Table 1.
Summary of genotypes and phenotypes
| Family number | APC gene mutation | Consequence | Type colonic polyposis (A, P, C) | Colonic adenoma age | Duodenal adenoma age | Gastric adenoma age | Other tumor type and location, Age | Family origin |
| A43/M | c.824delA | p.N276fs | C | 32 | - | - | adenoma, ureter/32 | Sweden |
| A8/F | c.1120G>T | p.S373X | C | 14 | 31 | 32 | - | Sweden |
| A19/M | c.1409-1G>A | intron 10 splice site | C | 28 | 31 | 32 | - | Sweden |
| A46-1/F | c.1582_1583insGC | p.A529fs | C | 13 | 27 | 27 | papillary cancer, thyroid/19 | Sweden |
| A46-2/F | c.1582_1583insGC | p.A529fs | C | 18 | 38 | 40 | papillary cancer, thyroid/28 | Sweden |
| A29/M | c.1690C>T | p.R564X | C | 42 | - | - | - | Sweden |
| A34/F | c.1958G>T | exon 15 splice site | P | 44 | 44 | - | colon cancer/45 | Gambia |
| A26/F | c.3921_3925delAAAAC | p.I1307fs | C | 22 | 40 | 47 | - | Sweden |
| A37/M | del exon 1–15 | c.1-?_8532+?del | C | 22 | 24 | 26 | - | Sweden |
| A40/M | del exon 1–15 | c.1-?_8532+?del | C | 42 | 48 | - | adenomyoma, gall bladder/44 | Macedonia |
| A47/M | c.4348C>T | p.R1450X | C | 20 | - | - | desmoid tumor, retroperitoneum/20 | Iceland |
| A30/F | c.5030_5031insAA | p.G1784fs | A | 72 | 73 | 73 | osteoma/NA three synchronous colon cancers/72 | Sweden |
| desmoid tumor, abdominal wall/73 | ||||||||
| osteoma/73 adenocarcinoma, small intestine/74 |
A: attenuated FAP, P: profuse FAP, C: classical FAP
NA: not available