ArticleFrontiers in oncology2022
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Article in Frontiers in oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information.European journal of human genetics : EJHG · 2026Article
- RareOncology letters · 2026Article
- Variations and patterns in germline and somatic testing by age in ovarian, primary peritoneal, and fallopian tube cancer patients: a descriptive analysis in a large, real-world clinical and genetic data registry.Gynecologic oncology reports · 2026Article
- Exploring the somatic mutational landscape of ovarian cancer in Estonia.Acta oncologica (Stockholm, Sweden) · 2026Article
- A lasso-based model combining miRNA and clinical variables predicts future risk of breast and ovarian cancer.Scientific reports · 2026Article
- Unexpected double-hit BRCA1/BRCA2 somatic mutations in a sporadic endometrioid ovarian carcinoma.Molecular biology reports · 2026Article
- Concordance of Genomic Alterations in Ovarian Cancer Tissues and Circulating-Tumor DNA: A Pilot Study.International journal of molecular sciences · 2026Article
- Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.BMC cancer · 2025Article
- Article
- Homologous Recombination Deficiency in Ovarian and Breast Cancers: Biomarkers, Diagnosis, and Treatment.Current issues in molecular biology · 2025Review
- Role of DNA methylation and non‑coding RNAs expression in pathogenesis, detection, prognosis, and therapy‑resistant ovarian carcinoma (Review).Molecular medicine reports · 2025Review
- Plasma-activated media selectively induces apoptotic death via an orchestrated oxidative stress pathway in high-grade serous ovarian cancer cells.Molecular oncology · 2025Article
- Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.Molecular biology reports · 2025Article
- Evaluation of BRIP-1 (FANCJ) and FANCI Protein Expression in Ovarian Cancer Tissue.Biomedicines · 2024Article
- Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.Journal of ovarian research · 2024Article
- Biomarkers in Ovarian Cancer: Towards Personalized Medicine.Proteomes · 2024Review
- BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.Cancer medicine · 2024Article
- Next-generation sequencing-based analysis of homologous recombination repair gene variant in ovarian cancer.Heliyon · 2024Article
- Hereditary Women's Cancer: Management and Risk-Reducing Surgery.Medicina (Kaunas, Lithuania) · 2023Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Germline BRCA1/2 mutations are identified in 13-15% of ovarian cancers, while an additional 5-7% of ovarian cancers harbor somatic BRCA1/2 mutations. Beyond these mutations, germline or somatic aberrations in genes of the homologous recombination (HR) pathway such as Methods: We performed NGS analysis in 86 patients with ovarian cancer treated in the Oncology Department of Alexandra University Hospital in order to identify the molecular landscape of germline and somatic mutations in ovarian cancer. Results: The genes with the highest number of pathogenic somatic mutations in high grade serous carcinoma (HGSC) patients were TP53 [68%; 34/50] and BRCA1 [22%; 11/50] followed by somatic mutations in RB1 [2%; 1/50], NF1 [2%; 1/50], BRCA2 [2%; 1/50], AKT1 [2%; 1/50], RAD50 [2%; 1/50], PIK3CA [2%; 1/50] genes. Of note, the most common TP53 genetic polymorphism was c.524G>A p.Arg175His in exon 5. Variants of unknown significance (VUS) detected in HGSC included ROS1 [26%; 13/50], RAD50 [6%; 3/50], BRCA2 [6%; 3/50], NOTCH1 [6%; 3/50], TP53 [6%; 3/50], AR [6%; 3/50]. As for germline mutations, BRCA1 [8/30; 27%] and BRCA2 [4/30; 13%] were the most common genes bearing pathogenic alterations in HGSC, while VUS germline mutations commonly affected HRR-related genes, including ATM (c.7816A>G), BRIP (c.2327 C>A), CHEK2 (c.320-5T>A). Conclusion: Overall, genetic testing should be offered in most patients with ovarian cancer to identify mutations in HRR genes and determine the population that would be susceptible to poly ADP ribose polymerase (PARP) inhibitors.
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