High frequency of MED12 exon 2 mutations in phyllodes tumours of breast
| Type | cDNA (CCDS43970.1) | Protein | Number of mutations | Frequency (%) |
|---|---|---|---|---|
| Missense | c.131G>C | p.G44A | 3 | 2.7 |
| c.131G>A | p.G44D | 18 | 16.1 | |
| c.131G>T | p.G44V | 13 | 11.6 | |
| c.130G>A | p.G44S | 8 | 7.1 | |
| c.130G>C | p.G44R | 5 | 4.5 | |
| c.130G>T | p.G44C | 5 | 4.5 | |
| c.107T>G | p.L36P | 1 | 0.9 | |
| Splice site | Exon2 (−8 T>A) | p.E33_D34insPQ | 4 | 3.6 |
| Indel | c.128_130delAAG | p.43_44QG>R | 1 | 0.9 |
| c.107_115delTGACGGCCT | p.36_39LTAL>L | 1 | 0.9 | |
| c.118_138delAATGTAAAACAAGGTTTCAAT | p.NVKQGFN40del | 1 | 0.9 | |
| c.123_131delAAAACAAGG | p.KQG42del | 1 | 0.9 | |
| c.134_151delTCAATAACCAGCCTGCTG | p.NNQPAV46del | 1 | 0.9 | |
| c.133_150delTTTCAATAACCAGCCTGC | p.FNNQPA45del | 1 | 0.9 | |
| c.129_131delAGG | p.43_44QG>H | 1 | 0.9 | |
| c.124_144delAAACAAGGTTTCAATAACCAG | p.KQGFNNQ42del | 1 | 0.9 | |
| c.100_120delGATGAACTGACGGCCTTGAAT | p.DELTALN34del | 1 | 0.9 | |
| c.105_131delACTGACGGCCTTGAATGTAAAACAAGG | p.35_44ELTALNVKQG>D | 1 | 0.9 | |
| c.133_144delTTCAATAACCAG | p.FNNQ45del | 1 | 0.9 | |
| c.143_163delAGCCTGCTGTCTCTGGGGATG | p.PAVSGDE49del | 1 | 0.9 | |
| c.132_149delTTTCAATAACCAGCCTGC | p.FNNQPA45del | 1 | 0.9 | |
| Total | 70 | 62.5 |