Table 5.
Family number | Individuals analyzed/mutated | MTC/CCH | ATA risk | Age of proband at diagnosis (yr) of any tumor | Phenotype | Codon/protein substitution | PHEO (number) | HPT (number) |
1 | 26/11 | 8/3 | C | 42 | MEN2A/CLA | C634W | 3 | 0 |
2 | 7/5 | 5/0 | C | 28 | MEN2A | C634W | 2 | 0 |
3 | 3/1 | 1/0 | C | 43 | MEN2A/CLA | C634W | 1 | 0 |
4 | 4/1 | 1/0 | C | 23 | MEN2A | C634R | 1 | 1 |
5 | 6/5 | 5/0 | C | 38 | MEN2A | C634R | 1 | 1 |
6 | 7/4 | 4/0 | C | 33 | MEN2A | C634R | 1 | 0 |
7 | 3/1 | 1/0 | C | 26 | MEN2A | C634R | 1 | 0 |
8 | 6/4 | 4/0 | C | 35 | MEN2A | C634G | 2 | 0 |
9 | 9/5 | 5/0 | C | 29 | MEN2A | C634F | 2 | 0 |
10 | 9/2 | 2/0 | C | 37 | FMTC | C634Y | 0 | 0 |
11 | 2/2 | 2/0 | B | 40 | FMTC | C618R | 0 | 0 |
12 | 17/6 | 5/1 | B | 50 | FMTC | C620R | 0 | 0 |
13 | 11/7 | 5/2 | B | 18 | MEN2A | C620R | 2 | 0 |
14 | 6/2 | 1/1 | A | 40 | FMTC | V804M | 0 | 0 |
15 | 3/2 | 2/0 | A | 47 | FMTC | S891A | 0 | 0 |
16 | 2/2 | 2/0 | D | 32 | MEN2B | M918T | 1 | 0 |
17 | 3/1 | 1/0 | D | 14 | MEN2B | M918T | 0 | 0 |
18 | 3/1 | 1/0 | D | 4 | MEN2B | M918T | 0 | 0 |
19 | 2/2 | 2/0 | pending | 16 | MEN2A | pending | 1 | 0 |
total | 129/63 | 56/7 | 17 | 2 |