Table 5.
Mutational Frequency Data for Genes of Interest Filtered as Described in the Manuscript
| Gene | AYA Mutations | Adult Mutations | AYA Mutations Validated by RNASeq | Adult Mutations Validated by RNASeq | AYA Mutations Validated by RNASeq and are Damaging | Adult Mutations Validated by RNASeq and are Damaging |
|---|---|---|---|---|---|---|
| MYCBP2 | 50% (N=16) | 7% (N=2) | 47% (N=8) | 14% (N=2) | 41% (N=7) | 0% (N=0) |
| SIPA1L1 | 32% (N=10) | 0% (N=0) | 35% (N=6) | 0% (N=0) | 12% (N=2) | 0% (N=0) |
| BRCA2 | 38% (N=12) | 3% (N=1) | 47% (N=8) | 14% (N=2) | 29% (N=5) | 0% (N=0) |
| PTCH1 | 34% (N=11) | 3% (N=1) | 24% (N=4) | 0% (N=0) | 18% (N=3) | 0% (N=0) |
| DEPDC5 | 22% (N=7) | 0% (N=0) | 29% (N=5) | 0% (N=0) | 18% (N=3) | 0% (N=0) |
| TAX1BP1 | 22% (N=7) | 0%(N=0) | 18% (N=3) | 0% (N=0) | 12% (N=2) | 0% (N=0) |
| PHLPP1 | 41% (N=13) | 7% (N=2) | 24% (N=4) | 0% (N=0) | 24% (N=4) | 0% (N=0) |
| TOPORS | 31% (N=10) | 3% (N=1) | 29% (N=5) | 0% (N=0) | 24% (N=4) | 0% (N=0) |
| ATR | 48% (N=15) | 13% (N=4) | 41% (N=7) | 7% (N=1) | 24% (N=4) | 0% (N=0) |
| POLE | 22% (N=9) | 13% (N=4) | 18% (N=3) | 14% (N=2) | 24% (N=4) | 0% (N=0) |
| INPP5F | 38% (N=12) | 3% (N=1) | 24% (N=4) | 7% (N=1) | 18% (N=3) | 0% (N=0) |
Comparison of mutational frequency differences between our AYA and adult colon cancer samples based on various levels of rigor. N=number of samples in each group.