findings emphasize the importance of genetic screening in the management and treatment of OC particularly in populations with unique genetic backgrounds.</p>

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Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月9日

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  • Nihel Ammous-Boukhris,
  • Rania Abdelmaksoud-Dammak,
  • Wala Ben Kridis,
  • Dorra Ben-Ayed-Guerfali,
  • Arwa Shtaiwi Abed,
  • Souhir Guidara,
  • Slim Charfi,
  • Ameni Feki,
  • Tahia Sellami-Boudawara,
  • Hassen Kamoun,
  • Afef Khanfir,
  • Jamel Daoud,
  • Raja Mokdad-Gargouri

摘要

Background

Ovarian cancer (OC) is one of the leading causes of death from gynecological cancers in the world, primarily due to late stage diagnosis. Genetic mutations in genes involved in key cellular functions such as BRCA1, and BRCA2 significantly contribute to ovarian tumorigenesis. This study investigates the genetic landscape of Tunisian patients with familial or sporadic high-grade serous ovarian carcinoma (HGSOC) to guide therapeutic strategies and genetic counseling.

Methods

We conducted a genetic study by targeted Next-Generation Sequencing (NGS) on 54 Tunisian HGSOC patients. A cancer panel including 31 cancer-associated genes was used to analyze DNA extracted from both paraffin-embedded (FFPE) tumor tissues and blood samples.

Results

Germline and somatic pathogenic variants (PVs) were detected in 20.3% and 27.77% of patients respectively. Five patients carried both germline and somatic BRCA1 PVs. Somatic PVs were identified in Homologous Recombination-related genes including ATM, RAD50, and BRIP1. Interestingly, four recurrent BRCA1 PVs were observed, one of them is novel. Germline BRCA1/2 PVs were significantly more frequent in patients under 50 years of age and were associated with improved overall survival. Additionally, 19 variants of uncertain significance (VUS) were detected.

Conclusion

This study provides the first comprehensive genetic profiling of Tunisian HGSOC patients, highlighting the prevalence of pathogenic mutations in key cancer-related genes. These findings emphasize the importance of genetic screening in the management and treatment of OC particularly in populations with unique genetic backgrounds.