Table 4 Distribution of germline RET pathogenic mutation frequencies observed in China and in 5 major published studies, BrasMEN (17), France (16), Germany (15), ItaMEN (18) and Greece (43). The table references to Lebeault et al. (16) and Rui et al. (17) reported previously and complements our data
RET codon | NO. of families (%) | |||||
|---|---|---|---|---|---|---|
China* | BrasMEN | France | Germany | ItaMEN | Greece | |
V292M§ | 4 (4.9) |  |  |  |  |  |
T388 | Â | Â | Â | Â | 1 (0.4) | Â |
S409Y | 4 (4.9) | Â | Â | Â | Â | Â |
C515 | Â | Â | 2 (0.5) | Â | 1 (0.4) | Â |
dup531 | Â | Â | 1 (0.2) | Â | Â | Â |
G533 | Â | 1 (0.6) | 3 (0.7) | Â | Â | 21 (36.2) |
K603 | Â | Â | 1 (0.2) | Â | Â | Â |
C609 | 1 (1.2) | 7 (4.0) | 5 (1.1) | 1 (0.5) | 6 (2.4) | Â |
C611 | 2 (2.4) | 6 (3.4) | 12 (2.7) | 6 (3.1) | 1 (0.4) | Â |
C618 | 10 (12.2) | 6 (3.4) | 29 (6.5) | 11 (5.8) | 15 (6.1) | 4 (6.9) |
C620 | 3 (3.7) | 6 (3.4) | 31 (7.0) | 14 (7.3) | 9 (3.7) | 5 (8.6) |
C630 | Â | 1 (0.6) | 1 (0.2) | 1 (0.5) | 4 (1.6) | Â |
C634 | 35 (42.7) | 76 (43.2) | 44 (32.4) | 73 (38.2) | 86 (35.1) | 19 (32.8) |
S649 | Â | Â | 2 (0.5) | Â | Â | Â |
K666 | Â | Â | 7 (1.6) | Â | 1 (0.4) | Â |
E768 | Â | 6 (3.4) | 14 (3.2) | 2 (1.0) | 9 (3.7) | 1 (1.7) |
L790 | 10 (12.3) | 3 (1.7) | 43 (9.7) | 26 (13.6) | 8 (3.3) | Â |
V804 | 4 (4.9) | 23 (12.5) | 95 (21.4) | 19 (9.9) | 52 (21.2) | 3 (5.2) |
M848 | Â | Â | Â | Â | 1 (0.4) | Â |
A883 | Â | Â | 3 (0.7) | Â | 1 (0.4) | Â |
S891 | 3 (3.7) | 8 (4.5) | 20 (4.5) | 6 (3.1) | 23 (9.4) | Â |
S904 | Â | Â | Â | Â | 1 (0.4) | Â |
R912 | Â | Â | 1 (0.2) | Â | Â | Â |
M918T | 5 (6.1) | 26 (14.8) | 29 (6.5) | 32 (16.8) | 20 (8.2) | 5 (8.6) |
M918V | 1 (1.2) | 8 (4.5) | 1 (0.2) | Â | Â | Â |
No mutations | Â | Â | Â | Â | 6 (2.4) | Â |
Total | 82 (100) | 168 (100) | 444 (100) | 191 (100) | 245 (100) | 58 (100) |