Table 1.
CDH1 variants identified in patients with colorectal cancer (CRC)
| Alteration | Location | Type | Families | CRC cases | Other tumours | References |
| c.45_46insT (p.Gln16Serfs*18) | Exon 1 | Frameshift | 1 | 2 | HDGC and LBC. | 33 |
| c.49-2A>G | Intron 1 | Splice site | 1 | 1 | HDGC and lung. | 31 |
| c.49-2A>C | Intron 1 | Splice site | 1 | 1 | Breast, skin prostate, bladder, pancreas and throat. | 27 |
| c.1008G>T | Exon 7 | Splice site | 1 | 2 | HDGC. | 13 |
| c.1018A>G (p.Thr340Ala) | Exon 8 | Missense | 2 | 2 | HDGC† and ovary.† | 71 33† |
| c.1225T>C (p.Trp409Arg) | Exon 9 | Missense | 1 | 1 (SRCC) | DGC. | 15 |
| c.1774G>A (p.Ala592Thr)* |
Exon 12 | Missense | 2 | 3 | DGC and breast andrenal. | 72 69† |
For each mutation, the affected site, type of mutation, number of families and carriers affected by CRC and other tumours described in the same genetic background are assigned.
*Classified as non-pathogenic in ref 69.
†Described elsewhere.
DGC, diffuse gastric cancer; HDGC, hereditary diffuse gastric cancer; LBC, lobular breast cancer; SRCC, signet ring cell carcinoma.