Table 1.
Clinical and molecular characteristics of patients with mutations
| Patients with APC mutations | |||||||
|---|---|---|---|---|---|---|---|
| Casea | Age at diagnosis | Phenotype | Family History (transmission) | Additional informations | APC Mutation | Exon | Effect |
| GD22 | 45 | FAP | yes (vertical) | osteomas, desmoids, duodenal cancer | c.646-1 G > Ab | 7 | Criptic splice site fsX292 |
| GD23 | n.a. | FAP | yes | c.4666dupb | 16 | p.Thr1556_AsnfsX1558 | |
| GD31 | 72 | FAP | yes (vertical) | >1000 polyps, colon cancer | c.3183_3187delb | 16 | p.Lys1061_LysfsX1062 |
| GD33 | n.a | FAP | yes (vertical) | c.904 C > Tb | 9 | p.Arg302X | |
| GD37 | 41 | AFAP | yes (vertical) | ileal polyps, colon cancer, | c.1176_1177insTb | 10 | p.His393_PhefsX396 |
| GD38 | 35 | FAP | yes (vertical) | CHRPE, osteomas | c.4717 G > Tb | 16 | p.Glu1573X |
| GD41 | 24 | FAP | yes (vertical) | gastric and ileal polyps | c.2684 C > Ab | 16 | p.Ser895X |
| GD48 | 33 | FAP | yes (vertical) | duodenal polyps | c.2758_2759delb | 16 | p.Asp920_CysfsX922 |
| GD57 | 22 | FAP | no | c.2299 C > Tb | 16 | p.Gln767X | |
| GD58 | 48 | FAP | no | c.4393_4394delb | 16 | p.Ser1465_TrpfsX1467 | |
| GD59 | 31 | FAP | yes (vertical) | c.4192_4193delb | 16 | p.Ser1398_SerfsX1407 | |
| GD74 | 27 | FAP | yes (vertical) | >100 polyps, desmoids, colon cancer | ex15del | 15 | ∆ 15 |
| GD103 | 55 | FAP | no | c.694 C > Tb | 7 | p.Arg232X | |
| GD119 | 26 | FAP | yes (vertical) | duodenal polyps, rectal cancer | c.2633delT | 16 | p.Leu878_CysfsX916 |
| ᅟ | ᅟ | ᅟ | ᅟ | ᅟ | ᅟ | ᅟ | ᅟ |
| Patients with MUTYH mutations | |||||||
| Casea | Age at diagnosis | Phenotype | Family History (transmission) | Additional informations | MUTYH Mutation | Exon | Effect |
| GD68 | 45 | AFAP | no | 40 polyps | [c.536A > G]+ | 7, 12 | [p.Tyr179Cys]+ |
| [c.1163 T > C]b | [p.Leu388Pro] | ||||||
| GD72 | 29 | FAP | yes (vertical) | [c.536A > G] + [c.=]b | 7 | [p.Tyr179Cys] + [p.=] | |
| GD82#1 | 49 | Multiple polyposis | yes (horizontal) | caecum cancer | [c.536A > G]+ | 7, 10 | [p.Tyr179Cys]+ |
| [c.820C > T]b | [p.Arg274Trp] | ||||||
| GD82#2 | 54 | Colon cancer | yes (horizontal) | [c.536A > G]+ | 7, 10 | [p.Tyr179Cys]+ | |
| [c.820C > T] | [p.Arg274Trp] | ||||||
| GD91 | 30 | Multiple polyposis | no | 100 polyps | [c.1145del]+ | 12 | [p.Ala382AlafsX407]+ |
| [c.1145del]b | |||||||
| [p.Ala382AlafsX407] | |||||||
| GD155 | 70 | AFAP | no | [c.536A > G] + [c.=] | 7 | [p.Tyr179Cys] + [p.=] | |
aIdentification number is followed by number of individual if several members were investigated per family
bData from [24]
n.a. = not available