Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia最新文献

{"title":"Intrathecal synthesis of antiviral IgG antibodies in multiple sclerosis.","authors":"Karin Licha, Pavlina Kusnierova, Kamila Zondra Revendova, Vojtech Thon, David Zeman","doi":"10.5507/bp.2026.014","DOIUrl":"https://doi.org/10.5507/bp.2026.014","url":null,"abstract":"<p><p>The Measles-Rubella-Zoster (MRZ) reaction is a test for the intrathecal synthesis of IgG antibodies against measles, rubella and varicella zoster viruses. Since the 1990s, it has been used as an adjunctive test to support the diagnosis of multiple sclerosis (MS), although it has no formal role in current McDonald diagnostic criteria and its clinical relevance remains debated. While early studies considered a single elevated antibody index (M, R or Z) as a positive result, the practice today requires at least two elevated antibody indices (M+R, M+Z, or R+Z), referred to as a polyspecific MRZ reaction (MRZ-2). MRZ-2 is the most specific laboratory marker for MS, with reported specificity exceeding 90%. However, sensitivity varies widely across studies, ranging from approximately 30% to over 70%. In the Czech adult MS population, MRZ-2 sensitivity was recently reported at 32%, markedly lower than the 67% pooled sensitivity reported in a meta-analysis of predominantly German cohorts. Broadening the panel of anti-viral antibodies (MRZ+) has been proposed to improve sensitivity, with parvovirus B19 and mumps virus being the most promising candidates. Further studies are required to determine whether an extended panel can increase sensitivity while maintaining high diagnostic specificity.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148355452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical efficacy of combined sacubitril/valsartan and the Chinese herbal preparation, Qili Qiangxin Capsules on reverse cardiac remodeling in patients with heart failure with reduced ejection fraction.","authors":"Fengyun Chen, Jing Gu","doi":"10.5507/bp.2026.013","DOIUrl":"https://doi.org/10.5507/bp.2026.013","url":null,"abstract":"<p><strong>Background: </strong>Heart failure with reduced ejection fraction (HFrEF) is mainly characterized by cardiac remodeling. Sacubitril/valsartan and Qili Qiangxin Capsules (QLQX a Chinese patent medicine, commonly used for the treatment of CHF with wide acceptance in Chinese patients), each benefit HFrEF alone, however, further high-quality clinical evidence is needed to confirm their combined effect on reversing cardiac remodeling.</p><p><strong>Objective: </strong>To study the role of sacubitril/valsartan plus QLQX in reversing cardiac remodeling in HFrEF patients, and provide evidence for optimizing HFrEF treatment.</p><p><strong>Methods: </strong>124 HFrEF patients were admitted to our hospital from Feb 2023 to Apr 2025. After exclusions, 118 were analyzed and divided by treatment (per electronic records) into two groups: sacubitril/valsartan (58 cases) and sacubitril/valsartan + QLQX (combined group, 60 cases). Primary outcomes included left ventricular ejection fraction (LVEF), left ventricular end-diastolic diameter (LVEDD), left ventricular end-systolic diameter (LVESD), left ventricular global longitudinal strain (GLS), and serum N-terminal pro-brain natriuretic peptide (NT-proBNP). Secondary outcomes included serum cardiac troponin I (cTnI), C-reactive protein (CRP), tumor necrosis factor-α (TNF-α), clinical efficacy, 6-minute walking test (6MWT), Minnesota Living with Heart Failure Questionnaire (MLHFQ), and adverse events.</p><p><strong>Results: </strong>The combined group showed significantly greater improvements in LVEF and absolute GLS (all P<0.001), greater reductions in LVEDD (P=0.026), LVESD (P=0.039) and NT-proBNP (P=0.020) than the monotherapy group. The combined group had greater reductions in CRP (P=0.003), TNF-α (P<0.001) and cTnI (P<0.001), a higher total clinical effective rate (P=0.008), a greater increase in 6MWT (P=0.025) and a greater decrease in MLHFQ score (P<0.001) than the monotherapy group. Adverse event incidence did not differ significantly between groups (P=0.431).</p><p><strong>Conclusion: </strong>Sacubitril/valsartan combined with QLQX effectively improves cardiac structure and function, boosts HFrEF patients' clinical efficacy and quality of life, and is well-tolerated. It offers a reliable option for optimizing HFrEF treatment.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148267908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ceramides versus standard methods in prediction of subclinical atherosclerosis.","authors":"Janula Stromska, Geraldo Neto, Irma Magaly Rivas-Serna, Juan Pablo Gonzalez-Rivas, Manlio Vinciguerra, Roman Panovsky, Radim Brat, Jiri Plasek","doi":"10.5507/bp.2026.005","DOIUrl":"10.5507/bp.2026.005","url":null,"abstract":"<p><strong>Background: </strong>Ceramides are a heterogeneous group of bioactive membrane sphingolipids that play specialized regulatory roles in cellular metabolism depending on their characteristic fatty acyl chain lengths and subcellular distribution. Ceramides have emerged as promising biomarkers for cardiovascular diseases.</p><p><strong>Methods: </strong>Within the prospective Kardiovize study based in Brno, Czech Republic, we aimed to develop two carotid intima-media thickeness (CIMT) prediction models using available variables. One model incorporated, in addition to sex and age, conventional biomarkers (total cholesterol, triglycerides, lipid-lowering therapy), while the other included blood concentrations of selected ceramides. Lipids species were measured by a hyphenated mass spectrometry technique.</p><p><strong>Results: </strong>A total of 139 men (mean age 61.8 ± 16.4) and 222 women (63.9 ± 14.8) were included in the present study. Both approaches yielded almost identical coefficients of determination (54.6 % vs 55.0%) with good classification abilities (weighted kappa 0.69 vs 0.71) in both models. The ceramide (d18:1/18:0) shows a strong negative association with CIMT (β = -1.39, P=0.04), while (d18:1/24:1) shows a positive association with carotid intima-media thickness (β=0.20, P=0.002).</p><p><strong>Conclusion: </strong>The tested ceramides were able to predict subclinical atherosclerosis by carotid intima-media thickness with comparable accuracy to a combination of routinely tested lipids.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":"123-130"},"PeriodicalIF":0.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of motor imagery techniques in the treatment of chronic musculoskeletal pain: A scoping review.","authors":"Petr Kolar, Marketa Kovarova, Barbora Kolarova, Miroslav Haltmar, Martin Jochec, Petr Hlustik","doi":"10.5507/bp.2025.034","DOIUrl":"10.5507/bp.2025.034","url":null,"abstract":"<p><p>Recent neurophysiological studies provide evidence that motor imagery techniques, as a non-pharmacological intervention, reduce the perception of pain intensity at the cortical level and can therefore be used in clinical practice in patients with chronic musculoskeletal pain (CMP). The aim of this scoping review was to evaluate recent randomised controlled trials on the effect of motor imagery techniques for the relief of CMP. Four databases (PubMed, Scopus, Proquest, Cochrane Clinical Trials) were searched to identify randomised controlled trials on the effect of motor imagery techniques on the subjective intensity of musculoskeletal pain lasting for > 3 months in adults. Ten trials (349 participants) were identified for inclusion in this scoping review conducted following the PRISMA-ScR guidelines. The majority of the included studies showed that the motor imagery techniques reduced pain intensity in patients with CMP (namely in patients with post-traumatic phantom limb pain, adhesive capsulitis, impingement syndrome and non‑specific neck pain). immediately after therapeutic sessions, compared with control groups, and also in follow-up measurements up to a few months after baseline measurement. The motor imagery techniques used in the therapeutic sessions lasted more than four weeks, with at least three sessions of at least ten minutes each performed per week. The main limitations were the lack of high‑quality, double‑blind evidence with sufficient numbers of participants. This review summarises randomised controlled trials and shows that motor imagery techniques have considerable potential for the relief of CMP. High-quality evidence is needed to further support the use of motor imagery in clinical practice.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":"80-92"},"PeriodicalIF":0.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145937399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancements in immunotherapy for oropharyngeal cancer: Current landscape and future prospects.","authors":"Xixi Shen, Shizhi He","doi":"10.5507/bp.2025.022","DOIUrl":"10.5507/bp.2025.022","url":null,"abstract":"<p><p>Oropharyngeal cancer (OPC), affecting the tonsils, base of the tongue, and soft palate, has witnessed a notable increase in incidence, particularly among cases linked to human papillomavirus (HPV) infection. This epidemiological shift has led to changes in treatment strategies, with immunotherapy emerging as a promising alternative to conventional modalities such as surgery, radiation, and chemotherapy, which are often associated with significant toxicity. This systematic review aims to evaluate the current landscape of immunotherapeutic interventions in OPC, including immune checkpoint inhibitors, monoclonal antibodies, adoptive T cell therapies, and cancer vaccines. It also explores the influence of HPV status, the development of predictive biomarkers, and the direction of ongoing clinical trials. A comprehensive literature search was conducted using PubMed, Scopus, and Web of Science for studies published between 2010 and 2025. Keywords included \"oropharyngeal cancer,\" \"HPV,\" \"immunotherapy,\" \"checkpoint inhibitors,\" \"monoclonal antibodies,\" \"cancer vaccines,\" and \"T cell therapy.\" Eligible peer-reviewed articles, clinical trials, and reviews focusing on immunotherapy for OPC were included. Data were synthesized based on immunotherapy type, HPV status, clinical outcomes, and biomarker relevance. The review highlights substantial evidence supporting immune checkpoint inhibitors (e.g., anti-PD-1/PD-L1) in improving survival and minimizing adverse effects, particularly in HPV-positive patients. Monoclonal antibodies enhance immune targeting of tumor cells, while cancer vaccines and adoptive T cell therapies show encouraging preliminary outcomes. HPV status and emerging biomarkers are critical in predicting responses and guiding patient-specific therapies. Immunotherapy offers a transformative opportunity in OPC management. Ongoing trials and biomarker research are key to advancing personalized treatment strategies.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":"93-109"},"PeriodicalIF":0.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144877841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Personalised treatment strategies in heart failure: A literature review and new proposed algorithm for device therapy selection.","authors":"Lucie Kohoutkova, Martin Augustynek, Henryk Szymeczek","doi":"10.5507/bp.2025.030","DOIUrl":"10.5507/bp.2025.030","url":null,"abstract":"<p><p>Heart failure remains a major global health challenge, characterized by high morbidity, mortality, and economic burden despite continuous advances in therapy. This review summarizes landmark clinical trials that have shaped current approaches to device therapy in heart failure, including implantable cardioverter-defibrillators, cardiac resynchronization therapy, and emerging conduction system pacing. In addition, it discusses novel prognostic and monitoring methods such as impedance cardiography and dobutamine stress echocardiography, which enable more precise patient assessment. Based on the available clinical data, we propose a new four-step decision algorithm for personalised device therapy selection in heart failure, integrating etiology-specific risk stratification, electrical and functional evaluation, and prognostic modifiers. The integration of evidence-based interventions and phenotype-driven decision-making supports a proactive and individualized approach to improving outcomes and quality of life in patients with heart failure.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":"71-79"},"PeriodicalIF":0.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145598482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment and survival of patients with heart failure: An updated analysis from the Czech National Healthcare Database.","authors":"Josef Danek, Jiri Jarkovsky, Klara Benesova, Milos Taborsky","doi":"10.5507/bp.2025.017","DOIUrl":"10.5507/bp.2025.017","url":null,"abstract":"<p><strong>Background: </strong>Heart failure (HF) remains a major global health challenge. Despite advancements in treatment, the prevalence of HF continues to rise. This study provides an updated analysis of HF incidence, prevalence, hospitalizations, and mortality trends in the Czech Republic from 2015 to 2023.</p><p><strong>Methods: </strong>A retrospective observational study was conducted using anonymized data from the Czech National Healthcare Reimbursement Database (NRHZS). Patients diagnosed with HF (ICD-10 codes I50.x) were included. Descriptive statistics and trend analyses were used to analyse the data.</p><p><strong>Results: </strong>The prevalence of HF has increased significantly, with 374,837 patients registered in 2023. The age-specific prevalence was highest in patients aged 75-79 years (25.1%). The incidence of HF remained stable (51,701 cases in 2023), while hospitalizations declined slightly. The mortality rate showed a minor decrease, with in-hospital mortality stabilizing at ~10% over the past decade. The use of modern HF pharmacotherapy, including SGLT2 inhibitors and ARNIs, has increased substantially over time.</p><p><strong>Conclusions: </strong>Despite improvements in HF management, the burden on the healthcare system remains high. Enhanced outpatient care and adherence to guideline-directed medical therapy (GDMT) are essential for further reducing hospitalizations and improving patient outcomes.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":"110-117"},"PeriodicalIF":0.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144251861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative study of the endometrial microenvironment's immunohistochemical profile in pre-tumour and tumour conditions: endometrial hyperplasia, endometrioid carcinoma, and serous carcinoma.","authors":"Paata Jorjoliani, Zaza Bokhua, George Burkadze, Shota Kepuladze","doi":"10.5507/bp.2026.009","DOIUrl":"https://doi.org/10.5507/bp.2026.009","url":null,"abstract":"<p><strong>Background: </strong>Endometrial carcinogenesis involves complex interactions between hormonal signaling and the local immune microenvironment. While atypical endometrial hyperplasia is a recognized precursor to carcinoma, the spatial and phenotypic evolution of immune and hormonal markers during progression remains incompletely characterized.</p><p><strong>Methods: </strong>A retrospective cohort of 150 endometrial specimens, including hyperplasia without atypia (n=40), hyperplasia with atypia (n=40), endometrioid carcinoma (n=40), and serous carcinoma (n=30), was analyzed using immunohistochemistry for CD3, CD4, CD8, FOXP3, CD68, CD163, estrogen receptor (ER), and progesterone receptor (PR). Digital whole-slide imaging and QuPath were applied to quantify immune cell densities in intratumoral and peritumoral compartments. Correlations between immune markers and hormonal receptors were evaluated, and a subgroup of 27 paired hyperplasia-carcinoma cases was analyzed separately.</p><p><strong>Results: </strong>CD3⁺ and CD8⁺ T-cell densities increased progressively from hyperplasia to carcinoma (P<0.001), with hyperplastic lesions demonstrating predominant peritumoral localization consistent with immune exclusion. FOXP3⁺ regulatory T cells were enriched in neoplastic lesions, particularly in ER/PR-positive tumors. CD8⁺ intratumoral and peritumoral densities showed significant inverse correlations with ER and PR expression (both r=-0.76, P<0.001), whereas FOXP3⁺ infiltration correlated positively with ER and PR (r=0.64, P<0.001). M2 CD163⁺ macrophages demonstrated an inverse association with ER (r=-0.49, P<0.01), while M1 CD68⁺/iNOS macrophages showed no statistically significant correlations. In the paired subgroup, higher peritumoral than intratumoral CD8⁺ densities persisted, indicating residual immune exclusion despite malignant transformation.</p><p><strong>Conclusions: </strong>Endometrial neoplastic progression is characterized by a transition from peritumoral immune exclusion in hyperplasia to increased intratumoral immune infiltration in carcinoma, although this shift is not universal. Hormone receptor-positive tumors exhibit enrichment of FOXP3⁺ regulatory T cells and CD163⁺ macrophages, suggesting hormone-linked immune suppression. These findings highlight combined immune-hormonal biomarkers as potential indicators of progression risk and support further investigation of integrated immunomodulatory and hormone-targeted therapeutic strategies.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147871320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of abnormal expression profile of peripheral blood miRNA and its diagnostic value in grading the severity of COPD.","authors":"Xiaoqing Zhang, Xiujuan Gong, Lianxia Zhang","doi":"10.5507/bp.2026.011","DOIUrl":"https://doi.org/10.5507/bp.2026.011","url":null,"abstract":"<p><strong>Background: </strong>Chronic obstructive pulmonary disease (COPD) is now a major contributor to illness and death on a global scale. Traditional classifications based on pulmonary-function variables like the FEV1 (% predicted), lack sensitivity to early inflammatory changes and disease heterogeneity. In contrast, MiRNAs have emerged as promising biomarkers for respiratory conditions including COPD. The aim of this study was to examine the association between selected MiRNAs and COPD.</p><p><strong>Methods: </strong>A total of 200 COPD patients (GOLD I-IV, n=50 each) and 50 healthy controls were enrolled. Differentially expressed miRNAs were identified from the GEO database and validated by RT-qPCR. Univariate analysis and LASSO regression were used for feature selection. A logistic regression model incorporating selected variables was established for the forecast COPD severity. KEGG pathway enrichment of miR-518b target genes was performed using DAVID.</p><p><strong>Results: </strong>Five miRNAs (miR-216a, miR-518b, miR-106a, miR-1233, and miR-184) were substantially increased in COPD and correlated with disease severity (P<0.001). LASSO regression identified FEV1 (% predicted), DLCO (% predicted), CAT score, miR-518b, and age as key predictors. The combined model showed excellent classification performance (AUC=0.953; sensitivity=92.9%; specificity=81.3%). MiR-518b emerged as a strong independent risk factor (OR=18.91, P=0.003). Gene set enrichment of miR-518b targets pointed to involvement in both the Toll-like receptor and Hippo pathways, implicating its critical roles in inflammation and airway remodeling.</p><p><strong>Conclusions: </strong>MiR-518b is closely associated with COPD severity and may be useful in clinical practice. A model integrating miRNA expression and clinical parameters provides high predictive value for COPD classification and supports precision diagnosis.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147849048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spectrum of germline variants in a group of patients with ovarian cancer.","authors":"Julia Vrtelova, Petr Vrtel, Kristyna Kolarikova, Maria Janikova, Radek Vodicka, Radek Vrtel, Vaclava Curtisova, Martin Prochazka, Veronika Bitnerova","doi":"10.5507/bp.2026.004","DOIUrl":"https://doi.org/10.5507/bp.2026.004","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":520569,"journal":{"name":"Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147877174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}