Table 3 Detected MSH2 mutations, clinical details and results of MSI and IHC analyses
clinical criteria | colon cancer total | colon cancer average | MS status age | loss MLH1 expression | loss MSH2 expression | mutation type | pathogenic | MSH2 mutation |
|---|---|---|---|---|---|---|---|---|
A | 2 | 47 | ND | ND | ND | stop | yes | 1072G>T |
A | 4 | 46 | ND | ND | ND | frameshift | yes | 1578delC |
A | 3 | 53 | ND | ND | ND | frameshift | yes | 1577delC |
A | 3 | 46 | MSI | ND | ND | frameshift | yes | 2502-2508 del |
A | 3 | 40 | ND | ND | ND | frameshift | yes | 1059delG |
A | 3 | 46 | ND | ND | ND | frameshift | yes | 1986delAG |
A | 3 | 45 | ND | ND | ND | splice site mutation | yes | 942+3A>T |
A | 6 | 38 | MSS | No | Yes | splice site mutation | yes | 942+3A>T |
A | 8 | 45 | ND | ND | ND | stop | yes | 1165C>T |
A | 3 | 44 | ND | ND | ND | frameshift | yes | 2481delG |
A | 3 | 36 | ND | ND | ND | stop | yes | 351G>A |
A | 2 | 40 | ND | ND | ND | frameshift | yes | 526delC |
A | 3 | 50 | ND | ND | ND | large deletion | yes | exon 1del |
A | 3 | 49 | MSS | No | Yes | lge del | yes | Exons 1-2del |
A | 3 | 57 | ND | ND | ND | missense | NK | 1760-62G>A |
A | 4 | 44 | MSI | No | Yes | frameshift | yes | 1218insTACCG |
A | 3 | 38 | MSS | No | Yes | lge del | yes | Exons 9-16del |
A | 3 | 36 | MSI | No | Yes | lge del | yes | Exons 4-16del |
A | 8 | 46 | MSS | No | Yes | frameshift | yes | 924delAG |
A2 | 3 | 57 | MSI | No | Yes | frameshift | yes | 680-716 dup |
A2 | 2 | 56 | MSS | No | No | missense | polymorphism | 965G>A |
A2 | 2 | 47 | ND | ND | ND | stop | yes | 1072G>T |
B1-3 | 2 | 23 | MSI | No | Yes | lge del | yes | Exons 9-16del |
B1-3 | 1 | 43 | MSI | No | Yes | missense | NK | 817G>A & 818T>A |
B1-3 | 2 | 47 | MSS | No | No | missense | polymorphism | 2006-6T>C |
B4-7 | 1 | 26 | ND | ND | ND | stop | yes | 1609A>T |
B4-7 | 1 | 41 | MSS | No | Yes | large deletion | yes | Exons 1-8del |
MA | 3 | 45 | ND | ND | ND | frameshift | yes | 2501-2507 del |
MA | 2 | 52 | ND | ND | ND | nonsense | yes | 2038C>T |
MA | 4 | 51 | ND | ND | ND | splice | yes | 943-1G>A |
MA | 3 | 70 | ND | ND | ND | frameshift | yes | 2634insT + delGGTTTGTCAG |
MA | 2 | 42 | ND | No | Yes | lge del | yes | Exons4-16del |
MA | 2 | 47 | ND | ND | ND | splice mutation | yes | 942+3A>T |