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. 2012 Apr;67(Suppl 1):7–11. doi: 10.6061/clinics/2012(Sup01)03

Table 5.

Clinical characteristics and RET mutations in families with MEN2.

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