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 | ||
a Polyposis burden of the index case. The remaining columns are based on all affective relatives with available clinical information; b N = number of clinically affected family members; BCC = basal cell carcinoma; NA = data not available; c Variant of unknown clinical significance.