ArrayExpress Uploader04469MB-CL8yrs 4mosWhiteG4maleMB-CL8yrs 3mosBlackG4maleMB-CL6yrs 6mosWhiteWNTfemaleMB-CL9yrs 2mosWhiteG4maleMB-DN8yrs 6mosAsianSHHmaleMB-CL8yrs 1mosWhiteG4femaleMB-CL8yrs 8mosWhiteG4maleMB-CL9yrs 0mosWhiteG4femaleMB-AN10yrs 10mosWhiteG3maleMB-CL9yrs 8mosotherG3maleMB-CL4yrs 11mosWhiteG3maleMB-CL5yrs 2mosHispanicG3maleMB-AN8yrs 9mosHispanicG4maleMB-CL9yrs 4mosWhiteG4maleMB-CL14yrs 8mosHispanicG4maleMB-CL9yrs 1mosWhiteWNTfemaleMB-AN4yrs 8mosWhiteG3maleMB-CL7yrs 9mosAsian IndianG4femaleMB-CL3yrs 4mosWhiteG4femaleMB-CL5yrs 5mosWhiteG4maleMB-CL11yrs 9mosWhiteG4maleMB-CL6yrs 9mosHispanicG4maleMB-AN12yrs 11mosWhiteG3maleMB-AN3yrs 4mosWhiteG3maleMB-CL13yrs 5mosHispanicG4femaleMB-CL11yrs 7mosWhiteWNTmaleMB-CL3yrs 8mosWhiteG4maleMB-CL5yrs 0mosWhiteG4maleMB-DN16yrs 1mosWhiteSHHfemaleMB-AN10yrs 0mosAsian IndianSHHfemaleMB-CL3yrs 2mosAsianSHHfemaleMB-AN8yrs 7mosWhiteSHHfemaleMB-AN11yrs 9mosWhiteG4maleMB-CL8yrs 7mosWhiteG3maleMB-AN3yrs 2mosHispanicG3maleMB-CL4yrs 3mosWhiteG4maleMB-AN6yrs 11mosHispanicG3maleMB-AN6yrs 2mosHispanicG4maleMB-AN11yrs 7mosWhiteG4maleMB-CL12yrs 11mosAsianG4femaleMB-Myo10yrs 10mosWhiteUmaleMB-CL16yrs 8mosWhiteSHHmaleMB-DN7yrs 0mosAsianSHHfemaleMB-CL8yrs 9mosHispanicSHHmaleMB-AN6yrs 9mosBlackG4femaleMB-CL8yrs 8mosWhiteG4maleMB-CL5yrs 2mosHispanicG3maleMB-CL9yrs 2mosPacific IslanderWNTfemaleMB-CL6yrs 4mosHispanicG4maleMB-CL6yrs 11mosWhiteG4maleMB-DN8yrs 4mosBlackSHH OUTLIERmaleMB-AN13yrs 7mosWhiteG3maleMB-CL6yrs 4mosBlackG4femaleMB-CL5yrs 9mosAsian IndianG4femaleMB-AN9yrs 2mosWhiteG4maleMB-CL8yrs 8mosWhiteG4maleMB-CL8yrs 2mosWhiteG4maleMB-CL5yrs 10mosAsian IndianG4maleMB-AN7yrs 1mosotherG3femaleMB-CL3yrs 11mosAsianG3maleMB-CL8yrs 2mosHispanicWNTfemaleMB-CL5yrs 0mosWhiteG3maleMB-CL10yrs 3mosWhiteG3maleMB-CL8yrs 5mosWhiteWNTmaleMB-CL8yrs 5mosotherWNTfemaleMB-CL8yrs 4mosAsianWNTfemaleMB-Myo9yrs 1mosAsianUfemaleMB-CL6yrs 11mosWhiteG4maleMB-CL9yrs 10mosWhiteG4maleMB-AN11yrs 8mosWhiteG4maleMB-CL12yrs 1mosWhiteG4maleMB-DN4yrs 1mosWhiteSHHmaleMB-CL12yrs 2mosWhiteG4maleMB-DN5yrs 1mosWhiteSHHmaleMB-CL10yrs 10mosHispanicG4maleMB-CL5yrs 9mosBlackG4malearrayexpress_sid4Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive...22722829E-GEOD-37418/profile/8773/arrayexpressuploader576braincellchromatindiseaselipmedulloblastomapediatric medulloblastomaDec.12, 2014Falsenovel-mutations-target-distinct-subgroups-of-medulE-GEOD-37418_A-AFFY-44Novel mutations target distinct subgroups of medulloblastoma.Sep.19, 2014Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. 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, e.g., regulators of H3K27 and H3K4 trimethylation in subgroup-3 and 4 (e.g., KDM6A and ZMYM3), and CTNNB1-associated chromatin remodellers in WNT-subgroup tumours (e.g., 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 tumourigenesis. These data provide important new insights into the pathogenesis of medulloblastoma subgroups and highlight targets for therapeutic development. A total of 76 pediatric medulloblastoma samples were analyzed, representing 4 expression classeshttp://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-37418humanhttp://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-37418/samples/