Table 2 Clinical features of the 23 Brazilian polyposis families
Age of onset | Extracolonic Manifestations | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Family ID | Affected codon | Polyposis burdena | Nb | Range | Mean | Gastric polyps | Duodenal polyps | Desmoid tumor(n) | Osteoma | Epidermoid cysts/lipoma | Other tumor sites |
1 - Attenuated FAP | APC | 35-56 | 46.3 | ||||||||
ID13 | 1789c | attenuated | 1 | 56 | 56 | yes | yes | no | no | NA | Uterus |
ID17 | Exon 1–3 dup | attenuated | 2 | 35-48 | 41.5 | yes | No | no | no | NA | Lung |
2 - Intermediate FAP | APC | 18-67 | 35.7 | ||||||||
ID02 | Exon 1–15 del | intermediate | 5 | 40-44 | 42 | yes | yes | no | no | NA | |
ID03 | 1450 | intermediate | 7 | 21-54 | 34.2 | yes | yes | yes (2) | no | NA | Liver; Hematologic |
ID04 | 287 | intermediate | 14 | 18-44 | 29.6 | no | no | no | no | NA | Bilateral breast; Stomach; BCC |
ID05 | 150 | intermediate | 18 | 29-67 | 40 | yes | yes | yes (3) | no | yes | Breast; Melanoma |
3 - Severe FAP | APC | 7-58 | 29.2 | ||||||||
ID01 | 302 | profuse | 5 | 14-27 | 23.6 | yes | no | no | no | NA | Brain |
ID06 | 1294 | profuse | 11 | 20-35 | 27.7 | yes | yes | yes (1) | yes | yes | |
ID07 | 283 | profuse | 8 | 27-58 | 37 | yes | no | yes (2) | yes | yes | Liver |
ID08 | 1367 | profuse | 3 | 15-55 | 35 | yes | yes | yes (1) | yes | NA | |
ID10 | 1017 | profuse | 15 | 7-55 | 28.1 | no | no | yes (4) | yes | yes | Thyroid |
ID11 | 1309 | profuse | 3 | 30-40 | 35 | yes | yes | no | yes | NA | |
ID14 | 1465 | profuse | 8 | 17-36 | 26.5 | no | no | yes (2) | no | yes | |
ID21 | 1309 | profuse | 1 | 18 | 18 | yes | yes | no | yes | no | |
ID23 | 1367 | profuse | 1 | 22 | 22 | NA | NA | yes(1) | NA | NA | |
4 - MAP | MUTYH | 27-53 | 37.9 | ||||||||
ID15 | Exon 4–16 del | attenuated | 2 | 42-44 | 43 | no | no | no | no | NA | |
ID16 | 179; 385 | attenuated | 2 | 30-53 | 41.5 | yes | no | no | no | NA | Uterus |
ID18 | 130; 179 | attenuated | 1 | 45 | 45 | no | no | no | no | NA | |
ID19 | 241; 241 | attenuated | 2 | 27-31 | 29 | no | no | no | no | NA | |
ID24 | 396;[=] | intermediate | 1 | 55 | 55 | NA | NA | no | NA | NA | |
ID447 | 179; 410 | attenuated | 2 | 34-35 | 34.5 | no | no | no | no | no | |
5 - No Mutation | 26-29 | 27.5 | |||||||||
ID20 | attenuated | 1 | 26 | 26 | no | no | no | yes | no | ||
ID22 | intermediate | 1 | 29 | 29 | no | no | no | no | no | ||