Table 1.
Genes mutated at a statistically significant frequencyin 92 medulloblastomas
| Gene | Description | Mutations | Patients | Unique sites | Silent | Missense | Indel or null | Double null | q |
|---|---|---|---|---|---|---|---|---|---|
| CTNNB1 | beta-catenin | 6 | 6 | 4 | 0 | 6 | 0 | 0 | <1.8×10−11 |
| PTCH1 | patched homolog 1(Drosophila) | 7 | 7 | 7 | 0 | 0 | 7 | 0 | 4.0×10−9 |
| MLL2 | myeloid/lymphoid or mixed-lineage leukemia 2 | 10 | 8 | 10 | 0 | 2 | 4 | 4 | 4.0×10−9 |
| DDX3X | DEAD box polypeptide 3, X-linked | 7 | 7 | 7 | 0 | 7 | 0 | 0 | 2.3×10−8 |
| GPS2 | G protein pathway suppressor 2 | 3 | 3 | 3 | 0 | 1 | 2 | 0 | 1.2×10−4 |
| TP53 | tumor protein p53 | 3 | 3 | 3 | 0 | 3 | 0 | 0 | 0.039 |
| KDM6A | UTX, lysine (K)-specific demethylase 6A | 3 | 3 | 3 | 0 | 2 | 1 | 0 | 0.042 |
| BCOR | BCL6 co-repressor | 3 | 3 | 3 | 0 | 0 | 3 | 0 | 0.046 |
| SMARCA4 | ATP-dependent helicase | 4 | 4 | 3 | 0 | 4 | 0 | 0 | 0.046 |
| LDB1 | LIM domain binding 1 | 2 | 2 | 2 | 0 | 1 | 1 | 0 | 0.047 |
| CTDNEP1(DULLARD) | CTD nuclear envelope phosphatase 1 | 2 | 2 | 2 | 0 | 0 | 2 | 0 | 0.047 |
| CSNK2B | casein kinase 2, beta polypeptide | 2 | 2 | 2 | 0 | 2 | 0 | 0 | 0.071 |
null = nonsense, frameshift, or splice-site mutations; Double null = null mutations co-occurring in a single tumor; q = q-value, False Discovery Rate (Benjamini-Hochberg procedure). See Supplemental Table 3 for further statistics and subtype analysis.