Other,Multiomics

Dataset Information

1K

DKFZ-IBIOS


ABSTRACT: Organisation EGAO00000000036

PROVIDER: EGAO00000000036 | EGA |

REPOSITORIES: EGA

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Publications

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.

Kool Marcel M   Jones David T W DT   Jäger Natalie N   Northcott Paul A PA   Pugh Trevor J TJ   Hovestadt Volker V   Piro Rosario M RM   Esparza L Adriana LA   Markant Shirley L SL   Remke Marc M   Milde Till T   Bourdeaut Franck F   Ryzhova Marina M   Sturm Dominik D   Pfaff Elke E   Stark Sebastian S   Hutter Sonja S   Seker-Cin Huriye H   Johann Pascal P   Bender Sebastian S   Schmidt Christin C   Rausch Tobias T   Shih David D   Reimand Jüri J   Sieber Laura L   Wittmann Andrea A   Linke Linda L   Witt Hendrik H   Weber Ursula D UD   Zapatka Marc M   König Rainer R   Beroukhim Rameen R   Bergthold Guillaume G   van Sluis Peter P   Volckmann Richard R   Koster Jan J   Versteeg Rogier R   Schmidt Sabine S   Wolf Stephan S   Lawerenz Chris C   Bartholomae Cynthia C CC   von Kalle Christof C   Unterberg Andreas A   Herold-Mende Christel C   Hofer Silvia S   Kulozik Andreas E AE   von Deimling Andreas A   Scheurlen Wolfram W   Felsberg Jörg J   Reifenberger Guido G   Hasselblatt Martin M   Crawford John R JR   Grant Gerald A GA   Jabado Nada N   Perry Arie A   Cowdrey Cynthia C   Croul Sydney S   Zadeh Gelareh G   Korbel Jan O JO   Doz Francois F   Delattre Olivier O   Bader Gary D GD   McCabe Martin G MG   Collins V Peter VP   Kieran Mark W MW   Cho Yoon-Jae YJ   Pomeroy Scott L SL   Witt Olaf O   Brors Benedikt B   Taylor Michael D MD   Schüller Ulrich U   Korshunov Andrey A   Eils Roland R   Wechsler-Reya Robert J RJ   Lichter Peter P   Pfister Stefan M SM  

Cancer cell 20140301 3


Smoothened (SMO) inhibitors recently entered clinical trials for sonic-hedgehog-driven medulloblastoma (SHH-MB). Clinical response is highly variable. To understand the mechanism(s) of primary resistance and identify pathways cooperating with aberrant SHH signaling, we sequenced and profiled a large cohort of SHH-MBs (n = 133). SHH pathway mutations involved PTCH1 (across all age groups), SUFU (infants, including germline), and SMO (adults). Children >3 years old harbored an excess of downstream  ...[more]

Publication: 1/16

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