Cancer Genetics最新文献

{"title":"Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients","authors":"Abimbola F. Onyia ,&nbsp;AbdulRazzaq Lawal ,&nbsp;Chidiebere Ogo ,&nbsp;Ebenezer S. Nkom ,&nbsp;Nwamaka N. Lasebikan ,&nbsp;Olaitan T. Ayegbusi ,&nbsp;Opeyemi C. De Campos ,&nbsp;Oluwakemi A. Rotimi ,&nbsp;Jelili O. Oyelade ,&nbsp;Usman M. Aliyu ,&nbsp;Emeka E.J. Iweala ,&nbsp;Solomon O. Rotimi","doi":"10.1016/j.cancergen.2025.11.012","DOIUrl":"10.1016/j.cancergen.2025.11.012","url":null,"abstract":"<div><h3>Purpose</h3><div>Disparities in the care and management of breast cancer (BC) contribute to poor outcomes and limited access to precision oncology in Nigerian patients. Existing studies on Nigerian patients have largely been conducted abroad, restricting their direct application to local healthcare. This study addresses this gap through a locally led investigation of germline and somatic mutations using tumor-normal paired sequencing.</div></div><div><h3>Methods</h3><div>Forty-two female BC patients were recruited from teaching hospitals between January and April 2024. DNA was extracted from blood and matched fresh-frozen tumor tissue. Targeted sequencing of 50 cancer-related genes was performed with the Illumina AmpliSeq Cancer Hotspot Panel and MiSeq platform. Germline and somatic variants were identified through matched normal filtering, with oncogenic significance assessed using the ESCAT/ESMO Tier classification. Visualization was performed in R (v4.4.2) using the maftools package.</div></div><div><h3>Results</h3><div>A germline <em>TP53</em> pathogenic variant, <em>TP53</em> c.694dupA (p.Ile232Asnfs) was identified in a 35-year-old triple-negative BC patient with recurrent metastatic disease, representing its first report as a germline alteration. Additionally, eighteen oncogenic/likely oncogenic somatic variants were detected, nine of which were actionable (Tier I-III). <em>EGFR</em> amplification was found in 7 % of patients, alongside copy number losses in genes including <em>CDKN2A</em> and <em>KIT</em>.</div></div><div><h3>Conclusion</h3><div>This study demonstrates the feasibility of localized tumor-normal sequencing in Nigerian BC patients, revealing actionable variants with clinical relevance. These findings highlight the need to integrate genomic profiling into routine cancer care and establish molecular tumor boards to advance precision oncology in Nigeria.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"300 ","pages":"Pages 10-24"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145670488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple endocrine neoplasia type 1 syndrome due to novel Alu insertion","authors":"Aislinn Cragg ,&nbsp;Hannah Boon ,&nbsp;Treena Cranston ,&nbsp;Tristan Richardson ,&nbsp;Schaida Schirwani","doi":"10.1016/j.cancergen.2025.11.014","DOIUrl":"10.1016/j.cancergen.2025.11.014","url":null,"abstract":"<div><div>Multiple Endocrine Neoplasia type 1 syndrome is caused by pathogenic variants in the MEN1 gene, and is characterised by tumours in multiple endocrine glands. This case study looks at a family with four affected members over two generations who have been diagnosed with the syndrome after next generation sequencing identified a novel Alu insertion. Previous genetic testing in the index patient had not identified an underlying cause.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"300 ","pages":"Pages 61-66"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145797584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative analysis of a founder BRCA2 double mutation versus single mutation carriers reveals no additional clinical risk","authors":"Gemma Caliendo ,&nbsp;Chiara Della Pepa ,&nbsp;Marialaura Zitiello ,&nbsp;Alessia Mignano ,&nbsp;Luana Passariello ,&nbsp;Luisa Albanese ,&nbsp;Maria Teresa Vietri","doi":"10.1016/j.cancergen.2025.11.013","DOIUrl":"10.1016/j.cancergen.2025.11.013","url":null,"abstract":"<div><h3>Background</h3><div>Double mutations (DMs) in cis within the same BRCA gene are extremely rare, and their clinical significance remains uncertain, as it is unclear whether they confer an additive risk compared with single pathogenic variants (PVs).</div></div><div><h3>Materials and methods</h3><div>We retrospectively analyzed a cohort of 1722 patients referred for suspected Hereditary Breast and Ovarian Cancer (HBOC). Among them, 9 unrelated probands were found to carry the same BRCA2 DM: c.631G&gt;A (p.Val211Ile) in exon 7 and c.7008-2A&gt;T (IVS13-2A&gt;T) at the acceptor splice site of intron 13. Both variants were confirmed to co-segregate in cis. A control group of 19 probands with a single BRCA2 PV located between exons 7 and 14 was selected for comparison.</div></div><div><h3>Results</h3><div>All DM families originated from the same geographic area in Southern Italy, suggesting a founder effect. The mean age at breast cancer onset was 50.7 years in the DM group and 51.4 years in the control group. Tumor spectrum and distribution among probands and relatives were comparable between groups, and BRCA2-related breast cancers were predominantly hormone receptor–positive in both cohorts. No statistically significant differences were observed regarding cancer types, stage, or receptor profile.</div></div><div><h3>Conclusions</h3><div>These findings suggest that the BRCA2 double mutation c.631G&gt;A/c.7008-2A&gt;T may have a founder effect, and the coexistence of the two variants does not appear to confer an additive cancer risk or a more severe clinical phenotype compared with carriers of a single BRCA2 pathogenic mutation.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"300 ","pages":"Pages 28-35"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145688616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FBXL16 regulates TAMs recruitment by mediating cytokine release in gliomas","authors":"Zhansheng Fang ,&nbsp;Jingying Li ,&nbsp;Yu Xiong ,&nbsp;Pengxiang Luo ,&nbsp;Qi Lu ,&nbsp;Miaojing Wu ,&nbsp;Kai Huang ,&nbsp;Longbo Zhang ,&nbsp;Xingen Zhu ,&nbsp;Lei Wu","doi":"10.1016/j.cancergen.2025.11.006","DOIUrl":"10.1016/j.cancergen.2025.11.006","url":null,"abstract":"<div><div>Gliomas are characterized by an immunosuppressive tumor microenvironment (TME), which significantly limits the efficacy of current immunotherapies. To address this challenge, we explored the role of FBXL16, a gene with distinct expression patterns in nervous system tumors identified through analysis of public databases. Our study utilized clinical sample analysis, survival correlation, in vitro functional assays, and in vivo mouse models to investigate FBXL16′s impact on glioma progression. Gene set enrichment analysis (GSEA), immunosuppression profiling, and co-culture assays with flow cytometry validation were employed to elucidate its immunological role, particularly in regulating M2-type tumor-associated macrophage (M2-TAM) recruitment. Our investigation revealed a substantial decrease in FBXL16 expression within glioma tissues, which exhibited and positively correlation with patient survival rates. Overexpression of FBXL16 in glioma cells suppressed proliferation, migration, and invasion, and extended survival in glioma-bearing mice. Mechanistically, FBXL16 regulated the secretion of key immunoregulatory cytokines such as TGF-β, IL-6, IFN-α, and VEGF, thereby disrupting macrophage recruitment to the TME. These findings suggest that FBXL16 attenuates glioma progression by inhibiting cytokine release and limiting TAM recruitment, thus interrupting the immunosuppressive feedback loop within the TME. Our study highlights FBXL16 as a promising immunomodulatory target for glioma therapy, offering new insights into overcoming immunosuppression in gliomas.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 285-294"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145566049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A pilot study of evaluation of a deep-learning-based homologous recombination deficiency assay in korean patients with ovarian high-grade serous carcinoma: Diagnostic performance and clinical implications","authors":"Gui Young Kwon ,&nbsp;Sanghoo Lee ,&nbsp;Jeonghoon Hong ,&nbsp;Yiseul Kim ,&nbsp;Hee-Ji Choi ,&nbsp;Jihye Yun ,&nbsp;Jinhee Park ,&nbsp;Jiyoon Jung ,&nbsp;Joonsung Yoon ,&nbsp;SaeYun Baik ,&nbsp;Mi-Kyeong Lee ,&nbsp;Kyoung-Ryul Lee ,&nbsp;Jeong Won Kim","doi":"10.1016/j.cancergen.2025.09.003","DOIUrl":"10.1016/j.cancergen.2025.09.003","url":null,"abstract":"<div><h3>Background</h3><div>Homologous recombination deficiency (HRD)-related genetic mutations in ovarian high-grade serous carcinoma (HGSC) are known to be ethnic specific. Here, we assessed the diagnostic performance of HRD and its clinical implication in Korean HGSC patients using the SOPHiA DDM HRD Solution.</div></div><div><h3>Methods</h3><div>Sixty-three ovarian cancer (OC) patients were enrolled, including 53 with HGSC and 10 with other subtypes. HRD status was determined by 28 homologous recombination repair (HRR) genetic sequencing and genomic scarring (GS) measurement. The GS was measured through low-pass whole-genome sequencing and quantified using the genomic integrity index (GII).</div></div><div><h3>Results</h3><div>HRD status was analyzed in 53 out of 63 OC patients (84.1 %). Among the 53 with HGSC, HRD results were available for 83.0 % (<em>n</em> = 44). Of these HGSC patients, 72.7 % (<em>n</em> = 32) were HRD-positive, including 15 with <em>BRCA1/2</em> mutations (34.1 %) and 27 with GI-positive (61.4 %). In HGSC, HRD-positive status was associated with solid, pseudoendometrioid or transitional (SET) pattern (<em>P</em> = 0.015). Patients with positive HRD and high GII (&gt;4.2) exhibited improved disease-free survival (DFS) and overall survival (OS) compared to those with negative HRD (<em>P</em> = 0.003 and 0.024, respectively) and low GII (<em>P</em> &lt; 0.001 and <em>P</em> = 0.006, respectively). Multivariate analysis revealed a high GII as a better prognostic indicator for DFS and OS (<em>P</em> = 0.003 and 0.032, respectively).</div></div><div><h3>Conclusion</h3><div>The HRD assay offers high diagnostic performance of HRD in Korean OC patients. Furthermore, the prognostic value of high GII and HRD, as well as an association with SET pattern and HRD was evident in HGSC.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 69-77"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145018569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel fumarate hydratase frameshift mutation in lung adenocarcinoma: A case report","authors":"Haruko Nakagawa ,&nbsp;Satoru Aoyama ,&nbsp;Junko Yokobori ,&nbsp;Haruhiko Furusawa ,&nbsp;Takahiro Mitsumura ,&nbsp;Akira Takemoto ,&nbsp;Ken Yamagiwa ,&nbsp;Masaaki Kawanishi ,&nbsp;Yasunari Miyazaki ,&nbsp;Sadakatsu Ikeda","doi":"10.1016/j.cancergen.2025.08.006","DOIUrl":"10.1016/j.cancergen.2025.08.006","url":null,"abstract":"<div><div>Fumarate hydratase (<em>FH</em>) is a tumor suppressor gene implicated in the tumorigenesis of several cancers, including renal cell carcinoma. However, <em>FH</em> mutations are uncommon in lung adenocarcinoma, and frameshift deletions are exceedingly rare. Here, we report a novel <em>FH</em> frameshift mutation (G97fs*3) in a 67-year-old woman with lung adenocarcinoma. The mutation was detected through comprehensive genomic profiling. It occurs within the catalytic domain of FH and has not been previously reported in this cancer type. A literature review revealed that <em>FH</em> mutations are oncogenic in hereditary leiomyomatosis and renal cell cancer, suggesting that the frameshift mutation could also serve as a driver mutation in this case. This report highlights the utility of comprehensive genomic profiling in identifying clinically relevant mutations and demonstrates the potential of leveraging such insights for precision oncology. <em>FH</em> alterations, such as the one described, could represent potential therapeutic targets from molecular perspectives.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 16-19"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144878618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential impact of IDH1/2 mutations on outcome in adult acute myeloid leukemia patients","authors":"Wanfang Yang ,&nbsp;Jing Xu ,&nbsp;Shuhua Cao ,&nbsp;Ning Wang ,&nbsp;Zhuanghui Hao ,&nbsp;Qing Wang ,&nbsp;Yanhong Tan ,&nbsp;Xiuhua Chen ,&nbsp;Zhifang Xu ,&nbsp;Yaofang Zhang ,&nbsp;Jianmei Chang ,&nbsp;Xiaojuan Wang ,&nbsp;Fanggang Ren ,&nbsp;Hongwei Wang","doi":"10.1016/j.cancergen.2025.09.008","DOIUrl":"10.1016/j.cancergen.2025.09.008","url":null,"abstract":"<div><div>Mutations in Isocitrate Dehydrogenase-1 (IDH1) and IDH2 lead to abnormal histone hypermethylation and DNA modifications, disrupting cell differentiation, yet the clinical and prognostic significance of these mutations in primary acute myeloid leukemia (AML) remains debated. This study retrospectively analyzed 181 newly diagnosed AML patients, categorizing them into IDH1mut, IDH2mut, and IDHwt groups to compare clinical features, mutational profiles, and outcomes. IDH1 and IDH2 mutations were detected in 7.7 % (14/181) and 11.6 % (21/181) of cases, respectively. Patients with IDH mutations were older, had higher platelet counts, elevated WT1 mRNA expression, and lower white blood cell counts compared to IDHwt patients. Notably, IDH1mut patients showed no significant OS difference (<em>P</em> = .153), whereas IDH2mut patients exhibited significantly shorter overall survival (OS) than IDHwt patients (HR = 1.844, 95 % CI: 1.008–3.792, <em>P</em> = .047). Additionally, IDH1mut patients with DNMT3A co-mutations also demonstrated shorter DFS and OS (<em>P</em> = .013 and <em>P</em> = .003, respectively), while IDH2mut patients with co-mutations in NPM1, ASXL1, or SRSF2 had reduced disease-free survival (DFS) and OS (<em>P</em> &lt; .05).</div><div>These findings suggest that early detection of IDH1/2 mutations and associated clinical features at AML diagnosis could provide a rationale for targeted therapy with IDH inhibitors, potentially improving patient outcomes.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 133-140"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring replication stress and cellular senescence as key targets in novel cancer therapies","authors":"Suman Kumar Ray,&nbsp;Sukhes Mukherjee","doi":"10.1016/j.cancergen.2025.09.002","DOIUrl":"10.1016/j.cancergen.2025.09.002","url":null,"abstract":"<div><div>The hallmark features most commonly found in human cancers include sustained cell proliferation, evasion of apoptosis, and genetic instability. Replication stress, which contributes to genome instability and is characteristic of both pre-cancerous and cancerous cells, arises from conditions that cause significant DNA damage. DNA replication is a highly controlled process in each cell cycle, ensuring accurate duplication of DNA for distribution to daughter cells. Cellular senescence prevents damaged or aging cells from dividing by halting their progression through the cell cycle. Senescent cells undergo a variety of changes, such as metabolic shifts, chromatin alterations, and autophagy regulation. Senescence can be triggered by telomere shortening, leading to a limited number of cell divisions (replicative senescence), or by oncogene overexpression, which functions as a mechanism to protect against cancer. A number of activated oncogenes have been shown to induce replication stress, a crucial early step in the development of cancer. Investigating the mechanisms behind the replication stress response may open up new avenues for cancer therapies, including small-molecule inhibitors targeting pathways such as Chk1, TLK, WEE1, ATR, MELK, PARP, NAE, and others. This review examines the relationship between persistent replication stress and cellular senescence in carcinogenesis, aiming to provide insights into the early stages of oncogenesis and to inform the development of new cancer diagnostic and therapeutic strategies.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 78-87"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"miR-100 polymorphisms as novel genetic risk markers for pediatric acute lymphoblastic leukemia in North African tunisians","authors":"Amani Dhiflaoui ,&nbsp;Amira Daldoul ,&nbsp;Saouassen Chouchene ,&nbsp;Wafa Chenbeh ,&nbsp;Sarra Boukhris ,&nbsp;Wassim Y. Almawi ,&nbsp;Hassen Ben Abdennebi","doi":"10.1016/j.cancergen.2025.10.099","DOIUrl":"10.1016/j.cancergen.2025.10.099","url":null,"abstract":"<div><h3>Background</h3><div>While miR-100 is a tumor suppressor in several malignancies, its role in pediatric acute lymphoblastic leukemia (ALL) remains poorly understood. This study investigated the relationship between two miR-100 single-nucleotide polymorphisms (SNPs), rs543412 and rs183430, and ALL susceptibility in North African Tunisian children.</div></div><div><h3>Methods</h3><div>We conducted a case-control study involving 128 pediatric ALL patients and 157 healthy controls. Genotyping of rs543412 and rs183430 was performed using TaqMan SNP assays. Logistic regression analysis was used to assess associations between genotypes, haplotypes, and ALL risk, with multiple corrections applied.</div></div><div><h3>Results</h3><div>The rs543412 T allele was more frequent in ALL cases than controls (41 % vs. 32 %, <em>p</em> = 0.046), and increased ALL risk was seen with C/T (OR=2.20, 95 %CI=1.03–4.70) and T/T (OR=2.48, 95 %CI=1.16- 5.28) genotypes. However, this association did not survive multiple testing correction. The rs183430 G allele showed stronger association with ALL (57 % vs. 41 %, <em>p</em> &lt; 0.001), and with G/G homozygosity conferring a markedly elevated risk (OR=2.94, 95 %CI:1.56–5.54). Two-locus haplotype analysis revealed that C∼G (aOR=1.77, 95 %CI=1.09–2.88) and T∼G (aOR=2.59, 95 %CI=1.51–4.44) haplotypes significantly increased ALL risk. However, no significant associations were observed between these polymorphisms and the clinicopathological features.</div></div><div><h3>Conclusions</h3><div>This exploratory study identifies rs183430 as significantly associated with pediatric ALL susceptibility in North African children. These preliminary results suggest that miR-100 SNPs could serve as potential ALL biomarkers, although validation in independent cohorts is needed before clinical use.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 208-211"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LncRNA SNHG29 Suppresses Epithelial Ovarian Cancer Cell Invasion and Migration via miR-20b-3p/GNAI3 Axis Regulation","authors":"Chencheng Dai ,&nbsp;Nuo Ye ,&nbsp;Luyao Wang ,&nbsp;Juan Zhou ,&nbsp;Sujuan Xu ,&nbsp;Yu Jiang ,&nbsp;Jiawen Pu ,&nbsp;Lei Zhang ,&nbsp;Xuemei Jia ,&nbsp;Pengfei Xu","doi":"10.1016/j.cancergen.2025.10.105","DOIUrl":"10.1016/j.cancergen.2025.10.105","url":null,"abstract":"<div><div>Epithelial ovarian cancer (EOC) is the deadliest gynecologic cancer in women. Long noncoding RNAs (lncRNAs) are critically involved in malignant progression by modulating proliferation, apoptosis, invasion, metastasis, and chemotherapy resistance. The long noncoding RNA small nucleolar RNA host gene 29 (SNHG29) is involved in multiple malignancies, although its role in EOC has not been elucidated. In our study, SNHG29 expression was significantly downregulated in EOC tissues and was negatively related to lymphatic invasion in EOC patients according to data from the TCGA database. <em>Kaplan–Meier</em> survival analysis revealed that among patients with early stage EOC, compared with patients with low SNHG29 expression levels, patients with high expression levels had markedly longer progression-free survival (PFS) and overall survival (OS) times. Further studies suggested that SNHG29 knockdown enhanced the invasive and migrative potential of EOC cells, whereas SNHG29 overexpression attenuated the invasive and migrative potential capacity. In animal experiments, SNHG29 knockdown significantly promoted lung metastasis in tail vein injection models. Mechanistically, the downregulation of SNHG29 expression inhibited its competitive endogenous RNA activity, resulting in increased miR-20b-3p availability and subsequent degradation of the downstream target gene GNAI3, as determined by RNA immunoprecipitation (RIP) and luciferase reporter gene assays. miR-20b-3p inhibition significantly reduces the invasive and metastatic capabilities of EOC cells resulting from a reduction in SNHG29 expression. Our study revealed that SNHG29 may be a promising prognostic factor and therapeutic target for EOC.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"298 ","pages":"Pages 256-267"},"PeriodicalIF":2.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145465176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}