Table 3

Founder mutatations in HNPCC

GeneMutationPopulation and approximate proportion of all HNPCC in that populationReference
MLH1 Del exon 16Finns50% 45
MLH1 Splice acceptor exon 6 (del exon 6)Finns15% 46
MLH1 Ile→Arg, codon 320, exon 4Finns10% 46
MLH1 Splice donor exon 14 (breakdown of transcription)Danes25% 84
MSH2 943+3 A→T, splice donor exon 5 (del exon 5)Newfoundlanders50% 114