Table 1.
Features of the 12 APC patients.
| HB ID | Age (mths) | Sex | FAP discovery mode | FAP anteriority | gDNA change (GRCh37, chr5) |
Protein change |
|---|---|---|---|---|---|---|
| #2967 | 40 | M | FAP Familial follow-up | Familial FAP | 112116511del | p.R186Efs*19 |
| #4068 | 10 | F | Colonic polyposis later discovered on mother | Familial FAP | 112116592C>T | p.R213* |
| #3519 | 56 | M | FAP Familial follow-up | Familial FAP | 112137070del | p.G275Vfs*18 |
| #3970 | 14 | M | FAP Familial follow-up | Familial FAP | 112154999del | p.Q424Rfs*30 |
| #4065 | 25 | M | FAP Familial follow-up | Familial FAP | 112162883_112162912delinsTGCTGT | p.T496Mfs*36 |
| #4066 | 11 | M | Colonic polyposis later discovered on mother | Mother de novo | 112162945G>A | Splice site (517) |
| #4070 | 21 | M | FAP Familial follow-up | Familial FAP | 112163618A>C | Splice site (517) |
| #4069 | 32 | F | FAP Familial follow-up | Familial FAP | 112170863G>T | Splice site (653) |
| #3547 | 17 | M | Genetic test APC screening | de novo | 112173838_112173841del | p.D849Efs*11 |
| #4072 | 28 | M | CHRPE | Father de novo | 112173838_112173841del | p.D849Efs*11 |
| #4071 | 17 | M | FAP Familial follow-up | Familial FAP | 112174249T>A | p.Y986* |
| #4067 | 19 | M | Genetic test APC screening | de novo | 112174474_112174478del | p.Q1062* |
CHRPE: Congenital hypertrophy of the retinal pigment epithelium.