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Novel mutations target distinct subgroups of medulloblastoma.

Nature | Aug 2, 2012

Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. Here, to identify mutations that drive medulloblastoma, we sequenced the entire genomes of 37 tumours and matched normal blood. One-hundred and thirty-six genes harbouring somatic mutations in this discovery set were sequenced in an additional 56 medulloblastomas. Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP). Modelling of mutations in mouse lower rhombic lip progenitors that generate WNT-subgroup tumours identified genes that maintain this cell lineage (DDX3X), as well as mutated genes that initiate (CDH1) or cooperate (PIK3CA) in tumorigenesis. These data provide important new insights into the pathogenesis of medulloblastoma subgroups and highlight targets for therapeutic development.

Pubmed ID: 22722829 RIS Download

Mesh terms: Animals | CREB-Binding Protein | Cadherins | Cdh1 Proteins | Cell Cycle Proteins | Cell Lineage | Cerebellar Neoplasms | Child | DEAD-box RNA Helicases | DNA Copy Number Variations | DNA Helicases | DNA Mutational Analysis | Disease Models, Animal | Genome, Human | Genomics | Hedgehog Proteins | Histone Demethylases | Histones | Humans | Medulloblastoma | Methylation | Mice | Mutation | Nuclear Proteins | Phosphatidylinositol 3-Kinases | Transcription Factors | Wnt Proteins | beta Catenin

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Associated grants

  • Agency: NCI NIH HHS, Id: R01 CA129541
  • Agency: NCI NIH HHS, Id: R01CA129541
  • Agency: NCI NIH HHS, Id: P01CA96832
  • Agency: NCI NIH HHS, Id: P30CA021765
  • Agency: NCI NIH HHS, Id: P30 CA021765
  • Agency: NCI NIH HHS, Id: P01 CA096832

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This is a list of tools and resources that we have found mentioned in this publication.

COSMIC - Catalogue Of Somatic Mutations In Cancer

Database to store and display somatic mutation information and related details and contains information relating to human cancers. The mutation data and associated information is extracted from the primary literature. In order to provide a consistent view of the data a histology and tissue ontology has been created and all mutations are mapped to a single version of each gene. The data can be queried by tissue, histology or gene and displayed as a graph, as a table or exported in various formats.
Some key features of COSMIC are:
* Contains information on publications, samples and mutations. Includes samples which have been found to be negative for mutations during screening therefore enabling frequency data to be calculated for mutations in different genes in different cancer types.
* Samples entered include benign neoplasms and other benign proliferations, in situ and invasive tumours, recurrences, metastases and cancer cell lines.


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