| http://purl.uniprot.org/citations/22265402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22265402 | http://www.w3.org/2000/01/rdf-schema#comment | "Genomic rearrangements are thought to occur progressively during tumor development. Recent findings, however, suggest an alternative mechanism, involving massive chromosome rearrangements in a one-step catastrophic event termed chromothripsis. We report the whole-genome sequencing-based analysis of a Sonic-Hedgehog medulloblastoma (SHH-MB) brain tumor from a patient with a germline TP53 mutation (Li-Fraumeni syndrome), uncovering massive, complex chromosome rearrangements. Integrating TP53 status with microarray and deep sequencing-based DNA rearrangement data in additional patients reveals a striking association between TP53 mutation and chromothripsis in SHH-MBs. Analysis of additional tumor entities substantiates a link between TP53 mutation and chromothripsis, and indicates a context-specific role for p53 in catastrophic DNA rearrangements. Among these, we observed a strong association between somatic TP53 mutations and chromothripsis in acute myeloid leukemia. These findings connect p53 status and chromothripsis in specific tumor types, providing a genetic basis for understanding particularly aggressive subtypes of cancer."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2011.12.013"xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Benes V."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Blake J."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Dohner K."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Martin D."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Kool M."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Wang Q."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Zhang C."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Beck C."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Shih D."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Korbel J.O."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Jones D.T."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Koster J."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Porat R."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Witt H."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Lichter P."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Rausch T."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Brors B."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Pfaff E."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Zapatka M."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "von Deimling A."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Eils R."xsd:string |
| http://purl.uniprot.org/citations/22265402 | http://purl.uniprot.org/core/author | "Jabado N."xsd:string |