Table 2. MED12 mutations in phyllodes tumours and fibroadenomas of the breast.
| Nucleotide | Amino acid | Mutated cases in phyllodes tumour (n=46) | Mutated cases in fibroadenoma (n=58) |
|---|---|---|---|
| c.122T>A | p.V41E | 0 | 2 |
| c.128A>C | p.Q43P | 1 | 0 |
| c.130G>A | p.G44S | 1 | 2 |
| c.130G>C | p.G44R | 3 | 0 |
| c.130G>T | p.G44C | 1 | 2 |
| c.131G>A | p.G44D | 8 | 13 |
| c.131G>C | p.G44A | 2 | 1 |
| c.131G>T | p.G44V | 2 | 3 |
| c.100-8T>A | p.E33_D34insPQ | 2 | 0 |
| c.100-2_141del44 | Loss of splice acceptor | 1 | 0 |
| c.100-37_141del79insTTC | Loss of splice acceptor | 1 | 0 |
| c.100-6_157del64 | Loss of splice acceptor | 1 | 0 |
| c.100-7_134del42 | Loss of splice acceptor | 1 | 0 |
| c.100-11_129del41 | Loss of splice acceptor | 0 | 1 |
| c.100-22_100-1del22 | Loss of splice acceptor | 0 | 1 |
| c.101A>G, c.104_112del9 | p.D34G, p.E35_T37 | 1 | 0 |
| c.104_121dup18 | p.E35_N40dup | 1 | 0 |
| c.104_121del18 | p.E35_N40del | 0 | 1 |
| c.110_118dup9 | p.T37_L39dup | 0 | 1 |
| c.111_155del45 | p.A38_S52del | 1 | 1 |
| c.113_121del9 | p.A38_N40del | 0 | 1 |
| c.117_134del18 | p.L39_G44del | 1 | 0 |
| c.119_148del30 | p.N40T, p.V41_A50del | 0 | 1 |
| c.120_125del6 | p.N40_V41del | 0 | 1 |
| c.122_148del27 | p.V41_P49del | 1 | 1 |
| c.122_157del36 | p.V41_S52del | 0 | 2 |
| c.123_158del36 | p.K42_G53del | 1 | 0 |
| c.123_164del42 | p.K42_E55del | 0 | 1 |
| c.124_129dup6 | p.K42_Q43dup | 1 | 0 |
| c.124_150del27, c.150T>C | p.K42_A50del, p.A50A | 1 | 0 |
| c.133_147del15 | p.F45_P49del | 0 | 1 |
| c.129A>G, c.133_150del18 | p.Q43Q, p.F45_A50del | 1 | 0 |
| c.138_164del27 | p.N46_E55del | 1 | 0 |
| c.141_167del27 | p.Q48_H56del | 2 | 0 |
| c.146_166del21 | p.P49_E55del | 1 | 0 |