Table 1.
APC germline mutations identified in Greek FAP patients with supportive clinical data
| Family ID | Exon | Mutation | Consequence | Age at diagnosis | Phenotype | Cancer | Reason for diagnosis |
|---|---|---|---|---|---|---|---|
| F1195 | 3 | c.340delC | p.Pro114LeufsX11 | 49 | 50-100 colorectal polyps | N | symptoms |
| F1275 | 4 | c.520_523delCCTT | p.Pro174X1 | 30 | 50-100 colorectal polyps | N | family member |
| F75 | 6 | c.694C > T | p.Arg232X | 37 | 50-100 colorectal polyps | N | symptoms |
| F1270 | 8 | c.835-8 A > G | aberrant splicing of ex. 7 | 38 | 100-200 colorectal polyps | N | symptoms |
| F76 | 9 | c.1234 C > T | p.Gln412X & aberrant splicing of ex. 9 | 30 | 30-50 colorectal polyps | N | symptoms |
| F1196 | 9 | c.1263G > A | p.Trp421X | 28 | 100-1000 colorectal polyps, UGI polyps, desmoids | Y | symptoms |
| F113 | 11 | c.1495C > T | p.Arg499X | 51 | 100-1000 colorectal polyps | N | symptoms |
| F741 | 11 | c.1495C > T | p.Arg499X | 40 | 100-200 colorectal polyps | N | symptoms |
| F880 | 15A | c.2181_2182insG | p.Asn728GlufsX6 | 26 | 100-1000 colorectal polyps | N | family member +symptoms |
| F160 | 15B | c.2413 C > T | p.Arg805X | 23 | 100-1000 colorectal polyps, desmoids, thyroid cancer | Y | family member |
| F1186 | 15C | c.2701C > T | p.Gln901X | 28 | 100-1000 colorectal polyps | Y | family member +symptoms |
| F899 | 15D | c.2821G > T | p.Glu941X | 23 | 50-100 colorectal polyps | N | family |
| F274 | 15D | c.2991 T > A | p.Tyr997X | 56 | 100-1000 colorectal polyps | N | symptoms |
| F474 | 15D | c.2991 T > A | p.Tyr997X | 26 | 100-1000 colorectal polyps | N | family member |
| F83 | 15E | c.3183_3187delACAAA | p.Gln1062FsX1 | 36 | 100-1000 colorectal polyps | Y | symptoms |
| F446 | 15E | c.3189_3192delTGAG | p.Glu1064LysfsX61 | 34 | 100-1000 colorectal polyps | N | family member |
| F71 | 15E | c.3214delA | p.Ser1072ValfsX54 | 35 | 100-1000 colorectal polyps | N | symptoms |
| F50 | 15E | c.3260_3261delTC | p.Leu1087GlnfsX31 | 23 | 100-1000 colorectal polyps | N | symptoms |
| F85 | 15G | c.3830delT | p.Leu1277TyrfsX11 | 28 | > 1000 colorectal polyps, 150 UGI polyps | N | family member +symptoms |
| F153 | 15I | c.4508C > G | p.Ser1503X | 48 | 100-200 colorectal polyps | N | symptoms |
cDNA numbering is based on reference sequence: GenBank NM_000038. +1 corresponds to the A of the ATG translation initiation codon. Novel mutations are highlighted in boldface.