Table 1.
Patients | Gender | Age at diagnosis (years) |
CRC |
MLH1 | SPTAN1 | ||
---|---|---|---|---|---|---|---|
Sporadic MLH1+ | Sporadic MLH1-(BRAF V600E) | Lynch syndrome MLH1 mutation | |||||
Paraffin embedded tissue |
|
|
|
|
|
|
|
1. |
m |
63 |
x |
- |
- |
+++ |
+++ |
2. |
m |
71 |
x |
- |
- |
+++ |
+++ |
3. |
m |
46 |
x |
- |
- |
++ |
++ |
4. |
m |
68 |
- |
x |
- |
- |
+ |
5. |
m |
50 |
- |
x |
- |
- |
+ |
6. |
f |
67 |
- |
x |
- |
- |
+ |
7. |
m |
49 |
- |
x |
- |
- |
+ |
8. |
m |
49 |
- |
- |
c.275_278delCCAG |
- |
+ |
(p.Ala92ValfsX15) | |||||||
9. |
m |
57 |
- |
- |
c.1731G>A |
- |
+ |
(p.Ser577Ser) | |||||||
10. |
m |
49 |
- |
- |
c.676C>T |
- |
+ |
(p.Arg226X) | |||||||
11. |
f |
44 |
- |
- |
c.583A>T |
- |
+ |
(p.Lys195X) | |||||||
Fresh tissue | |||||||
12. (N) |
m | 80 | - |
- |
- |
++ |
+++ |
12. (T) | - | x | - | - | + |
-: deficiency; ++: moderate expression; +++: strong expression; +: weak expression; N: tumour surrounding tissue; T: tumour tissue.