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This study profiles the genetic landscape of Tunisian patients with familial or sporadic high-grade serous ovarian carcinoma (HGSOC) to support therapeutic decision-making and genetic counseling. Targeted next-generation sequencing was applied to 54 patients using DNA from FFPE tumor tissues and blood. Pathogenic variants were found in germline and somatic compartments, including recurrent BRCA1 events and variants of uncertain significance.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/germline-and-somatic-mutational-variants-of-tunisian-high-grade-serous-ovarian-cancer-identified-by-next-generation-sequencing/370986/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/germline-and-somatic-mutational-variants-of-tunisian-high-grade-serous-ovarian-cancer-identified-by-next-generation-sequencing/370986.png","ImageObject",300,407,{"name":92,"@type":93},"Anna Hans","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-29","2026-09-23",true,{"@type":102,"interactionType":103,"userInteractionCount":44},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What was the study’s main goal?","Question",{"text":112,"@type":113},"To investigate the genetic landscape of Tunisian patients with familial or sporadic high-grade serous ovarian carcinoma to guide therapeutic strategies and genetic counseling.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How were genetic variants identified?",{"text":117,"@type":113},"Through targeted next-generation sequencing using DNA extracted from FFPE tumor tissues and blood samples, analyzing a cancer panel of 31 cancer-associated genes.",{"name":119,"@type":110,"acceptedAnswer":120},"What were the key findings about pathogenic variants?",{"text":121,"@type":113},"Germline and somatic pathogenic variants were detected in 20.3% and 27.77% of patients, respectively, with some patients carrying both BRCA1 germline and somatic pathogenic variants and recurrent BRCA1 events observed.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},370986,1790646909,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":44,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":52,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144},5909892332657,"https://ap-avatar.wpscdn.com/davatar_994ba38a5ba835b3df7d355c54d3ed8d","Ammous-Boukhris etal. BMC Cancer (2025) 25:1542 BMC Cancer  \n[https://doi.org/10.1186/s12885-025-14989-x](https://doi.org/10.1186/s12885-025-14989-x)  \nRESEARCH Open Access  \nGermline and somatic mutational variants   of Tunisian high grade serous ovarian cancer identified by next-generation sequencing  \nNihel Ammous-Boukhris 1, Rania Abdelmaksoud-Dammak 1, Wala Ben Kridis2, Dorra Ben-Ayed-Guerfali 1, Arwa Shtaiwi Abed 1, Souhir Guidara3, Slim Charfi4, Ameni Feki2, Tahia Sellami-Boudawara4, Hassen Kamoun3, Afef Khanfir2, Jamel Daoud5 and Raja Mokdad-Gargouri 1*  \nAbstract  \nBackground 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.  \nMethods 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 paraffinembedded (FFPE) tumor tissues and blood samples.  \nResults 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.  \nKeywords High grade serous ovarian cancer, BRCA1/BRCA2, Genetic testing, Targeted-NGS, Germline variant, Somatic variant  \n*Correspondence:  \nRaja Mokdad-Gargouri  \n[raja.gargouri@cbs. rnrt.tn](raja.gargouri@cbs. rnrt.tn)  \n1Laboratory of Eucaryotes Molecular Biotechnology, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax 3018, Tunisia  \n2Department of Medical Oncology, Habib Bourguiba Hospital, Sfax, Tunisia  \n3Department of Genetics, Hedi Chaker Hospital, Sfax, Tunisia 4Department of Anatomopathology, Habib Bourguiba Hospital, Sfax, Tunisia  \n5Department of Radiotherapy, Habib Bourguiba Hospital, Sfax, Tunisia  \n© The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creati](http://creati)[vecommons.org/l](vecommons.org/l)icenses/by-nc-nd/4.0/.  \nAmmous-Boukhris et al. BMC Cance","cbCaipEYHchJWgfe","https://ap.wps.com/l/cbCaipEYHchJWgfe","pdf",1489001,"English","# Abstract\n# Background\n# Methods\n# Results\n# Conclusion\n# Keywords","[{\"question\":\"What was the study’s main goal?\",\"answer\":\"To investigate the genetic landscape of Tunisian patients with familial or sporadic high-grade serous ovarian carcinoma to guide therapeutic strategies and genetic counseling.\"},{\"question\":\"How were genetic variants identified?\",\"answer\":\"Through targeted next-generation sequencing using DNA extracted from FFPE tumor tissues and blood samples, analyzing a cancer panel of 31 cancer-associated genes.\"},{\"question\":\"What were the key findings about pathogenic variants?\",\"answer\":\"Germline and somatic pathogenic variants were detected in 20.3% and 27.77% of patients, respectively, with some patients carrying both BRCA1 germline and somatic pathogenic variants and recurrent BRCA1 events observed.\"}]","Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing | PDF",1790190951,25]