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The German Cancer Research Center (DKFZ) Integrative Bioinformatics and Systems Biology (iBioS)

ABSTRACT: Organisation EGAO00000000029

PROVIDER: EGAO00000000029 | EGA |

REPOSITORIES: EGA

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Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

Rausch Tobias T   Jones David T W DT   Zapatka Marc M   Stütz Adrian M AM   Zichner Thomas T   Weischenfeldt Joachim J   Jäger Natalie N   Remke Marc M   Shih David D   Northcott Paul A PA   Pfaff Elke E   Tica Jelena J   Wang Qi Q   Massimi Luca L   Witt Hendrik H   Bender Sebastian S   Pleier Sabrina S   Cin Huriye H   Hawkins Cynthia C   Beck Christian C   von Deimling Andreas A   Hans Volkmar V   Brors Benedikt B   Eils Roland R   Scheurlen Wolfram W   Blake Jonathon J   Benes Vladimir V   Kulozik Andreas E AE   Witt Olaf O   Martin Dianna D   Zhang Cindy C   Porat Rinnat R   Merino Diana M DM   Wasserman Jonathan J   Jabado Nada N   Fontebasso Adam A   Bullinger Lars L   Rücker Frank G FG   Döhner Konstanze K   Döhner Hartmut H   Koster Jan J   Molenaar Jan J JJ   Versteeg Rogier R   Kool Marcel M   Tabori Uri U   Malkin David D   Korshunov Andrey A   Taylor Michael D MD   Lichter Peter P   Pfister Stefan M SM   Korbel Jan O JO  

Cell 20120101 1-2

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 statu  ...[more]

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