ArticleCell death discovery2021
Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair.
Article in Cell death discovery, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
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- Transcriptional repression of reaper by Stand still ensures female germline development in Drosophila.PLoS genetics · 2026Article
- ROS-Mediated Apoptosis Induction by a Cationic Pyridoxal Benzoylhydrazone Copper Complex in Oral Cancer Cells.ACS omega · 2026Article
- A TP53-Pathway-Based Prognostic Signature for Radiotherapy and Functional Validation of TP53I3 in Non-Small-Cell Lung Cancer.Cancers · 2026Article
- Acute hepatic injury and metabolic response in hybrid grouper (Epinephelus fuscoguttatus ♀ × Epinephelus lanceolatus ♂) to high-dose Vibrio harveyi infection.Veterinary research communications · 2026Article
- Anticancer compounds from Streptomyces: insights from metagenomics and mechanistic perspective.Folia microbiologica · 2025Review
- Microgravity Impacts the Expression of Aging-Associated Candidate Gene Targets in the p53 Regulatory Network.International journal of molecular sciences · 2025Article
- Harnessing Antioxidants in Cancer Therapy: Opportunities, Challenges, and Future Directions.Antioxidants (Basel, Switzerland) · 2025Review
- Exposure to deltamethrin leads to gill liver damage, oxidative stress, inflammation, and metabolic disorders of Japanese flounder (Frontiers in toxicology · 2025Article
- Mitochondrial Reactive Oxygen Species (mROS) Generation and Cancer:International journal of nanomedicine · 2025Review
- Multi-Omics Analysis and Validation of Cell Senescence-Related Genes Associated with Non-Alcoholic Fatty Liver Disease.Journal of inflammation research · 2025Article
- Functional Investigations of p53 Acetylation Enabled by Heterobifunctional Molecules.ACS chemical biology · 2024Article
- The Extremely-Low-Frequency Electromagnetic Field Affects Apoptosis and Oxidative-Stress-Related Genes and Proteins in the Porcine Endometrium-An In Vitro Study.International journal of molecular sciences · 2024Article
- Changes in the Transcription of Proliferation- and Apoptosis-Related Genes in Embryos in Women of Different Ages under the Influence of Extracellular Vesicles from Donor Follicular Fluid In Vitro.Bulletin of experimental biology and medicine · 2024Article
- Prebiotic proanthocyanidins inhibit bile reflux-induced esophageal adenocarcinoma through reshaping the gut microbiome and esophageal metabolome.JCI insight · 2024Article
- A novel avian intestinal epithelial cell line: its characterization and exploration as an in vitro infection culture model for Eimeria species.Parasites & vectors · 2024Article
- Targeting Class I-II-III PI3Ks in Cancer Therapy: Recent Advances in Tumor Biology and Preclinical Research.Cancers · 2023Review
- Eltanexor Effectively Reduces Viability of Glioblastoma and Glioblastoma Stem-Like Cells at Nano-Molar Concentrations and Sensitizes to Radiotherapy and Temozolomide.Biomedicines · 2022Article
- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.International journal of environmental research and public health · 2022Review
- A polyketide synthase from Verticillium dahliae modulates melanin biosynthesis and hyphal growth to promote virulence.BMC biology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 25% of all cases of ovarian cancer (OVCA) cases are associated with inherited risk. However, accurate risk assessment is limited by the presence of variants of unknown significance (VUS). Previously, we performed whole-exome sequencing on 48 OVCA patients with familial predisposition, yet negative for pathogenic BRCA1/2 mutations. In our cohort, we uncovered thirteen truncating mutations in genes associated with apoptosis (~35% of our patient cohort). The TP53I3 p.S252X premature stop gain was identified in two unrelated patients. TP53I3 is transcriptionally activated by p53 and believed to play a role in DNA damage response and reactive oxygen species-induced apoptosis. In addition, nonsense variants in apoptosis-related genes TP53AIP1, BCLAF1, and PIK3C2G were identified in our cohort; highlighting the potential relevance of genes involved in apoptotic processes to hereditary cancer. In the current study, we employed functional assays and demonstrated that cells expressing TP53I3 p.S252X displayed decreased homologous recombination repair efficiency and increased sensitivity to chemotherapeutic drugs bleomycin, mitomycin c, and etoposide. In addition, in the presence of oxidative stress from hydrogen peroxide or etoposide we observed a reduction in the formation of reactive oxygen species, an important precursor to apoptosis with this variant. Our findings suggest that the combination of in silico and wet laboratory approaches can better evaluate VUSs, establish novel germline predisposition genetic loci, and improve individual cancer risk estimates.
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Registered trials
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