Table 1. Mutations detected in the patient and their functional implication status.
| Disease relevant gene | Alteration identified | Possible functional implication a |
|---|---|---|
| KRAS | G13D | Yes |
| TET2 | K95fs*18, N439fs*4 | Yes |
| BRCA2 | K1691fs*15 | Yes |
| CEBPA | H24fs*84 | Yes |
| CTNNB1 | S45F | Yes |
| FBXW7 | L234fs*5 | Yes |
| TP53 | P222L | Yes |
| ARID1A | P224fs*8 | Yes |
| ASXL1 | G645fs*12 | Yes |
| CDH1 | A634fs*29 | Yes |
| MLH1 | V612fs*2 | Yes |
| NOTCH2 | S1419fs*8 | Yes |
| ALK | E310D | No |
| ARID2 | R1679Q | No |
| ATR | P315T | No |
| BARD1 | P358_S364del | No |
| CTNNA1 | R540H | No |
| ESR1 | R269C | No |
| FGFR3 | K403fs*93 | No |
| IL7R | I121fs*1 | No |
| IRF4 | K302E | No |
| IRS2 | N21del, P1225L | No |
| JAK1 | P861fs*4 | No |
| JAK2 | V984M | No |
| KDM6A | R621C | No |
| MLL2 | P565L | No |
| MYC | G301D | No |
| MYCN | P237L | No |
| NF1 | R1870W | No |
| NOTCH1 | H196R | No |
| NTRK3 | M452V | No |
| PIK3CG | L91M | No |
| PIK3R1 | I292N, K593E | No |
| PTCH1 | E44del | No |
| RB1 | R910Q | No |
| RUNX1T1 | R336H | No |
| SETD2 | L2486M | No |
| SPEN | I2469V, P255del | No |
| TGFBR2 | T230M | No |
a Functional implication status was reported as part of the patient's genomic profile from Foundation Medicine.