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Table 4 Results of somatic mutation analysis and IHC analysis

From: Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

Tumour
nr
APC (MCR)
mutation*
KRAS
mutation
p53
IHC†
p53 mutation* 17P
LOH @
Beta-catenin
IHC††
SMAD4 mutation* MSI c 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 +
  1. 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.