Table 2. TP53 and CDKN2A mutations.
| N | Diag. | Gene | Mut. | Changed | DBD | Func. | MSKCC impact | FATHMM Impact |
|
|---|---|---|---|---|---|---|---|---|---|
| DNA | amino acid | ||||||||
| 5 | DL | TP53 | N | c.586C>T | p.R196 | + | LOF | NA | Onco./ Cancer |
| 11 | HBS NOS | TP53 | M | c.738G>A | p.M246I | + | LOF | Med. | Onco./ Cancer |
| 16 | DL | TP53 | M | c.818G>A | p.R273H | + | LOF | Med. | Onco./ Cancer |
| 28 | HBL DH |
TP53 | M | c.417G>T c.700T>G | p.K139N p.Y234D | + | LOF LOF | Med. | Onco./ Cancer |
| 32 | BL | TP53 | M | c.843C>A | p.D281E | + | LOF | Med. | Onco./ Cancer |
| 44 | DL | TP53 | M | c.413C>T | p.A138V | + | LOF | Med. | Onco./ Cancer |
| 52 | DL | TP53 | M | c.817C>G | p.R273G | + | LOF | Med. | Onco./ Cancer |
| 58 | DL | TP53 | M | c.701A>G | p.Y234C | + | LOF | Med. | Onco./ Cancer |
| 62 | HBL NOS |
TP53 | M | c.847C>T | p.R283C | + | LOF | Low | Onco./ Cancer |
| 66 | DL | TP53 | M | c.542G>C | p.R181P | + | LOF | Med. | Onco./ Cancer |
| 5 | DL | CDKN2A | M | c.442G>A | p.A148T | - | LOF? | Med. | Neut./ Cancer |
| 35 | BL | CDKN2A | M | c.442G>A | p.A148T | - | LOF? | Med. | Neut./ Cancer |
| 46 | DL | CDKN2A | M | c.442G>A | p.A148T | - | LOF? | Med. | Neut./ Cancer |
| 66 | DL | CDKN2A | M | c.442G>A | p.A148T | - | LOF? | Med. | Neut./ Cancer |
N: case number, Diag: diagnosis, DL: diffuse large B-cell lymphoma, HBL NOS: high-grade B-cell lymphoma not otherwise specified, HBL DH: high-grade B-cell lymphoma double hit, BL: Burkitt lymphoma, Mut: mutational type, N: nonsense mutation, M: missense mutation, DBD: DNA-binding region, Func: function, LOF: loss of function, NA: not available, Med: medium impact, Onco: oncogenic impact, Neut: neutral impact, Cancer: cancer-associated variant