Table 4.
Tumour nr |
APC (MCR) mutation* |
KRAS mutation |
p53 IHC† |
p53 mutation* |
17P LOH@ |
Beta-catenin IHC†† |
SMAD4 mutation* | MSIc |
MLH1-PMS2 IHC** |
---|---|---|---|---|---|---|---|---|---|
1 | no | c.34G>T | ++ | No | yes | 0 | c.227G>GT, p.R76RI | S | + |
2 | no | c.34G>T | +++ | c.758C>CT, p.T253TI* | yes | 0 | no | S | + |
3 | no | no | +++ | yes | 0 | S | + | ||
4 | no | c.34G>T | + | no | 0 | c.1058A>AG, p.Y353YC* c.1096C>CT, p.Q366QX | S | + | |
5 | no | c.34G>T | + | c.593A>AT, p.E198EV | no | 0 | c.161T>TC, p.L54LS c.740G>GA, p.G247GE c.1597C>CT, p.L533LF |
S | + |
7 | c.3949G>GT p. E1317EX* c.4339C>CT p. Q1447QX* |
no | + | c.565G>GA, p.A189AT* c.599A>AG, p.N200NS* | yes | 0/+ | no | S | + |
8 | no | c.34G>T | + | c.446C>CT, p.S149SF* | no | 0 | no | S | + |
11 | no | no | 0 | 0 | S | + | |||
12 | no | no | + | 0 | S | + | |||
13 | no | c.34G>T | 0 | +/++ | L~ | heterogenous | |||
14 | no | no | No | no | no | S | + | ||
16 | no | c.34G>T | + | c.446C>CT, p.S149SF* | no | + | c.115G>GA, p.A39AT c.74G>GA, p.C25CY | S | + |
17 | no | c.34G>T | +++ | no | 0 | c.1609G>GT, p.D537DY* | + | ||
18 | no | no | + | 0 | S | ||||
20 | no | c.34G>T | + | 0/+ | S | + | |||
21 | c.4222G>GT p.E1408EX* |
no | + | 0 | S | + | |||
22 | c.4222G>GT p.E1408EX* |
no | + | c.13791G>GT, p.E271EX* |
yes | 0/+ | no | S | + |
23 | no | c.34G>T | ++ | c.596G>GT, p.G199GV* | yes | 0 | no | S | + |
24 | no | c.34G>T | ++ | c.820G>GT, p.V274VF* | yes | 0 | S | + | |
28 | no | c.34G>T | + | No | 0 | no | S | + | |
29 | no | c.34G>T | 0 | yes | 0/+ | no | S | + | |
30 | no | c.34G>T | + | 0/+ | S | + | |||
31 | c.4085C>CT p.S1362SF |
no | + | ++ | S | + | |||
32 | no | no | +++ | no | + | no | S | ||
33 | no | c.34G>T | ++ | 0/+ | S | ||||
34 | no | no | +++ | No | yes | 0 | no | S | + |
35 | no | c.34G>T | + | No | no | 0 | S | + | |
36 | c.4381G>GT p.E1461EX |
c.34G>T | + | no | 0/+ | no | S | + | |
37 | no | c.34G>T | + | yes | 0 | S | |||
38 | no | no | + | no | 0/+ | S | + | ||
39 | no | c.34G>T | + | 0 | S | + | |||
40 | no | c.34G>T | + | 0 | S | + | |||
41 | no | no | ++ | c.13794G>GA, p.V272VM* |
yes | 0 | no | S | + |
42 | no | c.34G>A | ++ | 0 | no | S | + | ||
43 | no | c.34G>T | + | no | yes | 0 | no | S | + |
44 | no | c.34G>T | ++ | 0/+ | S | + |
Blank cells: not done/not ascertainable, † 0 = none, + = >0<25%, ++ = 25–75%, +++>75%, *previously reported mutations, see http://www.sanger.ac.uk/genetics/CGP/cosmic/ (SMAD4) and http://p53.free.fr/index.html (P53), @LOH, as reported by Middeldorp et al (mainly copy neutral LOH and not physical loss),8 †† 0= category 1(membranous staining), 0/+ = 2A (membranous and some nuclear staining), + = 2B (membranous & increased nuclear staining), ++ = 3 (strong nuclear & less or no membranous staining), ~2/9 markers unstable.