Patient | Age (years) | Stage | Gene | Variant | Pathogenicity | Sanger sequencing | LS/sporadic CRCs | MMR IHC | MSI |
---|---|---|---|---|---|---|---|---|---|
P1 | 62 | III | MLH1 | c.1641dupA:p.Y548Ifs*9 | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P6 | 51 | II | MLH1 | c.304G>T:p.E102* | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P8 | 41 | III | MLH1 | c.1852_1854delAAG:p.K618delK | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P17 | 64 | II | MLH1 | c.1929_1938delTGACAACTAT:p.I643Mfs*15 | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P20 | 42 | II | MLH1 | c.1631_1634delAAAC:p.Q544Pfs*46 | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P23 | 49 | II | MSH6 | c.2104dupT:p.S702Ffs*4 | Pathogenic | MSH6 | LS | dMMR | MSI-H |
P33 | 55 | II | MSH6 | c.1250delA:p.K417Sfs*36 | Pathogenic | MSH6 | LS | dMMR | MSI-H |
P43 | 57 | III | MSH6 | c.1280delA:p.Y427Sfs*26 | Pathogenic | MSH6 | LS | dMMR | MSI-H |
P48 | 65 | II | MSH2 | c.2251G>T:p.Gly751* | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P52 | 64 | II | MSH6 | c.855_858delTGAG:p.S285Rfs*5 | Pathogenic | MSH6 | LS | dMMR | MSI-H |
P56 | 26 | II | MLH1 | c.2107G>T:p.E703* | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P72 | 56 | II | MSH2 | c.1978delG:p.D660Ifs*25 | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P82 | 56 | II | MSH2 | c.505delA:p.I169Yfs*5 | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P86 | 51 | III | MLH1 | c.753delC:p.S252Qfs*2 | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P91 | 52 | II | MSH2 | c.1981A>T:p.K661* | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P119 | 46 | I | MSH2 | c.1472delA:p.K491Rfs*6 | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P124 | 48 | II | MLH1 | c.1852_1854delAAG:p.K618delK | Pathogenic | MLH1 | LS | dMMR | MSI-H |
P142 | 46 | II | MSH6 | c.3646G>T:p.Gly1216* | Pathogenic | MSH6 | LS | dMMR | MSI-H |
P143 | 45 | I | MSH2 | c.2588_2601del14:p.Y863Sfs*14 | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P152 | 59 | II | MSH2 | c.273dupT:p.L92Sfs*8 | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P152 | 59 | II | MSH2 | c.516delA:p.K172Nfs*2 | Pathogenic | MSH2 | LS | dMMR | MSI-H |
P154 | 54 | II | MSH2 | c.643_644insG:p.Q215Rfs*17 | Pathogenic | MSH2 | LS | dMMR | MSI-H |
MMR, mismatch repair; dMMR, deficient MMR; pMMR, proficient MMR; WT, wildtype; MSI, microsatellite instability; MSI-H, MSI-high; MSI-L, MSI-low.