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) | Number5 of 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) |
| c.448A > T (4) | p.Lys150X | This study | 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) |
| Aberrant splicing | 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) |
1The reference sequence of the APC gene [GenBank:NM_000038] was used. Nucleotide +1 is the A of the ATG-translation initiation codon.
2The exon that contained the ATG-translation initiation codon was regarded as the first exon.
3When a germline APC mutation had been reported previously, the paper reporting it is cited.
4Age at diagnosis is shown.
5The number of colorectal polyps refers to the cumulative number.
6Age at last observation is shown.
7NA: not available.