Table 1
Pathogenic germline hMLH1 and hMSH2 mutations identified in high MSI tumours
Gene and patient
Exon
Nucleotide change
Consequence
Reference
hMLH1
OG/98-2989
2
199 G→A
G67R
31
OG/97-4266
15
1684 C→T
Q562X
This study
OG/97-3941
17
1964 T→C
I655T
32
hMSH2
OG/97-2426
3
561 del TGAGGCTCT
In frame del of codons 188-190
33