RET mutation and pattern | Nucleotide change | Family (No.) | Sex (M/F) | No. patient / All carriers | MTC | PHEO | CLA | |||
---|---|---|---|---|---|---|---|---|---|---|
No. patient (%) | MAD (range, yrs) | No. patient (%) | MAD (range, yrs) | No. patient (%) | MAD (range, yrs) | |||||
C634Y/V292M/R67H/R982Ca, trans | c.[1901G > A(;)c.874G > A(;)c.200G > A(;)c.2944C > T] | 2 | 0/2 | 2/2 | 2 (100) | 22.5 (13,32) | – | – | – | – |
C634Y/R114H, NA | c.[1901G > A(;)c.341G > A] | 1 | 1/0 | 1/1 | 1 (100) | 15 (15) | – | – | – | – |
C634Y/D489N, trans | c.[1901G > A(;)c.1465G > A] | 2 | 2/1 | 3/3 | 3 (100) | 33.6 (12,34,55) | – | – | – | – |
C634F/V292M/R67H/R982Cb, trans | c.[1901G > T(;)c.874G > A(;)c.200G > A(;)c.2944C > T] | 1 | 0/1 | 1/1 | 1 (100) | 21 (21) | – | – | 1 (100) | 57 |
C634F/T278N, trans | c.[1901G > T(;)c.833C > A] | 1 | 0/1 | 1/1 | 1 (100) | 29 (29) | 1 (100) | 29 (31) | – | – |
C634S/D489N, NA | c.[1900 T > A(;)c.1465G > A] | 1 | 0/1 | 1/1 | 1 (100) | 34 (34) | 1 (100) | 34 (34) | 1 (100) | 36 |
C634S/Q194H, trans | c.[1900 T > A(;)c.582G > C] | 1 | 1/1 | 2/2 | 2 (100) | 43 (39,47) | – | – | – | – |
C634R/P679P,NA | c.[1900 T > C(;)c.2037C > T] | 1 | 1/0 | 1/1 | 1 (100) | 23 (23) | 1 (100) | 34 (34) | – | – |
C634R/I803I, trans | c.[1900 T > C(;)c.2409C > T] | 1 | 1/1 | 2/2 | 2 (100) | 29.5 (27,32) | – | – | – | – |
C618R/A639T, cis | c. [1852 T > C(;).c.1915G > A] | 1 | 3/0 | 3/3 | 3 (100) | 26 (15,25,38) | – | – | – | – |
C618R/T278N, trans | c. [1852 T > C(;).c.833C > A] | 1 | 1/0 | 1/1 | 1 (100) | 36 (36) | – | – | – | – |
C618Y/R114H, trans | c.[1832G > A(;)c.341G > A] | 1 | 1/1 | 2/2 | 2 (100) | 32 (24,40) | – | – | – | – |
C618Y/A1105V, trans | c.[1832G > A(;)c.3314C > T] | 1 | 0/2 | 2/2 | 2 (100) | 53 (47,59) | – | – | – | – |
C618S/R114H, trans | c.[1852 T > A(;)c.341G > A] | 1 | 0/1 | 1/1 | 1 (100) | 12 (12) | – | – | – | – |
C620S/R114H,NA | c.[1859G > C(;)c.341G > A] | 1 | 0/1 | 1/1 | 1 (100) | 25 (25) | – | – | – | – |
L790F/K3K, trans | c.[2370G > T(;)c.9G > A] | 1 | 1/0 | 1/1 | 1 (100) | 63 (63) | – | – | – | – |
S891A/T278N, trans | c.[2671 T > G(;)c.833C > A] | 1 | 0/1 | 1/1 | 1 (100) | 44 (44) | – | – | – | – |
S891A/R525Wc, trans | c.[2671 T > G(;)c.1573C > T] | 1 | 1/1 | 2/2 | 2 (100) | 62 (58,66) | – | – | – | – |
S891A/A1068L, trans | c.[2671 T > G(;)c.3202_3203delGCinsTT] | 1 | 0/3 | 3/3 | 3 (100) | 32.7 (25,33,40) | – | – | – | – |
Total | 19 | 21d | 13/18 | 31/31 | 31 (100) | 33.5 (12 ~ 66) | 3 (9.7)e | 32.3 (29 ~ 34) | 2 (6.1) | 46.5 (36,57) f |