Table 2 Genetic characteristics
References | Case | CTNNB1 Mutation | APC Mutation | Comorbid FAP | Follow up time (m) |
|---|---|---|---|---|---|
Maeda et al. [5] | 1 | c.98C > G p.S33C | NK | NK | 14 |
2 | c.98C > G p.S33C | NK | NK | 4 | |
Irving et al. [3] | 3 | c. 95A > T, p.D32V | – | NK | NK |
4 | c. 104 T > G, p.I35S | – | NK | NK | |
5 | c. 95A > T, p.D32V | – | NK | NK | |
6 | c.110C > G, p.S37C | – | NK | NK | |
7 | c. 109 T > C, p.S37P | – | NK | NK | |
8 | c. 110C > G, p.S37C c. 95A > T, p.D32V | – | NK | NK | |
9 | c. 101G > A, p.G34E | – | NK | NK | |
10 | c. 95A > T,p.D32V | NK | |||
11 | – | c. 1620_1621insA, p.Q541Tfs*19 | NK | NK | |
12 | c.98C > G, p.S33C | – | NK | ||
13 | – | – | NK | ||
14 | c. 101G > A, p.G34E | – | NK | ||
15 | – | c.1257delC, p.T419fs c.1449 T > A, p.C483* | NK | ||
16 | NK | NK | NK | ||
17 | – | – | NK | ||
M Yang et al. [11] | 18 | NK | NK | NK | NK |
Y N et al. [7] | 19 | c.97 T > C p.S33P | NK | NK | NK |
S H Lee et al. [13] | 20 | – | c.2376_2378delGCAinsCC, (p.lys792Asnfs*28). c.3796G > A, p.D1266N c.1540delG, (p.Ala514 Profs*9). | Y | NK |
Bi et al. [6] | 21 | c.122C > T p.T41I | NK | NK | 60 |
22 | Wild-type | NK | NK | 18 | |
23 | c.110C > G p.S37C | NK | NK | 7 | |
24 | c.101G > A p.G34E | NK | NK | NK | |
25 | c.97 T > C P.S33P, | NK | NK | 59 | |
26 | Wild-type | NK | NK | 2 | |
Podduturi et al. [10] | 27 | c.101 G > A, p.G34E | NK | NK | NK |
J H Lee et al. [9] | 28 | c.98C > G; p.S33C | NK | NK | NK |
29 | c.98C > G; p.S33C | NK | NK | NK | |
K Na et al. [8] | 30 | c.122C > T p.T41I | NK | NK | 57 |
31 | c.88_99delTACCTGGACTCT p.Y30_S33del | NK | NK | 20 | |
W G McCluggage et al. [12] | 32 | c.100G > A,p.G34R | NK | NK | NK |
33 | c.98C > G,p.S33C | NK | NK | NK | |
34 | wid-type | NK | NK | NK | |
35 | c.97 T > G,pS33A | NK | NK | NK | |
C Liu et al. [14] | 36 | – | Intron 6,c.730-1G > T | Y | NK |
Y. Zhang et al. [2] | 37 | – | c.1590C > T, p.G530E | Y | 108 |
Man et al. (this case) | 38 | c.98C > G,p.S33C | – | N | 19 |