Cancer Genetics最新文献

{"title":"The mechanism of E3 ubiquitin ligase HERC1 regulating ferroptosis in lung adenocarcinoma cells","authors":"Fei Ye ,&nbsp;Yi Xu ,&nbsp;Xujuan Zhu ,&nbsp;Qifeng Ding ,&nbsp;Yifei Wang ,&nbsp;Songhua Lu ,&nbsp;Yongbing Chen","doi":"10.1016/j.cancergen.2025.02.001","DOIUrl":"10.1016/j.cancergen.2025.02.001","url":null,"abstract":"<div><h3>Objective</h3><div>Lung adenocarcinoma (LUAD) is the most prevalent subtype of lung cancer. Herein, we probed into the role of E3 ubiquitin protein ligase family member 1 (HERC1) in promoting ferroptosis and inhibiting LUAD cell proliferation by regulating RAF proto-oncogene serine/threonine-protein kinase (C-RAF).</div></div><div><h3>Methods</h3><div>In cultured human normal lung epithelial cells and non-small cell lung adenocarcinoma cell lines, HERC1 expression was determined by RT-qPCR and Western blot tests. PC-9 and Calu-3 cells were transfected with oe-HERC1, oe-C-RAF or their negative controls. Reactive oxygen species (ROS), malondialdehyde (MDA), glutathione (GSH), and Fe²⁺ levels were assessed by biochemical assays. Cell viability, death, and proliferation were evaluated by CCK-8, LDH and colony formation assays, followed by assessments of HERC1-C-RAF interaction, C-RAF ubiquitin level, and C-RAF protein stability.</div></div><div><h3>Results</h3><div>HERC1 was poorly expressed in LUAD cells. HERC1 promoted LUAD cell ferroptosis and repressed their proliferation and migration, corresponding to reduced levels of system xc-, GPX4, and GSH, as well as elevated levels of ROS, MDA, Fe²⁺, and ACSL4. LUAD cells overexpressing HERC1 displayed decreased C-RAF protein level, HERC1-C-RAF interaction, elevated C-RAF ubiquitin level, and accelerated C-RAF protein degradation, indicating that HERC1 facilitated C-RAF ubiquitin degradation and attenuated C-RAF protein stability <em>via</em> interaction with C-RAF. C-RAF overexpression partially abrogated the regulatory impact of HERC1 on LUAD cell ferroptosis and proliferation.</div></div><div><h3>Conclusion</h3><div>HERC1 expedites C-RAF ubiquitin degradation by interacting with C-RAF, which consequently promotes ferroptosis, thereby inhibiting LUAD cell proliferation.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 92-99"},"PeriodicalIF":1.4,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143454963","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":"Clinical and genetic characteristics in two cases of Birt-Hogg-Dubé syndrome associated with papillary renal cell carcinoma and rare Folliculin (FLCN) variants","authors":"Mark G. Evans ,&nbsp;Logan W. Thomas ,&nbsp;Manando Nakasaki ,&nbsp;Ahmad Charifa ,&nbsp;Anthony Sisk ,&nbsp;Sandy Liu ,&nbsp;Lawrence F. Kuklinski ,&nbsp;Brian Shuch ,&nbsp;Fabiola Quintero-Rivera","doi":"10.1016/j.cancergen.2025.01.007","DOIUrl":"10.1016/j.cancergen.2025.01.007","url":null,"abstract":"<div><div>Birt-Hogg-Dubé syndrome (BHDS) is characterized by autosomal dominant alterations in the <em>Folliculin (FLCN)</em> gene, resulting in cutaneous, pulmonary, and renal abnormalities. In particular, affected individuals are susceptible to the development of renal cell carcinoma (RCC), which most frequently present as chromophobe tumors or hybrid cancers with features of oncocytoma and chromophobe RCC. Type 1 and type 2 papillary neoplasms have rarely been described in the setting of BHDS, and we present two additional cases. Utilizing next-generation sequencing, the patients were found to harbor germline <em>FLCN</em> variants that are not well-documented in the medical literature. While RCCs associated with BHDS are thought to portend a better prognosis compared to their non-syndromic counterparts, the patients described here experienced variable clinical outcomes—one developed locally aggressive disease, distant metastases, and quickly succumbed to his disease.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 65-68"},"PeriodicalIF":1.4,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081813","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":"False positive NUP98 fluorescence in situ hybridization rearrangements in B-acute lymphoblastic leukemia","authors":"Marie-France Gagnon ,&nbsp;Sahil S. Tonk ,&nbsp;Benjamin Carcamo ,&nbsp;Daniel Bustamante ,&nbsp;Mariam Stein ,&nbsp;Sarah H. Johnson ,&nbsp;George Vasmatzis ,&nbsp;Cinthya J. Zepeda-Mendoza ,&nbsp;Patricia T. Greipp ,&nbsp;Xinjie Xu ,&nbsp;Rhett P. Ketterling ,&nbsp;Jess F. Peterson ,&nbsp;Wenjing Wang ,&nbsp;Yajuan J. Liu ,&nbsp;Vijay Tonk ,&nbsp;Karen Tsuchiya ,&nbsp;Santosh Chavali ,&nbsp;Linda B. Baughn","doi":"10.1016/j.cancergen.2025.01.006","DOIUrl":"10.1016/j.cancergen.2025.01.006","url":null,"abstract":"<div><div>Gene fusions involving <em>NUP98</em> have been reported in several hematologic malignancies yet have been very rarely reported in B-acute lymphoblastic leukemia (B-ALL). Two cases of B-ALL for which chromosome banding analysis (CBA) and fluorescence in situ hybridization (FISH) suggested apparent <em>NUP98</em> rearrangements were further investigated with next-generation sequencing-based methodologies to verify the findings obtained with traditional cytogenetic methodologies. In the first case, CBA revealed a hyperdiploid karyotype with multiple structural abnormalities including additional material of unknown origin at 11p15; subsequent break-apart probe (BAP) FISH for <em>NUP98</em> demonstrated 2 intact fusion signals and a single separate 5′<em>NUP98</em> signal. However, whole-genome sequencing found no evidence of a <em>NUP98</em> gene fusion. The results obtained with conventional cytogenetic methodologies were in fact attributable to structural variants (SV) with breakpoints not within <em>NUP98</em> but within the 5′<em>NUP98</em> BAP probe-binding sequence. In the second case, CBA revealed several structural and numeric abnormalities including a complex translocation between chromosomes 11 (at 11p15.4) and 19 (at 19p13.3) and an insertion of unknown material at 11p15.4. BAP FISH demonstrated a typical FISH signal pattern consistent with an apparent <em>NUP98</em> rearrangement. However, no evidence of a <em>NUP98</em> fusion was found on RNA sequencing. In conclusion, the two cases thus presented with clinical false positive <em>NUP98</em> rearrangements by FISH. In the clinical laboratory, SVs in the vicinity of genes involved in recurrent rearrangements in hematologic malignancies may result in misleading results with conventional chromosome methodologies. This may preclude an accurate definition of the genetic attributes of malignancies with ensuing impacts on risk stratification and management. Higher-resolution testing methodologies such as whole-genome sequencing and RNA sequencing may be helpful in resolving unexpected results with conventional chromosome methodologies and enhancing the accuracy of genetic characterization of hematological malignancies in the clinical laboratory.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 57-64"},"PeriodicalIF":1.4,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatoblastoma in a patient with neurofibromatosis type 1: A case report","authors":"A. Praga ,&nbsp;T.Z. Hirsch ,&nbsp;D. Vidaud ,&nbsp;V. Laithier ,&nbsp;E. Puzenat ,&nbsp;J. Zucman-Rossi ,&nbsp;C. Mussini ,&nbsp;P. Kuentz ,&nbsp;J. Piard","doi":"10.1016/j.cancergen.2025.01.005","DOIUrl":"10.1016/j.cancergen.2025.01.005","url":null,"abstract":"<div><h3>Background</h3><div>Neurofibromatosis type 1 (NF1) is one of the most common genodermatoses. It can affect every organ and is associated with an increased risk of benign and malignant tumors. Most common tumoral locations involve nervous system and soft tissues but a large variety of tumors have been described. So far, hepatoblastoma in a patient with NF1 has been reported twice in the literature.</div></div><div><h3>Case presentation</h3><div>A liver mass was discovered in a 11 year-old girl with NF1 leading to a diagnosis of epithelial hepatoblastoma with pulmonary metastasis. Targeted analysis on blood revealed a germline <em>NF1</em> missense variant. Exome sequencing, RNA-seq and methylation analyses performed on tumoral and metastatic samples confirmed the germline <em>NF1</em> variant and showed classical driver variants for hepatoblastoma.</div></div><div><h3>Conclusions</h3><div>We present here the third case of hepatoblastoma in a patient with NF1 and discuss the possible link between this rare tumor and this neurocutaneous genetic condition.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 35-37"},"PeriodicalIF":1.4,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma","authors":"Stephen Gilene ,&nbsp;Sara Knapke ,&nbsp;Daniel Leino ,&nbsp;Somak Roy ,&nbsp;Scott Raskin","doi":"10.1016/j.cancergen.2025.01.004","DOIUrl":"10.1016/j.cancergen.2025.01.004","url":null,"abstract":"<div><h3>Introduction</h3><div><em>POT1</em> tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [<span><span>1</span></span>]. Protection of telomeres protein 1 (<em>POT1</em>) is part of the shelterin protein complex to maintain/protect telomeres [<span><span>2</span></span>]. Proposed mechanisms for oncogenesis with <em>POT1</em> loss of function include telomere elongation and DNA damage response causing genomic instability [<span><span>3</span></span>]. Ependymomas are a heterogeneous group representing one-third of pediatric brain tumors and are locally aggressive with frequent recurrence [<span><span>4</span></span>].</div></div><div><h3>Case presentation</h3><div>A healthy 3-year-old male presented with worsening vertigo, headaches, and emesis. Radiographic studies demonstrated a midline posterior fossa mass in the fourth ventricle. Following a gross total resection, pathology demonstrated a posterior fossa ependymoma, group A. Next generation sequencing (NGS) using our institution's clinically validated panel, “CinCSeq,” identified a <em>POT1</em> splice site variant (c.1164–1G&gt;<em>A</em>; variant allele fraction 46 %). Paired germline testing via the Molecular Characterization Initiative confirmed this variant as heterozygous in the patient. Genetic testing confirmed the <em>POT1</em> pathogenic variant in his mother, who has a history of multiple nevi. The patient completed treatment with focal proton radiotherapy with no evidence of disease recurrence to date.</div></div><div><h3>Discussion</h3><div>To our knowledge, this represents the first documented pediatric ependymoma patient with a familial, germline <em>POT1</em> pathogenic variant. Somatic <em>POT1</em> mutational frequency, as determined by NGS in over 60,000 solid tumors, is 2.94 %. Among this cohort, 48 cases were ependymomas with one non-benign <em>POT1</em> mutation [<span><span>5</span></span>]. Alterations of telomere maintenance have been reported in intracranial ependymomas previously through increased human telomerase reverse transcriptase (hTERT) expression [<span><span>6</span></span>,<span><span>7</span></span>]. This case sheds light on a potential new predisposition for ependymoma development and the expanding phenotype of POT1-TPD. We recognize the <em>POT1</em> pathogenic variant may have been discovered incidentally in this case. Further research is needed to advance our understanding of the association between POT1 genetic alterations and ependymomas.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 38-43"},"PeriodicalIF":1.4,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the role of transcription factor TWIST1 in bladder cancer progression","authors":"Meryem EL Azzouzi ,&nbsp;Boutaina Addoum ,&nbsp;Hajar El Ahanidi ,&nbsp;Ilias Hassan ,&nbsp;Mohammed Tetou ,&nbsp;Ahmed Ameur ,&nbsp;Abderrahmane Al Bouzidi ,&nbsp;Mohamed Oukabli ,&nbsp;Laila Benbacer ,&nbsp;Mohammed Attaleb ,&nbsp;Mohammed El Mzibri ,&nbsp;Imane Chaoui","doi":"10.1016/j.cancergen.2025.01.003","DOIUrl":"10.1016/j.cancergen.2025.01.003","url":null,"abstract":"<div><div>The transcription factor <em>TWIST1</em> is a major regulator of Epithelial-Mesenchymal Transition, enhancing cancer cell mobility and invasive potential. Overexpression of <em>TWIST1</em> is associated with tumor progression and poor prognosis. In our study, we explored the role of TWIST1 as both a prognostic biomarker and a therapeutic target in bladder cancer (BC), as well as the relationship between its promoter methylation and mRNA expression in bladder cancer patients. In cohort of 66 bladder cancer patients, we explored <em>TWIST1</em> expression levels in tumor samples through RT-qPCR analysis;</div><div>Our findings revealed a significant correlation between high <em>TWIST1</em> expression levels and advanced bladder tumor stages, grades, and progression; suggesting its association with aggressive BC phenotypes. Importantly, patients with low <em>TWIST1</em> expression exhibited significantly prolonged disease-free survival (DFS), indicating its potential as a prognostic marker for stratification and as a therapeutic target in advanced BC. In contrast, there was no direct correlation between <em>TWIST1</em> promoter methylation status and <em>TWIST1</em> expression levels in BC tumors.</div><div>In summary, <em>TWIST1</em> expression could play an important role as a molecular marker for BC patients’ prognosis and overall survival prediction. Moreover, our results suggest that <em>TWIST1</em> promoter methylation doesn't affect the gene expression in BC. Furthermore, understanding the molecular mechanisms driving <em>TWIST1</em> dysregulation may uncover novel therapeutic targets to improve the management of BC.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 44-48"},"PeriodicalIF":1.4,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053948","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":"In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers","authors":"Majd Al-Marrawi ,&nbsp;Ruben C. Petreaca ,&nbsp;Renee A. Bouley","doi":"10.1016/j.cancergen.2025.01.002","DOIUrl":"10.1016/j.cancergen.2025.01.002","url":null,"abstract":"<div><div>DNA double strand breaks (DSBs) can be generated spontaneously during DNA replication and are repaired primarily by Homologous Recombination (HR). However, efficient repair requires chromatin remodeling to allow the recombination machinery access to the break. <em>TIP60</em> is a complex conserved from yeast to humans that is required for histone acetylation and modulation of HR activity at DSBs. Two enzymatic activities within the <em>TIP60</em> complex, <em>KAT5</em> (a histone acetyltransferase) and <em>RUVBL1</em> (an AAA+ ATPase) are required for efficient HR repair. Post-translational modification of <em>RUVBL1</em> by the <em>PRMT5</em> methyltransferase activates the complex acetyltransferase activity and facilitates error free HR repair. In <em>S. pombe</em> a direct interaction between <em>PRMT5</em> and the acetyltransferase subunit of the <em>TIP60</em> complex (<em>KAT5</em>) was also identified. The <em>TIP60</em> complex has been partially solved experimentally in both humans and <em>S. cerevisiae</em>, but not <em>S. pombe</em>. Here, we used <em>in silico</em> protein structure analysis to investigate structural conservation between <em>S. pombe</em> and human <em>PRMT5</em> and <em>RUVBL1</em>. We found that there is more similarity in structure conservation between <em>S. pombe</em> and human proteins than between <em>S. cerevisiae</em> and human. Next, we queried the COSMIC database to analyze how mutations occurring in human cancers affect the structure and function of these proteins. Artificial intelligence algorithms that predict how likely mutations are to promote cellular transformation and immortalization show that <em>RUVBL1</em> mutations should have a more drastic effect than <em>PRMT5</em>. Indeed, <em>in silico</em> protein structural analysis shows that <em>PRMT5</em> mutations are less likely to destabilize enzyme function. Conversely, most <em>RUVBL1</em> mutations occur in a region required for interaction with its partner (<em>RUVBL2</em>). These data suggests that cancer mutations could destabilize the <em>TIP60</em> complex. Sequence conservation analysis between <em>S. pombe</em> and humans shows that the residues identified in cancer cells are highly conserved, suggesting that this may be an essential process in eukaryotic DSB repair. These results shed light on mechanisms of DSB repair and also highlight how <em>S. pombe</em> remains a great model system for analyzing DSB repair processes that are tractable in human cells.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 49-56"},"PeriodicalIF":1.4,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Occult collision tumor of the gastroesophageal junction comprising adenocarcinomas with distinct molecular profiles","authors":"Maryjka B. Blaszczyk ,&nbsp;Sarag A. Boukhar ,&nbsp;Zhongren Zhou ,&nbsp;Lyudmyla Berim ,&nbsp;Shridar Ganesan ,&nbsp;Gregory M. Riedlinger","doi":"10.1016/j.cancergen.2025.01.001","DOIUrl":"10.1016/j.cancergen.2025.01.001","url":null,"abstract":"<div><div>Collision tumors, characterized by the coexistence of two unique neoplasms in close approximation, are rare and pose diagnostic challenges. This is particularly true when the unique neoplasms are of the same histologic type. Here we report such a case where comprehensive tumor profiling by next generation sequencing (NGS) as well as immunohistochemistry revealed two independent adenocarcinomas comprising what was initially diagnosed as a single adenocarcinoma of the gastroesophageal (GEJ) junction. Biopsy of the esophageal portion of the GEJ mass showed a mismatch repair deficient tumor with loss of immunoreactivity for MLH1 and PMS2, while the biopsy taken from the gastric portion of the mass revealed a separate tumor with a discordant, non-overlapping, set of molecular alterations, including an <em>EML4::ALK</em> fusion, as well as intact MMR. This case illustrates one way in which NGS can reveal diagnoses such as collision tumor that are wholly unexpected based on clinical and histological grounds. Such diagnoses can have important implications for patient care, particularly in cases where there is discordance for targetable molecular alterations.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 27-34"},"PeriodicalIF":1.4,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142979642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Omics approaches: Role in acute myeloid leukemia biomarker discovery and therapy","authors":"Fatemeh Sadat Shafiei ,&nbsp;Saeid Abroun ,&nbsp;Sadaf Vahdat ,&nbsp;Mohammad Rafiee","doi":"10.1016/j.cancergen.2024.12.006","DOIUrl":"10.1016/j.cancergen.2024.12.006","url":null,"abstract":"<div><div>Acute myeloid leukemia (AML) is the most common acute leukemia in adults and has the highest fatality rate. Patients aged 65 and above exhibit the poorest prognosis, with a mere 30 % survival rate within one year. One important issue in optimizing outcomes for AML patients is their limited ability to predict responses to specific therapies, response duration, and likelihood of relapse. Despite rigorous therapeutic interventions, a significant proportion of patients experience relapse. Consequently, there is a pressing need to introduce new targets for therapy. Sequencing and biotechnology have come a long way in the last ten years. This has made it easier for many omics technologies, like genomics, transcriptomics, proteomics, and metabolomics, to study molecular mechanisms of AML. An integrative approach is necessary to understand a complex biological process fully and offers an important opportunity to understand the information underlying diseases. In this review, we studied papers published between 2010 and 2024 employing omics approaches encompassing diagnosis, prognosis, and risk stratification of AML. Finally, we discuss prospects and challenges in applying -omics technologies to the discovery of novel biomarkers and therapy targets. Our review may be helpful for omics researchers who want to study AML from different molecular aspects.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 14-26"},"PeriodicalIF":1.4,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972981","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":"Genetic analysis uncovers potential mechanisms linking juvenile ldiopathic arthritisto breast cancer: A Bioinformatic Pilot study","authors":"Jianping Jiang ,&nbsp;Bolong Yin ,&nbsp;Xiangrong Luo ,&nbsp;Yan Chen ,&nbsp;Changyuan Wei","doi":"10.1016/j.cancergen.2024.09.004","DOIUrl":"10.1016/j.cancergen.2024.09.004","url":null,"abstract":"<div><h3>Background</h3><div>In recent years, concerns have emerged regarding the potential link between Juvenile idiopathic arthritis (JIA) and an elevated risk of developing breast cancer. However, the potential relationship between JIA and breast cancer is currently unclear. The objective of this study is to investigate the mechanism of JIA on cancer risk.</div></div><div><h3>Methods</h3><div>Use the Bulk-seq data related to JIA, selected from the GEO database, to explore potential candidate genes using methods such as WGCNA and consensus machine learning labeling. Verify using breast cancer Bulk-seq data from TCGA and scRNA-seq analyses.</div></div><div><h3>Results</h3><div>A total of 2050 genes potentially related to JIA were identified by WGCNA, and after merged with differentially expressed genes, 43 potential candidate genes were found. Subsequently, consensus machine learning label analysis was conducted on the aforementioned genes, and a total of 6 genes closely related to JIA were identified. In breast cancer, we found that PRRG4, NCR3 and CREB5 also had significant differences in TCGA. And it is closely related to prognosis. ScRNA-seq analysis showed that the expression of PRRG4 was different in T cells in JIA, and PRRG4 was mainly expressed in T cells in breast cancer.</div></div><div><h3>Conclusions</h3><div>The findings of this study support a mechanism between JIA and an increased risk of breast cancer.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"290 ","pages":"Pages 51-55"},"PeriodicalIF":1.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899740","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}