Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. X:X | DOI: 10.5507/bp.2026.004

Spectrum of germline variants in a group of patients with ovarian cancer

Julia Vrtelova, Petr Vrtel, Kristyna Kolarikova, Maria Janikova, Radek Vodicka, Radek Vrtel, Vaclava Curtisova, Martin Prochazka, Veronika Bitnerova
Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic

Introduction: Ovarian tumours represent a highly malignant disease that is often diagnosed at an advanced stage and is associated with a poor prognosis. The most common histological type is high-grade serous carcinoma, characterized by significant genomic instability and homologous recombination defects, particularly due to pathogenic variants in the BRCA1 and BRCA2 genes. The introduction of high throughput sequencing methods has enabled the identification of a broader spectrum of predisposing genes and further emphasised the importance of genetic testing for targeted prevention and individualised treatment.

Methods: The aim of our study was to determine the frequency of germline mutations in 117 unrelated patients diagnosed with ovarian, tubal, or primary peritoneal cancer. We also assessed epidemiological and tumor pathogenesis data. The patients were examined with the "CZECANCA" gene panel sequenced by next-generation sequencing (NGS) on an Illumina platform.

Results: Pathogenic variants were found in 29% of patients, most commonly mutations in the BRCA1 and BRCA2 genes. The median age of patients with high-grade serous ovarian cancer was 61 years. The median age of BRCA1/2-positive women was 54 years, and all had a positive family history of cancer.

Conclusion: Identifying carriers of pathogenic variants enables targeted prevention, earlier detection, and personalized therapy. Despite significant advances in treatment, early diagnosis and screening of at-risk individuals remain a major challenge.

Keywords: ovarian cancer, pathogenic variants, variant of uncertain significant, gene panel, next generation sequencing

Received: December 21, 2025; Revised: February 2, 2026; Accepted: January 29, 2026; Prepublished online: May 4, 2026 

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