Table 1

Pathogenic germline hMLH1 and hMSH2 mutations identified in high MSI tumours

Gene and patient Exon Nucleotide change Consequence Reference
hMLH1
OG/98-29892199 G→AG67R 31
OG/97-4266151684 C→TQ562XThis study
OG/97-3941171964 T→CI655T 32
hMSH2
OG/97-24263561 del TGAGGCTCTIn frame del of codons 188-190 33