Table 2. RET mutations identified in sporadic MTC cases.
| Exon | Type of alteration | Number of patients | % of patients carrying a RET somatic mutation |
|---|---|---|---|
| 10 | TGC>CGC (Cys618Arg)a | 1 | 9.1% |
| TGC>CGC (Cys620Arg) | 1 | ||
| TGC>TCC (Cys620Ser) | 1 | ||
| 11 | TGC>CGC (Cys630Arg) | 2 | 21.2% |
| TGC>GGC (Cys630Gly) | 1 | ||
| TGC>CGC (Cys634Arg) | 2 | ||
| TGC>TAC (Cys634Tyr) | 1 | ||
| c.1881del18+ TGC>TGT (Cys634Cys) | 1 | ||
| 15 | GCT>TTT(Ala883Phe)+ GTA>GTT (Val882Val) | 1 | 9.1% |
| GCT>TTT (Ala883Phe) | 2 | ||
| 16 | ATG>ACG (Met918Thr) | 20 | 60.6% |
Abbreviations: MTC=medullary thyroid carcinomas; RET=REarranged during Transfection.
a
This mutation was in the hemizygous status.
Mutations were present only in tumour DNA.
The two novel RET proto-oncogene variants are represented in bold.