Table 4.
Frequency of RET mutations associated with familial RET syndromes
| Exon | Codon | Amino Acid (wild type→mutant) | Phenotype | Frequency (%), MEN2 cases |
|---|---|---|---|---|
| 8 | 532,533,534 | Ins-Glu-Glu-Cys | FMTC | Rare |
| 533 | Gly-Cys | FMTC | ||
|
| ||||
| 10 | 609 | Cys-Arg | MEN 2A/FMTC | 0–1 |
| Cys-Gly | ||||
| Cys-Tyr | ||||
| 611 | Cys-Ser | MEN 2A/FMTC | 2–3 | |
| Cys-Arg | ||||
| Cys-Tyr | ||||
| Cys-Phe | ||||
| Cys-Trp | ||||
| 618 | Cys-Ser | MEN 2A/FMTC | 3–5 | |
| Cys-Arg | ||||
| Cys-Gly | ||||
| Cys-Tyr | ||||
| Cys-Ser | ||||
| 620 | Cys-Phe | MEN 2A/FMTC | 6–8 | |
| Cys-Ser | ||||
| Cys-Arg | ||||
| Cys-Gly | ||||
| Cys-Tyr | ||||
| Cys-Trp | ||||
|
| ||||
| 11 | 630 | Cys-Tyr | MEN 2A/FMTC | 0–1 |
| Cys-Ser | ||||
| Cys-Phe | ||||
| 634 | Cys-Ser | MEN 2A | 80–90 | |
| Cys-Arg | ||||
| Cys-Gly | ||||
| Cys-Tyr | MEN 2A/FMTC | |||
| Cys-Ser | MEN 2A/FMTC | 80–90 | ||
| Cys-Phe | ||||
| Cys-Trp | ||||
| 635,636,637,638 | Ins-Thr-Ser-Cys-Ala | MEN 2A/FMTC | Rare | |
| 637-638-639 | Ins-Cys-Arg-Thr | MEN 2A | ||
| 648 | Val-Ile | MEN 2A | ||
|
| ||||
| 13 | 768 | Glu-Asp | MEN 2A/FMTC | Rare |
| 790 | Leu-Phe | |||
| 791 | Tyr-Phe | |||
|
| ||||
| 14 | 804 | Val-Met | MEN 2A/FMTC | 0–1 |
| Val-Leu | ||||
|
| ||||
| 15 | 883 | Ala-Phe | MEN 2B | Rare |
| 891 | Ser-Ala | MEN 2A/FMTC | ||
|
| ||||
| 16 | 918 | Met-Thr | MEN 2B | 3–5 |
| 922 | Ser-Tyr | MEN 2B | Rare | |
Adapted from “Management of Medullary Thyroid Cancer” in The Handbook of Endocrine Surgery (RS Sippel, and H Chen, eds.)