Table 1.
Mutations and polymorphisms identified in the gastric cancer samples in the CDH1 gene
| New variants | |||||||
| Location | Variant | Impacta | Heterozygous n (%) | Homozygous n (%) | DGC n (%) | MGC n (%) | |
| Promoter | c.-137C > A | Modifier | 1 (5) | – | 1 (5) | – | |
| Intron 8 | c.1138-92delA | Modifier | 3 (15) | – | 3 (15) | – | |
| Intron 8 | c.1138-75insA | Modifier | 6 (30) | – | 4 (20) | 2 (10) | |
| Exon 9 | c.1221insC | High | 2 (10) | – | 1 (5) | 1 (5) | |
| Previously reported variants | |||||||
| Location | Variant | Rs | ClinVar/Impacta | Heterozygous n (%) | Homozygous n (%) | DGC n (%) | MGC n (%) |
| Promoter | c.-285C > A /-160C > A | rs16260 | Other/Modifier | 4 (20) | 1 (5) | 3 (15) | 2 (10) |
| Promoter | c.-197A > C /-73A > C | rs28372783 | NI/Modifier | 3 (15) | – | 2 (10) | 1 (5) |
| Promoter | c.-176C > T | rs34500817 | NI/Modifier | 1 (5) | – | 1 (5) | – |
| Intron 1 | c.48 + 6C > T | rs3743674 | Benign/Low | 9 (45) | 10 (50) | 13 (65) | 7 (35) |
| Intron 3 | c.388-44G > A | rs368884824 | NI/Modifier | 1 (5) | – | 1 (5) | – |
| Intron 4 | c.531 + 10G > C | rs33963999 | Benign/Modifier | 1 (5) | – | 1 (5) | – |
| Exon 11 | c.1680G > A | rs35741240 | Benign/Low | 1 (5) | – | 1 (5) | – |
| Intron 12 | c.1937-13 T > C | rs2276330 | Benign/Modifier | 2 (10) | 1 (5) | – | 3 (15) |
| Exon 13 | c.2076C > T | rs1801552 | Benign/Low | 9 (45) | 11 (55) | 12 (60) | 7 (35) |
| Intron 13 | c.2164 + 17dupA | rs35686369 | NI/Modifier | 4 (20) | 9 (45) | 9 (45) | 4 (20) |
| Exon 14 | c.2253C > A | rs33964119 | Benign/Low | 4 (20) | – | 3 (15) | 1 (5) |
| Intron 15 | c.2439 + 52G > A | rs33965115 | NI/Modifier | – | 1 (5) | – | 1 (5) |
| UTR 3’ | c.a54C > A | rs1801026 | Benign/Modifier | 5 (25) | – | 4 (20) | 1 (5) |
a: According to the Variant Effect Predictor (Ensembl ®). DGC diffuse gastric cancer. MGC mixed gastric cancer. Rs reference SNP. NI No information