ArticleHuman genomics2014
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Article in Human genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 74 citations in OpenAlex.
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- Phosphoproteomics of aged insulin-resistant bone identifies P70S6K phosphorylation of AFF4 as a gene-specific transcriptional regulator.Nature communications · 2025Article
- Osteosarcoma: A Comprehensive Morphological and Molecular Review with Prognostic Implications.Biology · 2025Review
- Musculoskeletal Complications in COVID-19: Exploring the Role of Key Biomarkers.International journal of molecular sciences · 2025Review
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- Comparison of Differentially Expressed Genes in Human and Canine Osteosarcoma.Life (Basel, Switzerland) · 2025Article
- Clinical Differences Among Histological Categories of Sarcoma: Insights from 97,062 Patients.Cancers · 2025Article
- Causal effect of gut microbiota metabolic pathways on CSAG1 expression in chondrosarcoma: a mendelian randomization analysis.BMC cancer · 2025Article
- Integrative DNA methylome and transcriptome analysis identify potential genes on the influence of dilated cardiomyopathy-associated heart failure.Clinical epigenetics · 2025Article
- Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.Pediatric reports · 2025Article
- The Role of Radiosensitizing Drugs in Osteosarcoma Treatment: Mechanisms and Clinical Perspectives.Drug design, development and therapy · 2025Review
- Imaging, clinical, and histopathological challenges in diagnosing retroperitoneal extraskeletal osteosarcoma.Frontiers in oncology · 2025Article
- Genetic Uncertainties Fueling Cholangiocarcinoma Progression.Current genomics · 2025Review
- Potential Links Between ANRIL and MiRNAs in Various Cancers.Combinatorial chemistry & high throughput screening · 2025Review
- Genetics and Molecular Pathogenesis of the Chondrosarcoma: A Review of the Literature.Current issues in molecular biology · 2024Review
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- Up-regulation of NCAPG mediated by E2F1 facilitates the progression of osteosarcoma through the Wnt/β-catenin signaling pathway.Translational cancer research · 2024Article
- Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteosarcoma (OS) is a prevalent primary malignant bone tumour with unknown etiology. These highly metastasizing tumours are among the most frequent causes of cancer-related deaths. Thus, there is an urgent need for different markers, and with our study, we were aiming towards finding novel biomarkers for OS.
methodsFor that, we analysed the whole exome of the tumorous and non-tumour bone tissue from the same patient with OS applying next-generation sequencing. For data analysis, we used several softwares and combined the exome data with RNA-seq data from our previous study.
resultsIn the tumour exome, we found wide genomic rearrangements, which should qualify as chromotripsis-we detected almost 3,000 somatic single nucleotide variants (SNVs) and small indels and more than 2,000 copy number variants (CNVs) in different chromosomes. Furthermore, the somatic changes seem to be associated to bone tumours, whereas germline mutations to cancer in general. We confirmed the previous findings that the most significant pathway involved in OS pathogenesis is probably the WNT/β-catenin signalling pathway. Also, the IGF1/IGF2 and IGF1R homodimer signalling and TP53 (including downstream tumour suppressor gene EI24) pathways may have a role. Additionally, the mucin family genes, especially MUC4 and cell cycle controlling gene CDC27 may be considered as potential biomarkers for OS.
conclusionsThe genes, in which the mutations were detected, may be considered as targets for finding biomarkers for OS. As the study is based on a single case and only DNA and RNA analysis, further confirmative studies are required.
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