Hereditary non-polyposis colorectal cancer (HNPCC) suspected families with mutation in hMLH1 or hMSH2
| Category | Patient No | Family No | Gene | Exon | Base change | Base No | Codon | AA change | MSI | Comment |
|---|---|---|---|---|---|---|---|---|---|---|
| *Category 6, proband at age 40 years or younger with at least one CRC among family members; category 7, both proband and one first degree relative with CRC <55 years. | ||||||||||
| MSI, microsatellite instability; MSI-H, high microsatellite instability; MSI-L, low microsatellite instability; MS-S, stable microsatellites; CRC, colorectal cancer. | ||||||||||
| 1 | 1 | 1 | MLH1 | 11 | Del G | 1046 | 349 | Frameshift | MSI-H | Stop codon 380 |
| Amsterdam | 2 | 1 | MLH1 | 11 | Del G | 1046 | 349 | Frameshift | MSI-H | Stop codon 380 |
| criteria I | 3 | 2 | MLH1 | 16 | Del AAG | 1846–8 | 616 | Del Lys | MSI-H | Pathogenic, see text |
| 4 | 3 | MSH2 | 12 | Del AAT | 1786–8 | 596 | Del Asn | MSI-H | Pathogenic, see text | |
| 5 | 4 | MSH2 | 11 | T>A | 2 bases downstream | — | Splice mutation | MSI-H | Pathogenic, see text | |
| 2 | 12 | 11 | MLH1 | 1 | C>T | 76 | 26 | Gln>stop | MSI-H | Stop codon |
| Amsterdam | 13 | 12 | MSH2 | 12 | Del AAT | 1786–8 | 596 | Del Asn | MSI-H | Pathogenic, see text |
| criteria II | 16 | 4 | MSH2 | 11 | T>A | 2 bases downstream | — | Splice mutation | MSI-H | Pathogenic, see text |
| 6* | 37 | 34 | MSH2 | 12 | Del AAT | 1786–8 | 596 | Del Asn | MSI-H | Pathogenic, see text |
| 7* | 42 | 39 | MSH2 | 12 | Del AAT | 1786–8 | 596 | Del Asn | MSI-H | Pathogenic, see text |