Table 2.
Chromothripsis-associated amplified regions typically contain medulloblastoma oncogenes
| Chr | Name | Pathway/Process | Sample | Sources |
|---|---|---|---|---|
| 4 | ADAM29 | Axonal Guidance Signaling | LFS-MB1 | (1) |
| 3 | BOC | Sonic Hedgehog (SHH) signalling pathway | LFS-MB1 | (2) |
| 7 | CDK6 | Cell cycle: G1/S check point | LFS-MB2 | (3) |
| 2 | GLI2 | SHH signalling pathway | LFS-MB4 | (2, 3) |
| 15 | IGF1R | Insulin-like growth factor 1 signalling | LFS-MB3 | (3) |
| 2 | MYCN | MAPK- and SHH signalling pathway | LFS-MB4 | (2, 3) |
| 3 | NEK11 | intra-S DNA damage checkpoint | LFS-MB1 | (3) |
| 7 | NAMPT* | Nicotinate and Nicotinamide Metabolism | LFS-MB2 | (3) |
| 2 | NEB** | Striated Muscle Contraction | LFS-MB4 | (1) |
Shown are oncogenes in highly amplified genomic regions (>10-fold increased copy number) occurring in association with chromothripsis in SHH-MB. Sources: (1) Parsons et al. (2011); (2) SHH signalling pathway (manually curated); (3) cancer gene set curated by the Cancer Genome Atlas (The Cancer Genome Atlas Research Network, 2008).
*
NAMPT is C-terminally fused to CDK6.
**
BEB is N terminally fused to ACTR3. Chr, chromosome.