Table 2 Germline mutations detected in either of the MMR genes.
Family ID | Gene | Location | Nucleotide change | Protein effect | Method used |
|---|---|---|---|---|---|
F1376 | MLH1 | Exon 1 | c.116+5G > C | c.116_117ins227nt | Sequencing |
F656 | MLH1 | Exon 1 | c.116+5G > C | c.116_117ins227nt | Sequencing |
F263 | MLH1 | Exon 6 | deletion of exon 6 | p.Glu153[33]fsX8 | MLPA/long range PCR |
F33 | MLH1 | Intron 9 | c.790+1G > A | skipping of exons 9 and 10 | Sequencing |
F41 | MLH1 | Intron 9 | c.790+1G > A | skipping of exons 9 and 10 | Sequencing |
F74 | MSH2 | Exon 5 | c.940C > T | p.Gln314X | Sequencing |
F84 | MSH2 | Exon 7 | c.1237C > T | p.Gln413X | Sequencing |
F68 | MSH2 | Exon 7 | c.1276G > C | partial skipping of exon 8 | Sequencing |
F1278 | MSH2 | Exon 13 | c.2089T > C | p.Cys697Arg | Sequencing |
F39 | MSH2 | Exon 13 | c.2131C > T | p.Arg711X | Sequencing |
1SRB | MSH2 | Exon 13 | c.2132G > C | p.Arg711Pro | Sequencing |
F150 | MSH6 | Exon 5 | c.3202 C > T | p.Arg1068X | Sequencing |
F111 | MSH2 | Exon 12 | possible duplication of exon 12 | ? | MLPA |