Table 1 Germline APC mutations and clinical phenotypes identified in 8 Japanese (A)FAP patients
Patient ID | Germline APC mutation1(Exon2) | Consequence | Reference3 | FAP type (age4) | Number5of colorectal polyps | Colorectal cancer (age) | Extracolonic manifestation (age4) |
|---|---|---|---|---|---|---|---|
1 | c.446A > T (4) | p.Asp149Val | This study | AFAP (34) | 40-100 | Absent (386) | Gastric adenocarcinoma (34) |
| Â | c.448A > T (4) | p.Lys150X | This study | Â | Â | Â | Multiple gastroduodenal adenomas(34) |
2 | c.454_457insAGAA (4) | p.Glu152ArgfsX17 | This study | AFAP (29) | 40-100 | Present (516) | Gastric hyperplastic polyps (29) |
3 | c.497insA (4) | p.Thr166AsnfsX2 | This study | AFAP (69) | > 100 | Present (694) | Multiple gastroduodenal adenomas (69) Multiple myeloma (69) |
4 | c.1958G > C (14) | p.Arg653Ser | This study | FAP (32) | > 300 | Present (324) | Multiple gastroduodenal adenomas (32) |
| Â | Â | Aberrant splicing | Â | Â | Â | Â | Duodenal adenocarcinoma (32) |
5 | c.1993_1994delTT (15) | p.Leu664IlefsX8 | [19] | FAP (28) | > 300 | NA7 | Desmoid tumor (31) Multiple gastroduodenal adenomas (41) Small intestinal adenocarcinoma (41) |
6 | c.3505_3509delGAGAA (15) | p.Glu1169ThrfsX8 | [20] | FAP (19) | > 300 | Absent (196) | Multiple gastroduodenal polyps (19) |
7 | c.3747C > A (15) | p.Cys1249X | [21] | FAP (22) | > 1000 | Present (224) | Multiple gastroduodenal adenomas (22) Desmoid tumor (25) |
8 | c.3927_3931delAAAGA (15) | p.Glu1309AspfsX4 | [21] | FAP (31) | > 1000 | Present (314) | Multiple gastroduodenal polyps (31) Papillary thyroid cancer (31) |