Linking genes, genomic instability and molecular subgroups in medulloblastoma
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ABSTRACT:
PROVIDER: EGAS00001000085 | EGA |
REPOSITORIES: EGA
Publications
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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