ArticleProceedings of the National Academy of Sciences of the United States of America2009
Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Meta-analysis of the association between overexpression of RAD51 family genes and prognosis and clinical features in breast cancer.Scientific reports · 2025Pooled it
- Overexpressed XRCC2 as an independent risk factor for poor prognosis in glioma patients.Molecular medicine (Cambridge, Mass.) · 2021Pooled it
- G-quadruplexes as a source of vulnerability in BRCA2Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Review
- A gene dosage-dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH-medulloblastoma.Neuropathology and applied neurobiology · 2022Article
- Medulloblastoma and the DNA Damage Response.Frontiers in oncology · 2022Review
- Comprehensive Analysis of the Expression and Prognosis for RAD51 Family in Human Breast Cancer.International journal of general medicine · 2022Article
- Article
- Review
- GLI1: A Therapeutic Target for Cancer.Frontiers in oncology · 2021Review
- Atm deficiency in the DNA polymerase β null cerebellum results in cerebellar ataxia and Itpr1 reduction associated with alteration of cytosine methylation.Nucleic acids research · 2020Article
- Loss of H3K36 Methyltransferase SETD2 Impairs V(D)J Recombination during Lymphoid Development.iScience · 2020Article
- Differential Expression of Genes for Ubiquitin Ligases in Medulloblastoma Subtypes.Cerebellum (London, England) · 2019Article
- Apurinic endonuclease-1 preserves neural genome integrity to maintain homeostasis and thermoregulation and prevent brain tumors.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors.Nature communications · 2018Article
- Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.Cell reports · 2018Article
- Use of the XRCC2 promoter for in vivo cancer diagnosis and therapy.Cell death & disease · 2018Article
- PTEN Signaling in the Postnatal Perivascular Progenitor Niche Drives Medulloblastoma Formation.Cancer research · 2017Article
- ATR maintains chromosomal integrity during postnatal cerebellar neurogenesis and is required for medulloblastoma formation.Development (Cambridge, England) · 2016Article
- Evasion of cell senescence in SHH medulloblastoma.Cell cycle (Georgetown, Tex.) · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Inactivation of homologous recombination (HR) or nonhomologous end-joining (NHEJ) predisposes to a spectrum of tumor types. Here, we inactivated DNA double-strand break repair (DSBR) proteins, DNA Ligase IV (Lig4), Xrcc2, and Brca2, or combined Lig4/Xrcc2 during neural development using Nestin-cre. In all cases, inactivation of these repair factors, together with p53 loss, led to rapid medulloblastoma formation. Genomic analysis of these tumors showed recurring chromosome 13 alterations via chromosomal loss or translocations involving regions containing Ptch1. Sequence analysis of the remaining Ptch1 allele showed a variety of inactivating mutations in all tumors analyzed, highlighting the critical tumor suppressor function of this hedgehog-signaling regulator. We also observed genomic amplification or up-regulation of either N-Myc or cyclin D2 in all medulloblastomas. Additionally, chromosome 19, which contains Pten, was also selectively deleted in medulloblastoma arising after disruption of HR. Thus, our data highlight the preeminence of Ptch1 as a tumor suppressor in cerebellar granule cells and reveal other genomic events central to the genesis of medulloblastoma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.