Table 1.
Phenotypic features and germline mutations identified in APC-positive patients.
| Patient ID | Onset age | Number of Adenomas | CRC | ED | Family history (age at diagnosis) | Mutation | Exon | Ref |
| GAL-27 | 42 | >100 | No | No | Father: CRC(36) Grandmother: CRC(60) | c.(?_30)_(*220_?)del | Whole allele | [11] |
| GAL-16 | 23 | 100 | No | DT OST | NA | c.(?_30)_(*220_?)del | Whole allele | [11] |
| GAL-14 | 20 | >100 | No | ? | No | c. 1-?_8532+?del | 1 to 15 | [12] |
| GAL-07 | 50 | 15 | No | No | Affected mother (?) | c.147-150delACAA (p.Lys49AsnfsX20) | 2 | This study |
| GAL-15 | 33 | >100 | No | ? | No | c.423-?_531+?del | 4 | [5] |
| GAL-11 | 41 | >100 | Yes | No | Father: CRC (?) | c.646C>T (p.Arg216X) | 6 | [13] |
| GAL-26 | 15 | >100 | No | No | Father: FAP+CRC (47) | c.646 C>T (p.Arg216X) | 6 | [13] |
| GAL-09 | 33 | 12 | No | No | No | c.994C>T (p.Arg332X) | 9 | [5] |
| GAL-10 | 64 | 50 | Yes | No | Mother: CRC (68) Aunt: CRC (60) | c.1072C>T (p.Gln358X) | 9 | [14] |
| GAL-19 | NA | 20–50 | No | No | Mother: CRC (46) | c.1402 G>T (p.Glu468X) | 10 | This study |
| GAL-13 | 20 | >100 | Yes | No | No | c.1620_1621dupA (p.Gln541ThrfsX19) | 12 | [15] |
| GAL-18 | 33 | >50 | No | No | Father: CRC (42) | c.1682dupA (p.Thr562AsnfsX19) | 13 | [10] |
| GAL-02 | 30 | 0 | No | PC | No | c.1756 A>T (p.Lys586X) | 14 | [16] |
| GAL-01 | 23 | <100 | No | No | Brother: FAP (20s) | c.2413C>T (p.Arg805X) | 15 | [17] |
| GAL-17 | 41 | 100 | Yes | OST | Father CRC (45), Sister CRC (34) | c.2900delT (p.Val967AlafsX13) | 15 | This study |
| GAL-12 | 34 | <100 | No | No | Father: CRC (40s) Uncle: CRC (40s) Grandfather: CRC(40s) | c.3467_3470delAAGA (p.Glu1156GlyfsX8) | 15 | [18] |
| GAL-24 | 52 | >100 | No | CHRPE | No | c.3927_3931delAAAGA (p.Glu1309AspfsX4) | 15 | [18] |
| GAL-04 | 60 | >100 | Yes | Others | No | c.4033G>T (p.Glu1345X) | 15 | [19] |
| GAL-25 | 43 | >100 | Yes | No | NA | c.4219-4220delAG p.Ser1407XfsX1 | 15 | This study |
| CAT-12 | 21 | >100 | No | No | Mother: FAP+ CRC (49) Sister: FAP (31) | c.(?_30)_(*220_?)del | Whole allele | [11] |
| CAT-13 | 20 | 20–50 | No | No | Father: FAP (?) Brother: FAP (?) | c.423-?_531+?del | 4 | [5] |
| CAT-01 | 46 | 100 | Yes | No | Brother: CRC+FAP(53) Brother: CRC+FAP(59) | c.994C>T (p.Arg332X) | 9 | [5] |
| CAT-02 | 32 | >100 | No | DP | No | c.2934_2935delAA (p.Gln978HisfsX6) | 15 | This study |
| CAT-03 | 38 | 40–60 | No | DT | Father: CRC (46) Brother: FAP | c.3183_3187delACAAA (p.Lys1061LysfsX2) | 15 | [18] |
| CAT-04 | 20 | >100 | No | No | Mother: FAP + CRC (?) Cousin: CRC (52) | c.3183_3187delACAAA (p.Lys1061LysfsX2) | 15 | [18] |
| CAT-05 | 39 | >100 | No | DT | Sister: FAP (41) | c.3183_3187delACAAA (p.Lys1061LysfsX2) | 15 | [18] |
| CAT-06 | 38 | >100 | Yes | No | Brother: FAP Father: FAP + CRC (?) | c.3329C>A (p.Ser1110X) | 15 | This study |
| CAT-07 | NA | NA | NA | NA | NA | c.3329C>A (p.Ser1110X) | 15 | This study |
| CAT-08 | 27 | >100 | No | No | Brother: FAP (29) Father: FAP (41) Grandmother: FAP(30) | c.3531delT (p.Ile1177MetfsX5) | 15 | This study |
| CAT-09 | NA | NA | NA | DP | NA | c.3631_3632delAT (p.Met1211ValfsX5) | 15 | [20] |
| CAT-10 | 17 | >100 | No | FGP | Father: FAP (39) Uncle: FAP + CRC (?) | c.3927_3931delAAAGA (p.Glu1309AspfsX4) | 15 | [18] |
| CAT-11 | 32 | >100 | No | FGP | Father: FAP (39) Uncle FAP + CRC(63). Aunt: FAP+ CRC(55) Grandmother: FAP+CRC(39) |
c.3927_3931delAAAGA (p.Glu1309AspfsX4) | 15 | [18] |
ED: extracolonic disease; DT: desmoid tumor; OST: osteomas; NA: not available; PC: papillary carcinoma; CHRPE: congenital hypertrophy of the retinal pigmented epitelium; Others: Ovarian tumor and suprarenal adenoma; DP: duodenal polyps; FGP: fundic gland polyps.