Identification of the novel BRCA1 c.2463_2464delTA mutation in two high grade serous ovarian cancer sisters and potential dosage effects implications: a case report

Molecular Biology Reports, Год журнала: 2025, Номер 52(1)

Опубликована: Янв. 7, 2025

Язык: Английский

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Similarities in Mechanisms of Ovarian Cancer Metastasis and Brain Glioblastoma Multiforme Invasion Suggest Common Therapeutic Targets

Cells, Год журнала: 2025, Номер 14(3), С. 171 - 171

Опубликована: Янв. 23, 2025

Epithelial-to-mesenchymal transition (EMT) is a critical process in malignant ovarian cancer metastasis. EMT involves the conversion of epithelial cells to mesenchymal cells, conferring enhanced migratory and invasive capabilities. Glioblastoma multiforme (GBM) most common primary brain tumor exhibits an aggressive phenotype that mimics some steps but does not undergo true metastasis, i.e., invasion other organ systems. This study conducts comparative genomic analysis GBM—two malignancies characterized by poor prognosis limited therapies. Investigating molecular biology GBM demonstrates shared mechanisms progression, such as similar genetic pathways influencing cell plasticity, invasion, resistance therapy. The reveals commonalities differences regulatory networks gene expression profiles associated with these cancers. Key findings include identification core regulators, TWIST1, SNAIL, ZEB1, which are upregulated both GBM, promoting phenotypes Additionally, uncovers EMT-related pathways, PI3K/AKT TGF-β signaling, cancers exhibit distinct dynamics. Understanding intricacies provides valuable insights into their behavior identifies potential therapeutic targets. stress importance targeting EMT/invasion transitions develop effective treatments halt progression improve patient outcomes malignancies.

Язык: Английский

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Long Non-Coding RNAs in Ovarian Cancer: Mechanistic Insights and Clinical Applications

Cancers, Год журнала: 2025, Номер 17(3), С. 472 - 472

Опубликована: Янв. 30, 2025

Background/Objectives: Ovarian cancer is a leading cause of gynecological mortality worldwide, often diagnosed at advanced stages due to vague symptoms and the lack effective early detection methods. Long non-coding RNAs (lncRNAs) have emerged as key regulators in biology, influencing cellular processes such proliferation, apoptosis, chemoresistance. This review explores multifaceted roles lncRNAs ovarian pathogenesis their potential biomarkers therapeutic targets. Methods: A comprehensive literature was conducted analyze structural functional characteristics contributions biology. includes regulatory mechanisms, interactions with signaling pathways, implications for resistance. Advanced bioinformatics omics approaches were also evaluated lncRNA research. Results: The highlights dual role oncogenes tumor suppressors, modulating cell invasion, angiogenesis. Specific lncRNAs, HOTAIR GAS5, demonstrate significant diagnostic Emerging technologies, single-cell sequencing, provide valuable insights into microenvironment heterogeneity expression. Conclusions: LncRNAs hold transformative advancing diagnosis, prognosis, treatment. Targeting or associated pathways offers promising strategies overcome therapy resistance enhance personalized medicine. Continued research integrating will be essential unlock full clinical management.

Язык: Английский

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Integrative Analysis of Gene Expression and Promoter Methylation to Differentiate High-Grade Serous Ovarian Cancer from Benign Tumors

Biomedicines, Год журнала: 2025, Номер 13(2), С. 441 - 441

Опубликована: Фев. 11, 2025

Background: Ovarian cancer (OC) is the third most common and second lethal onco-gynecological disease in world, with high-grade serous ovarian (HGSOC) making up majority of OC cases worldwide. The current serological biomarkers used for diagnosis are lacking sensitivity specificity, thus new greatly needed. Recently, chromatin remodeling complex gene ARID1A, Notch Wnt pathway expression, as well HOX-related promoter methylation have been linked promoting OC. Methods: In this pilot study, 10 expression 4 were examined potential diagnostic prognostic indicators 65 fresh-frozen gynecologic tumor tissues. Results: Out genes analyzed, eight was significantly reduced compared to benign, increased tumors. 14 biomarkers, CTNNB1 showed best single biomarker separation HGSOC from benign (AUC = 0.97), while a combination seven pathway-related expressions (NOTCH1, NOTCH2, NOTCH3, NOTCH4, DLL1, JAG2, HES1) demonstrated 1). Conclusions: multiple or shows great promise development an effective biomarker-based approach

Язык: Английский

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Human epidermal growth factor receptor 3 expression in patients with epithelial ovarian cancer: a potential target for ovarian mucinous and clear cell carcinoma

International Journal of Clinical Oncology, Год журнала: 2025, Номер unknown

Опубликована: Фев. 12, 2025

Язык: Английский

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Molecular Crosstalk by miR-449a and miR-34b in endometrial and ovarian cancer cells in vitro

Gene, Год журнала: 2025, Номер 947, С. 149337 - 149337

Опубликована: Фев. 16, 2025

Язык: Английский

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Metformin combined with CB-839 specifically inhibits KRAS-mutant ovarian cancer

Scientific Reports, Год журнала: 2025, Номер 15(1)

Опубликована: Фев. 19, 2025

KRAS mutations can cause metabolic reprogramming in ovarian cancer, leading to an increased metastatic capacity. This study investigated the changes induced by cancer and mechanism of action metformin combined with a glutaminase 1 inhibitor (CB-839). KRAS-mutant accounted for 14% cancers. The expression glucose metabolism-related (PFKFB3, HK2, GLUT1, PDK2) glutamine enzymes (GLS1 ASCT2) was elevated cells compared that wild-type cells. had higher aerobic oxidative capacity than did Metformin inhibited proliferation, enzymes, those control Furthermore, it enhanced CB-839 proliferation oxidation greater extent observed Additionally, inhibitory effects NOD-SCID mouse model were significantly stronger drug-alone group. lead metabolism cells, which CB-839.

Язык: Английский

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Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene

Molecular Biology Reports, Год журнала: 2025, Номер 52(1)

Опубликована: Фев. 21, 2025

Abstract Background Ovarian Cancer (OC) prevention and early-stage detection represents a challenge due to the lack of effective surveillance. The identification high-risk women is crucial as it provides access prophylactic oophorectomy reduces disease burden. Next-Generation Sequencing approaches enable investigation several genes associated with monogenic hereditary cancer predisposition, including ovarian cancer. For family members patients affected by without germline pathogenic variant, despite increased empirical risk (3 times) incidence, surgery not indicated but may be suggested only efficient strategy. Methods Results We hereby present 2 cases OC in which heterozygous variant ATM gene was identified: first contest Hereditary Breast (HBOC) history and, other one, late onset neoplasms, underline importance defining guidelines management moderate penetrance variants also for prevention. Conclusions Carriers have an neoplasms mostly breast absolute estimated 2–3 times greater than general population. these there well-established evidence benefit reducing bilateral Salpingo-oophorectomy.

Язык: Английский

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ctDNA as an Objective Marker for Postoperative Residual Disease in Primary Advanced High-Grade Serous Ovarian Cancer

Cancers, Год журнала: 2025, Номер 17(5), С. 786 - 786

Опубликована: Фев. 25, 2025

The surgeon's subjective intraoperative evaluation is the standard of care to assess postoperative residual disease (RD) in advanced epithelial ovarian cancer (EOC). We investigated feasibility ctDNA as an objective marker for RD. This prospective study included 27 patients with (FIGO IIIA1-IVB) who underwent primary surgery between July 2021 and 2022. Blood samples were analyzed preoperatively on days 2 (d2) 10 (d10) postoperatively. Low-coverage whole genome sequencing (WGS) was used identify structural variants (SVs) at single-base pair resolution, single nucleotide (SNVs), indels tumor tissue develop personalized, tumor-informed digital polymerase chain reaction (dPCR) fingerprint assays each patient. dPCR successfully developed all by identifying one eight SVs/SNVs per detected 96% (n = 26/27) 81% 22/27) d10. Median levels d10 significantly higher RD (median 367.38 copies (cps)/mL, 2.84% variant allele frequency; VAF) than without 0.92 cps/mL, 0.017% VAF, p < 0.001). In RD, increased from preoperative stage seven out (p 0.016). complete resection, decreased 17/19 A personalized approach demonstrated feasibility, providing extremely high detection rates pre- These results indicate that this could potentially be assessment EOC.

Язык: Английский

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The role of Prolyl 3-Hydroxylase 1 (P3H1) in tumor development and prognosis: a pan-cancer analysis with validation in colonic adenocarcinoma

American Journal of Translational Research, Год журнала: 2025, Номер 17(2), С. 770 - 790

Опубликована: Янв. 1, 2025

Cancer is a multifaceted disease characterized by unregulated cell proliferation, evasion of apoptosis, and metastasis. Recent studies have highlighted the importance extracellular matrix remodeling post-translational modifications in tumorigenesis. Prolyl 3-hydroxylase 1 (P3H1), an enzyme involved collagen hydroxylation, has gained attention for its role cancer progression. This study investigates P3H1 expression, prognostic value, functional relevance across multiple human cancers using combination bioinformatic experimental approaches. Using The Genome Atlas (TCGA) data from TIMER2.0 UALCAN databases, we observed significant upregulation mRNA protein various cancers. Prognostic analysis GEPIA2 KM plotter revealed that high expression correlates with poorer overall survival colon adenocarcinoma (COAD), kidney renal clear carcinoma (KIRC), liver hepatocellular (LIHC). Further, genetic promoter methylation analyses showed low mutation frequencies reduced specific types. Functional pathway enrichment indicated formation, endoplasmic reticulum activity, pathways such as ECM-receptor interaction PI3K-Akt signaling. Validation linked immunosorbent assay COAD patient serum samples demonstrated significantly elevated levels compared to healthy controls, AUC approaching 1.0 receiver operating characteristic (ROC) curve analysis. suggests potential diagnostic biomarker. Additionally, experiments were conducted cells assess P3H1's Knockdown HCT116 resulted reduction colony migratory abilities these cells. These findings emphasize COAD, KIRC, LIHC pathogenesis possible utility clinical diagnosis.

Язык: Английский

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