Current Issues in Molecular Biology最新文献

{"title":"Checkpoint-Dependent Sensitivities to Nucleoside Analogues Uncover Specific Patterns of Genomic Instability.","authors":"Zainab Burhanuddin Kagalwala, Mohammed Ayan Chhipa, Zohreh Kianfard, Essam Karam, Sirasie P Magalage, Sarah A Sabatinos","doi":"10.3390/cimb47090756","DOIUrl":"10.3390/cimb47090756","url":null,"abstract":"<p><p>Nucleoside analogues are used as drugs and as labels in laboratory-based research. However, the effect of different nucleoside analogue mechanism(s) on cell sensitivity or mutagenesis is unclear. This is particularly important in cancer treatments where checkpoint proteins and DNA damage factors are often mutated. We tested six nucleoside analogues in fission yeast, <i>Schizosaccharomyces pombe</i>. We found that the mutations in the DNA replication checkpoint cause unique sensitivity profiles towards chemotherapeutic nucleoside analogues (gemcitabine, 5-fluorouracil, cytarabine) and the non-clinical analogue bromodeoxyuridine. Antiretroviral compounds, zidovudine and lamivudine, did not alter cell growth. We compared half-maximal inhibitory concentration (IC50) doses between checkpoint deficient yeast strains, examining culture growth and DNA mis-segregation. Intriguingly, gemcitabine and bromodeoxyuridine doses above the IC50 promoted better growth. Above each compound's IC50 dose we saw that cells were insensitive to nucleoside analogue re-exposure, particularly in DNA replication checkpoint mutants (<i>cds1∆</i>, <i>rad3∆</i>). Thus, pairing nucleoside analogue use with personal genomics may inform drug choice, dose, and schedule. Finally, these data indicate that resistance may be predictable, informing clinical strategy.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting the cGAS-STING Pathway to Modulate Immune Inflammation in Diabetes and Cardiovascular Complications: Mechanisms and Therapeutic Insights.","authors":"Guida Cai, Xi Zhang, Jiexi Jiao, Weijie Du, Meiling Yan","doi":"10.3390/cimb47090750","DOIUrl":"10.3390/cimb47090750","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM), characterized by insulin resistance and chronic hyperglycemia, markedly increases the incidence and mortality of cardiovascular disease (CVD). Emerging preclinical evidence identifies the cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) pathway as a critical mediator of diabetic cardiovascular inflammation. Metabolic stressors in T2DM-hyperglycemia, lipotoxicity, and mitochondrial dysfunction-induce leakage of mitochondrial and microbial double-stranded DNA into the cytosol, where it engages cGAS and activates STING. Subsequent TBK1/IRF3 and NF-κB signaling drives low-grade inflammation across cardiomyocytes, endothelial cells, macrophages, and fibroblasts. Genetic deletion of cGAS or STING in high-fat-diet-fed diabetic mice reduces NLRP3 inflammasome-mediated pyroptosis, limits atherosclerotic lesion formation, and preserves cardiac contractile performance. Pharmacological inhibitors, including RU.521 (cGAS antagonist), C-176/H-151 (STING palmitoylation blockers), and the TBK1 inhibitor amlexanox, effectively lower pro-inflammatory cytokines (IL-1β, IL-6, TNF-α) and improve left ventricular ejection fraction in diabetic cardiomyopathy and ischemia-reperfusion injury models. Novel PROTAC degraders targeting cGAS/STING and natural products such as Astragaloside IV and Tanshinone IIA further support the pathway's druggability. Collectively, these findings position the cGAS-STING axis as a central molecular nexus linking metabolic derangement to cardiovascular pathology in T2DM and underscore its inhibition or targeted degradation as a promising dual cardiometabolic therapeutic strategy.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic and Quantitative Characterization of Mast Cells in Cutaneous Melanoma: Correlation with Staging Metrics.","authors":"Grigory Demyashkin, Dmitrii Atiakshin, Kirill Silakov, Vladimir Shchekin, Maxim Bobrov, Olga Abramova, Matvey Vadyukhin, Tatyana Borovaya, Ekaterina Blinova, Petr Shegay, Andrei Kaprin","doi":"10.3390/cimb47090752","DOIUrl":"10.3390/cimb47090752","url":null,"abstract":"<p><p><b>Background</b>: Mast cells, key effectors of the innate immune system, are known to participate in various stages of tumor progression, including inflammation, angiogenesis, and extracellular matrix remodeling. Their role in melanoma, particularly in relation to Breslow thickness, pT stage, and AJCC staging, remains unclear. This study aims to quantitatively and phenotypically assess mast cell infiltration in cutaneous melanoma at different stages of progression, focusing on Tryptase- and Chymase-positive subtypes. <b>Methods</b>: This retrospective multicenter study included 124 patients with cutaneous melanoma (AJCC 8th edition, stages IA-IIIC). Histological sections were stained with hematoxylin and eosin, and mast cells were visualized using toluidine blue and immunohistochemistry with anti-Tryptase and anti-Chymase antibodies. Mast cells were counted manually in intratumoral and peritumoral regions by two independent observers. Quantitative data were analyzed using non-parametric tests and presented as median [Q1-Q3]. <b>Results</b>: Histological examination of 124 melanoma samples confirmed typical features of cutaneous melanoma, with nodular melanoma being the most common subtype (68 cases, 54.8%) and the lower extremities identified as the predominant tumor location (47 cases, 37.9%). Toluidine blue staining verified the presence of mast cells in both intratumoral and peritumoral compartments, with the highest density observed in early-stage melanomas. Immunohistochemical analysis identified both Tryptase+ and Chymase+ mast cells. The intratumoral number of Tryptase+ cells declined from 17 [14-19] per HPF at AJCC stage IA to 6 [5-7] per HPF at stage IIIC, while Chymase+ mast cells decreased from 14 [11-16] per HPF to 2 [1-3] per HPF over the same stages. Peritumoral counts also showed a downward trend, although less pronounced. Overall, the most significant reduction was observed in Chymase+ mast cells, suggesting their potential role as markers of melanoma progression. <b>Conclusions</b>: This study highlights the dynamic changes in mast cell populations in cutaneous melanoma, with a pronounced decrease in Chymase⁺ mast cells as the tumor progresses. Further research is needed to explore the mechanistic role of mast cells and their phenotypic shifts in melanoma progression.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exogenous Sugar Alleviates Salt Stress in Cucumber Seedlings by Regulating the Antioxidant System and Hormone Signaling.","authors":"Guangchao Yu, Zhipeng Wang, Ming Wei, Lian Jia, Yue Qu, Yingyi Jiang","doi":"10.3390/cimb47090754","DOIUrl":"10.3390/cimb47090754","url":null,"abstract":"<p><p>This study explored the regulatory effects of exogenous glucose (Glu) and sucrose (Suc) on the growth performance and physiological mechanisms of cucumber seedlings under salt stress. Using two cucumber cultivars as experimental materials, pot experiments demonstrated that salt stress significantly suppressed seedling growth, decreased chlorophyll content, and triggered oxidative damage. However, pretreatment with exogenous sugars effectively mitigated these adverse effects by maintaining photosynthetic efficiency, enhancing the activities of key antioxidant enzymes-superoxide dismutase (SOD), peroxidase (POD), catalase (CAT), and ascorbate peroxidase (APX)-and reducing the accumulation of reactive oxygen species (ROS) and membrane lipid peroxidation. Transcriptomic analysis revealed that the two sugars differentially modulated antioxidant pathways and transcription factor networks to synergistically enhance salt tolerance. Specifically, sucrose preferentially activated POD, whereas glucose specifically induced APX and RbohD. Furthermore, glucose upregulated NAC and ERF family genes, while sucrose suppressed certain WRKY members. Both sugars contributed to the restoration of auxin and abscisic acid (ABA) signaling pathways. This study provides a theoretical foundation for the role of sugar signaling in enhancing crop resistance to abiotic stress.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Crosstalk Between Metabolic Reprogramming and Epigenetic Modifications in Colorectal Cancer: Mechanisms and Clinical Applications.","authors":"Yu-Hui Sun, Jing-Xian Zhang, Han-Shu Jin, Jin Huang","doi":"10.3390/cimb47090751","DOIUrl":"10.3390/cimb47090751","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is one of the most common malignant tumors of the digestive tract in developing countries. It exhibits significant metabolic reprogramming and epigenetic abnormalities during its development. These two changes interact at the molecular level and jointly promote the progression of tumor cells. Cancer cells reprogram metabolites such as glucose, glutamine, and lipids to meet their energy and biological substrate requirements for survival. Concurrently, abnormalities in epigenetic modifications drive imbalances in gene expression and sustain the malignant phenotype. More importantly, metabolites can serve as substrates or cofactors for epigenetic enzymes, and changes in metabolic status can induce epigenetic remodeling. Correspondingly, epigenetic mechanisms regulate the transcription and function of metabolism-related genes, leading to adaptive alterations in tumor metabolic pathways. This review systematically summarizes the characteristics of major metabolic pathway reprogramming and the mechanisms underlying key epigenetic abnormalities in CRC. Furthermore, it elaborates on the mechanisms of their mutual influence in signaling pathways, key factors, immunometabolism, and the tumor microenvironment. It also discusses recent advances in novel diagnostic technologies (such as multi-omics integrated diagnostics) and therapeutic strategies (including targeting metabolism, epigenetic therapy, and combination therapies). In the future, research focusing on the interaction between metabolic reprogramming and epigenetics will provide new insights and targets for the early diagnosis and precision treatment of CRC.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanisms of Silique Dehiscence in Rapeseed: A Review of Research Progress.","authors":"Menglin Zhou, Wuming Deng, Bingbing Dai, Qingqing Yu, Wei Zhou, Xiaofei Zan, Xi Song","doi":"10.3390/cimb47090755","DOIUrl":"10.3390/cimb47090755","url":null,"abstract":"<p><p>Silique dehiscence is a critical biological phenomenon in rapeseed production that significantly influences seed maturity, harvesting efficiency, and ultimately yield. As one of the world's most important oilseed crops, studying the mechanisms underlying silique dehiscence in rapeseed (<i>Brassica napus</i> L.) not only aids in understanding fundamental principles of plant development but also provides a scientific basis for optimizing agricultural production practices. Silique dehiscence occurs naturally during the maturation process of rapeseed, with the timing and extent of this phenomenon directly affecting seed harvesting efficiency. This paper reviews the research progress regarding the mechanization of canola production, which enhances harvesting efficiency by enabling timely harvest coordination to minimize pre-harvest shattering losses and reduce post-harvest seed damage. Additionally, it addresses the factors influencing pod shattering, the process of pod shattering, the genes associated with this phenomenon, and the molecular mechanisms underlying pod shattering. These findings establish a foundation for a comprehensive understanding of pod shattering in canola.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12469059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Valproic Acid as a Histone Deacetylase Inhibitor Induces <i>ABCB1</i> Overexpression and De Novo <i>ABCB5</i> Expression in HeLa Cells.","authors":"Gabriela Rebeca Luna-Palencia, José Correa-Basurto, Ismael Vásquez-Moctezuma","doi":"10.3390/cimb47090749","DOIUrl":"10.3390/cimb47090749","url":null,"abstract":"<p><p>Histone deacetylase inhibitors (HDACis) induce the expression of multidrug resistance (MDR) pumps and can even display the MDR phenotype in cell lines. This is the first report to include the profiles of ATP-binding cassette (ABC) transporters in intrinsically expressed HeLa cells as well as those acquired due to a 5 mM valproic acid (VPA) treatment. Expression of ABC transporters related to the MDR phenotype was analyzed by RT-PCR in untreated HeLa cells and HeLa cells treated with 5 mM VPA. The ABCB5 protein was identified in HeLa cells by immunocytochemistry. HeLa cell treatment with 5 mM VPA increased <i>ABCB1</i> expression and triggered the de novo expression of <i>ABCB5</i> in mRNA and protein. Despite the expression of <i>ABCB5</i> and the overexpression of <i>ABCB1</i>, VPA reduced the growth rate by 20%, delayed doubling time by 25%, and decreased the number of living cells per well to 50% after 72 h. Pretreatment with VPA for 24 h followed by cotreatment with doxorubicin (DOX) sensitized HeLa cells to DOX. However, for the de novo expression of <i>ABCB5</i>, HeLa cells did not acquire the MDR phenotype from the 5 mM VPA treatment. The ABCB5 isoform induced by VPA treatment probably lacks MDR activity.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum TNF -α, IL-10 and IL-2 Trajectories and Outcomes in NSCLC and Melanoma Under Anti-PD-1 Therapy: Longitudinal Real-World Evidence from a Single Center.","authors":"Alina Miruna Grecea-Balaj, Olga Soritau, Ioana Brie, Maria Perde-Schrepler, Piroska Virag, Eva Fischer-Fodor, Nicolae Todor, Mihai Cenariu, Ioana Nedelea, Tudor Eliade Ciuleanu","doi":"10.3390/cimb47090746","DOIUrl":"10.3390/cimb47090746","url":null,"abstract":"<p><p>This prospective single-center study examined associations between serum cytokines-TNF-α, IL-2, and IL-10-and outcomes in stage IV non-small cell lung cancer (NSCLC, <i>n</i> = 43) and melanoma (<i>n</i> = 15) patients treated with Nivolumab at the Oncology Institute in Cluj-Napoca, Romania. Cytokines were measured at baseline (NSCLC: <i>n</i> = 43; melanoma: <i>n</i> = 15), 3 months (NSCLC: <i>n</i> = 20; melanoma: <i>n</i> = 7), and 6 months (NSCLC: <i>n</i> = 10; melanoma: <i>n</i> = 5). Melanoma patients showed sustained IL-2 and TNF-α increases, while NSCLC patients displayed heterogeneous cytokine dynamics. In NSCLC, elevated IL-10 at 3 months correlated with shorter survival (ρ = -0.51, 95% CI -0.78 to -0.12, <i>p</i> = 0.022) and poorer response (ρ = -0.65, 95% CI -0.86 to -0.23, <i>p</i> = 0.002). TNF-α showed a borderline association with response (ρ = -0.44, 95% CI -0.74 to 0.01, <i>p</i> = 0.050). In melanoma, 3-month TNF-α was inversely associated with survival (ρ = -0.82, 95% CI -0.97 to -0.15, <i>p</i> = 0.023) and response (ρ = -0.90, 95% CI -0.99 to -0.39, <i>p</i> = 0.006). Strong inter-cytokine correlations were observed (NSCLC: TNF-α vs. IL-10, ρ = 0.60, 95% CI 0.19-0.82; melanoma: ρ = 0.93, 95% CI 0.44-0.99). Baseline cytokines had limited utility, particularly in melanoma due to the small sample size. The most informative finding was the association of elevated 3-month IL-10 with adverse outcomes in NSCLC. These results support the value of dynamic cytokine monitoring in immunotherapy and warrant validation in larger cohorts.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integration of eQTL and GEO Datasets to Identify Genes Associated with Breast Ductal Carcinoma In Situ.","authors":"Cai-Qin Mo, Rui-Wang Xie, Wei-Wei Li, Min-Jie Zhong, Yu-Yang Li, Jun-Yu Lin, Juan-Si Zhang, Sheng-Kai Zheng, Wei Lin, Ling-Jun Kong, Sun-Wang Xu, Xiang-Jin Chen","doi":"10.3390/cimb47090747","DOIUrl":"10.3390/cimb47090747","url":null,"abstract":"<p><strong>Background: </strong>Breast ductal carcinoma in situ (DCIS), a common precursor of breast cancer, has poorly understood susceptible driver genes. This study aimed to identify genes influencing DCIS progression by integrating Mendelian randomization (MR) and Gene Expression Omnibus (GEO) datasets.</p><p><strong>Methods: </strong>The GEO database was searched for DCIS-related datasets to extract differentially expressed genes (DEGs). MR was employed to find exposure single-nucleotide polymorphisms (SNPs) of expression quantitative trait locus (eQTL) gene expression from Genome-Wide Association Study database (GWAS) (IEU openGWAS project). DCIS was designated as the outcome variable. The intersection of genes was used for GO, KEGG and CIBERSORT analyses. The functional validation of selected DEGs was performed using Transwell invasion assays.</p><p><strong>Results: </strong>Four datasets (GSE7782, GSE16873, GSE21422, and GSE59246) and 19,943 eQTL exposure data were obtained from GEO and the IEU openGWAS project, respectively. By intersecting DEGs, 13 genes (LGALS8, PTPN12, YTHDC2, RNGTT, CYB5R2, KLHDC4, APOBEC3G, GPX3, RASA3, TSPAN4, MAPKAPK3, ZFP37, and RAB3IL1) were incorporated into subsequent KEGG and GO analyses. Functional assays confirmed that silencing PTPN12, YTHDC2 and MAPKAPK3, or overexpressing GPX3, RASA3 and TSPAN4, significantly suppressed DCIS cell invasion. These DEGs were linked to immune functions, such as antigen processing and presentation and the tumor microenvironment (TME), and they showed associations with dendritic cell activation differences.</p><p><strong>Conclusions: </strong>Thirteen genes were associated with DCIS progression, and six genes were validated in the cell experiments. KEGG and GO analyses highlight TME's role in early breast cancer, enhancing understanding of DCIS occurrence and aiding identification of high-risk tumors.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>TP53</i> IVS3 16 bp Variant and Breast Cancer Risk in Western Mexican Women: A Case-Control Study.","authors":"Mariana Araiza-Guzmán, Bricia M Gutiérrez-Zepeda, Ana M Saldaña-Cruz, Ingrid B Montoya-Delgado, Diana Rubio-Delgado, Pablo Benítez-Villa, Diana M Hernández-Corona, Adrian Daneri-Navarro, Alicia Del Toro-Arreola, Jazmin Márquez-Pedroza, Antonio Quintero-Ramos, Betsabé Contreras-Haro","doi":"10.3390/cimb47090744","DOIUrl":"10.3390/cimb47090744","url":null,"abstract":"<p><strong>Background: </strong>Mutations in the <i>TP53</i> gene can alter its tumor suppressor functions, thereby promoting oncogenic activity. The <i>TP53</i> IVS3 16 bp genetic variant overlaps with nucleotide sequences that can alter regulatory structures, potentially affecting its function. The aim of the present study was to evaluate the association between <i>TP53</i> IVS3 16 bp genetic variant and the risk of breast cancer (BC) in women from western Mexico.</p><p><strong>Methods: </strong>The study included 220 women diagnosed with BC and 198 cancer-free controls. Clinical and demographic data were collected through structured questionnaires and verified with medical records. Genotyping of the <i>TP53</i> IVS3 16 bp genetic variant was performed using polymerase chain reaction (PCR) and visualized on 6% polyacrylamide gels.</p><p><strong>Results: </strong>Compared to controls, women with BC more frequently reported a family history of the disease and menopausal status (<i>p</i> < 0.05). Genotypic analysis revealed that carriers of the D/I genotype and the combined D/I + I/I genotypes were associated with a reduced risk of BC in codominant (OR = 0.53; 95% CI 0.32-0.88) and dominant (OR = 0.57; 95% CI 0.35-0.93) models.</p><p><strong>Conclusions: </strong>The D/I and D/I + I/I genotypes in codominant and dominant models showed a lower risk against BC. More studies are needed to confirm these findings.</p>","PeriodicalId":10839,"journal":{"name":"Current Issues in Molecular Biology","volume":"47 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12469232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}