Evidence map›Paper›PMID 41068641›Full record

ArticleBMC cancer2025

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

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 and 3 more

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Article in BMC cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Nihel Ammous-BoukhrisLaboratory of Eucaryotes Molecular Biotechnology, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia.
Rania Abdelmaksoud-DammakLaboratory of Eucaryotes Molecular Biotechnology, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia.
Wala Ben KridisDepartment of Medical Oncology, Habib Bourguiba Hospital, Sfax, Tunisia.
Dorra Ben-Ayed-GuerfaliLaboratory of Eucaryotes Molecular Biotechnology, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia.
Arwa Shtaiwi AbedLaboratory of Eucaryotes Molecular Biotechnology, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia.
Souhir GuidaraDepartment of Genetics, Hedi Chaker Hospital, Sfax, Tunisia.
Slim CharfiDepartment of Anatomopathology, Habib Bourguiba Hospital, Sfax, Tunisia.
Ameni FekiDepartment of Medical Oncology, Habib Bourguiba Hospital, Sfax, Tunisia.
Tahia Sellami-BoudawaraDepartment of Anatomopathology, Habib Bourguiba Hospital, Sfax, Tunisia.
Hassen KamounDepartment of Genetics, Hedi Chaker Hospital, Sfax, Tunisia.
Afef KhanfirDepartment of Medical Oncology, Habib Bourguiba Hospital, Sfax, Tunisia.
Jamel DaoudDepartment of Radiotherapy, Habib Bourguiba Hospital, Sfax, Tunisia.
Raja Mokdad-GargouriLaboratory of Eucaryotes Molecular Biotechnology, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia. raja.gargouri@cbs.rnrt.tn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOvarian 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.

methodsWe 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.

resultsGermline 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.

conclusionThis 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.

Indexed as

Cystadenocarcinoma, SerousGerm-Line MutationOvarian NeoplasmsAdultAgedAged, 80 and overBRCA1 ProteinBRCA2 ProteinFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMiddle AgedMutationNeoplasm GradingTunisiaBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1/BRCA2Genetic testingGermline variantHigh grade serous ovarian cancerSomatic variantTargeted-NGS

Identifiers

PMID41068641
PMCPMC12513094

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