Table 2 Phenotypic characteristics and germlime mutations identified in biallelic MUTYH carriers.
Patient ID | Onset age | Number of adenomas | CRC | ED | Family History (age at diagnosis) | MUTYH | Ref. | |
|---|---|---|---|---|---|---|---|---|
1st Mutation | 2nd mutation | |||||||
GAL-08 | 43 | 25–30 | Yes | No | No | c.494A>G (p.Tyr165Cys) | c.494A>G (p.Tyr165Cys) | [7] |
GAL-21 | 52 | <100 | No | No | No | c.494A>G (p.Tyr165Cys) | c.1145 G>A (p.Gly382Asp) | [7] |
GAL-22 | NA | 40–60 | No | No | Two siblings and mother: CRC (50s) | c.494A>G (p.Tyr165Cys) | c.1145 G>A (p.Gly382Asp) | [7] |
GAL-05 | 58 | <100 | Yes | No | NA | c.494A>G (p.Tyr165Cys) | c.1145 G>A (p.Gly382Asp) | [7] |
GAL-06 | NA | 40–100 | No | No | Sister: AFAP (?) | c.494A>G (p.Tyr165Cys) | c.1145 G>A (p.Gly382Asp) | [7] |
GAL-20 | 45 | <100 | No | No | Two siblings: AFAP+CRC (?) | c.1131 C>T (p.Gln377X) | c.1145 G>A (p.Gly382Asp) | |
GAL-03 | 44 | 31–100 | Yes | No | No | c.1145 G>A (p.Gly382Asp) | c.1145 G>A (p.Gly382Asp) | [7] |
GAL-23 | 62 | >30 | Yes | No | No | c.1186_1187insGG p.Glu396GlyfsX43 | c.1186_1187insGG p.Glu396GlyfsX43 | [22] |
CAT-15 | 44 | 5 | Yes | No | Mother: BC(66) Brother:2 CRC (46) | c.494A>G (p.Tyr165Cys) | c.1103delC (p.Ala369AlafsX26) | |
CAT-14 | 38 | 15–30 | No | No | Father: CRC (?) | c.494A>G (p.Tyr165Cys) | c.1145 G>A (p.Gly382Asp) | [7] |
CAT-17 | 60 | >20 | Yes | No | NA | c.1145G>A (p.Gly382Asp) | c.1145G>A (p.Gly382Asp) | [7] |
CAT-16 | 45 | 40–50 | No | No | Father: CRC (40) | c.1145G>A (p.Gly382Asp) | c.1145G>A (p.Gly382Asp) | [7] |
CAT-18 | 45 | 70 | Yes | No | No | c.1186_1187insGG (p.Glu396GlyfsX43) | c.1186_1187insGG (p.Glu396GlyfsX43) | [22] |
CAT-19 | 69 | 0 | Yes | BC (59) | Cousin: CRC (40) | c.1186_1187insGG p.Glu396GlyfsX43 | c.1186_1187insGG p.Glu396GlyfsX43 | [22] |