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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

From: Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

RET codon NO. of families (%)
China* BrasMEN France Germany ItaMEN Greece
V292M§ 4 (4.9)      
T388      1 (0.4)  
S409Y 4 (4.9)      
C515    2 (0.5)   1 (0.4)  
dup531    1 (0.2)    
G533   1 (0.6) 3 (0.7)    21 (36.2)
K603    1 (0.2)    
C609 1 (1.2) 7 (4.0) 5 (1.1) 1 (0.5) 6 (2.4)  
C611 2 (2.4) 6 (3.4) 12 (2.7) 6 (3.1) 1 (0.4)  
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   1 (0.6) 1 (0.2) 1 (0.5) 4 (1.6)  
C634 35 (42.7) 76 (43.2) 44 (32.4) 73 (38.2) 86 (35.1) 19 (32.8)
S649    2 (0.5)    
K666    7 (1.6)   1 (0.4)  
E768   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)  
V804 4 (4.9) 23 (12.5) 95 (21.4) 19 (9.9) 52 (21.2) 3 (5.2)
M848      1 (0.4)  
A883    3 (0.7)   1 (0.4)  
S891 3 (3.7) 8 (4.5) 20 (4.5) 6 (3.1) 23 (9.4)  
S904      1 (0.4)  
R912    1 (0.2)    
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)    
No mutations      6 (2.4)  
Total 82 (100) 168 (100) 444 (100) 191 (100) 245 (100) 58 (100)
  1. §V292M, Refer in particular to the V292M/R67H/R982C
  2. *Our these 82 families included 72 families with single missense mutation or compound mutations, 1 family with del/ins mutation and other 9 families respectively with V292M/R67H/R982C, S409Y or M918V considered as pathogenic mutations