ArticleOncotarget2016
Imprinting defects at human 14q32 locus alters gene expression and is associated with the pathobiology of osteosarcoma.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Biological Sample Collection to Advance Research and Treatment: A Fight Osteosarcoma Through European Research and Euro Ewing Consortium Statement.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Guideline
- Targeting metastasis in paediatric bone sarcomas.Molecular cancer · 2025Review
- Bioinformatics analysis and validation of mesenchymal stem cells related gene MT1G in osteosarcoma.Aging · 2024Article
- DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development.Molecular genetics and genomics : MGG · 2023Article
- YBX1-interacting small RNAs andJournal of bone oncology · 2023Article
- Deregulated expression of the 14q32 miRNA cluster in clear cell renal cancer cells.Frontiers in oncology · 2023Article
- Potential biomarkers for the early detection of bone metastases.Frontiers in oncology · 2023Review
- Article
- miR-486-5p expression is regulated by DNA methylation in osteosarcoma.BMC genomics · 2022Article
- Review
- Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population.Scientific reports · 2018Article
- An imprinted non-coding genomic cluster at 14q32 defines clinically relevant molecular subtypes in osteosarcoma across multiple independent datasets.Journal of hematology & oncology · 2017Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Osteosarcoma is the most common primary bone malignancy affecting children and adolescents. Although several genetic predisposing conditions have been associated with osteosarcoma, our understanding of its pathobiology is rather limited. Here we show that, first, an imprinting defect at human 14q32-locus is highly prevalent (87%) and specifically associated with osteosarcoma patients < 30 years of age. Second, the average demethylation at differentially methylated regions (DMRs) in the 14q32-locus varied significantly compared to genome-wide demethylation. Third, the 14q32-locus was enriched in both H3K4-me3 and H3K27-me3 histone modifications that affected expression of all imprinted genes and miRNAs in this region. Fourth, imprinting defects at 14q32 - DMRs are present in triad DNA samples from affected children and their biological parents. Finally, imprinting defects at 14q32-DMRs were also observed at higher frequencies in an Rb1/Trp53 mutation-induced osteosarcoma mouse model. Further analysis of normal and tumor tissues from a Sleeping Beauty mouse model of spontaneous osteosarcoma supported the notion that these imprinting defects may be a key factor in osteosarcoma pathobiology. In conclusion, we demonstrate that imprinting defects at the 14q32 locus significantly alter gene expression, may contribute to the pathogenesis of osteosarcoma, and could be predictive of survival outcomes.
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Registered trials
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