ArticlePloS one2013
Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 43 citations in OpenAlex.
- DNA-PKcs promotes therapy resistance and metastatic recurrence in neuroblastoma.Cancer letters · 2026Article
- Microhomology-Mediated End-Joining Chronicles: Tracing the Evolutionary Footprints of Genome Protection.Annual review of cell and developmental biology · 2024Review
- Non-homologous end joining shapes the genomic rearrangement landscape of chromothripsis from mitotic errors.Nature communications · 2024Article
- PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas.Scientific reports · 2022Article
- Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design.Cell reports · 2019Article
- Opportunities and challenges of circulating biomarkers in neuroblastoma.Open biology · 2019Review
- A Putative Role of Teneurin-2 and Its Related Proteins in Astrocytes.Frontiers in neuroscience · 2019Article
- Article
- Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.PLoS genetics · 2018Article
- Parp3 promotes long-range end joining in murine cells.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Chromothripsis in acute myeloid leukemia: biological features and impact on survival.Leukemia · 2018Article
- The mutational landscape ofOncotarget · 2018Article
- Teneurins: An Integrative Molecular, Functional, and Biomedical Overview of Their Role in Cancer.Frontiers in neuroscience · 2018Review
- Genomic analysis-integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway.Oncotarget · 2017Article
- Expression of teneurins is associated with tumor differentiation and patient survival in ovarian cancer.PloS one · 2017Article
- Identification of different ALK mutations in a pair of neuroblastoma cell lines established at diagnosis and relapse.Oncotarget · 2016Article
- SV-Bay: structural variant detection in cancer genomes using a Bayesian approach with correction for GC-content and read mappability.Bioinformatics (Oxford, England) · 2016Article
- Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes.PloS one · 2016Article
- Review
- Human Structural Variation: Mechanisms of Chromosome Rearrangements.Trends in genetics : TIG · 2015Review
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Authors and funding
17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuroblastoma is a pediatric cancer of the peripheral nervous system in which structural chromosome aberrations are emblematic of aggressive tumors. In this study, we performed an in-depth analysis of somatic rearrangements in two neuroblastoma cell lines and two primary tumors using paired-end sequencing of mate-pair libraries and RNA-seq. The cell lines presented with typical genetic alterations of neuroblastoma and the two tumors belong to the group of neuroblastoma exhibiting a profile of chromothripsis. Inter and intra-chromosomal rearrangements were identified in the four samples, allowing in particular characterization of unbalanced translocations at high resolution. Using complementary experiments, we further characterized 51 rearrangements at the base pair resolution that revealed 59 DNA junctions. In a subset of cases, complex rearrangements were observed with templated insertion of fragments of nearby sequences. Although we did not identify known particular motifs in the local environment of the breakpoints, we documented frequent microhomologies at the junctions in both chromothripsis and non-chromothripsis associated breakpoints. RNA-seq experiments confirmed expression of several predicted chimeric genes and genes with disrupted exon structure including ALK, NBAS, FHIT, PTPRD and ODZ4. Our study therefore indicates that both non-homologous end joining-mediated repair and replicative processes may account for genomic rearrangements in neuroblastoma. RNA-seq analysis allows the identification of the subset of abnormal transcripts expressed from genomic rearrangements that may be involved in neuroblastoma oncogenesis.
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