Recurrently mutated genes identified by using WES in 16 patients with B-PLL
| Gene . | No. of cases . | No. of mutations identified . | Mutations . | Biological process . |
|---|---|---|---|---|
| TP53 (NM_000546) | 6 | 7 | p.A129Pfs*41 + p.V132L, T205C, V236G, A248D, L275Q, R282P | Cell cycle, apoptosis |
| MYD88 (NM_002468) | 4 | 4 | L265Px2, M232T, S219C | NF-kB pathway |
| BCOR (NM_001123385) | 4 | 4 | F924C, N1459Sx2, P1648Lfs*4 | Chromatin remodeling |
| MYC (NM_002467) | 3 | 3 | V160L, S161L, F389L | Cell cycle |
| SF3B1 (NM_012433) | 3 | 3 | K700Ex3 | Spliceosome |
| SETD2 (NM_014159) | 2 | 2 | 2 p.Gly878Glnfs*14, L1577P | Chromatin remodeling (histone H3K36 methyltransferase) |
| CHD2 (NM_001271) | 2 | 2 | P1387Rfs*13, V1163Gfs*3 | Chromatin remodeling |
| CXCR4 (NM_003467) | 2 | 2 | S338X, S325Qfs*22 | Cell migration |
| BCLAF1 (NM_001077440) | 2 | 2 | R820C, W211X | RNA processing factor |
| NFASC (NM_001005388) | 2 | 2 | T946I, V644M | Neuronal development |
| Gene . | No. of cases . | No. of mutations identified . | Mutations . | Biological process . |
|---|---|---|---|---|
| TP53 (NM_000546) | 6 | 7 | p.A129Pfs*41 + p.V132L, T205C, V236G, A248D, L275Q, R282P | Cell cycle, apoptosis |
| MYD88 (NM_002468) | 4 | 4 | L265Px2, M232T, S219C | NF-kB pathway |
| BCOR (NM_001123385) | 4 | 4 | F924C, N1459Sx2, P1648Lfs*4 | Chromatin remodeling |
| MYC (NM_002467) | 3 | 3 | V160L, S161L, F389L | Cell cycle |
| SF3B1 (NM_012433) | 3 | 3 | K700Ex3 | Spliceosome |
| SETD2 (NM_014159) | 2 | 2 | 2 p.Gly878Glnfs*14, L1577P | Chromatin remodeling (histone H3K36 methyltransferase) |
| CHD2 (NM_001271) | 2 | 2 | P1387Rfs*13, V1163Gfs*3 | Chromatin remodeling |
| CXCR4 (NM_003467) | 2 | 2 | S338X, S325Qfs*22 | Cell migration |
| BCLAF1 (NM_001077440) | 2 | 2 | R820C, W211X | RNA processing factor |
| NFASC (NM_001005388) | 2 | 2 | T946I, V644M | Neuronal development |