Summary of E-cadherin germline mutation analysis
| Index patient | Patients (n) | Mutations (n) | Mutation* | Location | Type |
|---|---|---|---|---|---|
| There were no early onset intestinal type cancers. *Nucleotide position refers to the E-cadherin sequence NM_004360.2 deposited in the NCBI/GenBank. †Seven patients, including carriers of the germline mutation in exon 3, were reported in a previous study.4 ‡Four patients fulfilled the strict criteria for hereditary diffuse type gastric cancer.19 §Not found among 50 control individuals. n, number. | |||||
| Familial | |||||
| Diffuse type | 24†, ‡ | 1 | 372delC | exon 3 | frameshift |
| Mixed type | 6 | 1 | 2396C>G, P799R | exon 15 | missense§ |
| Intestinal type | 5 | 0 | – | – | – |
| Total | 35 | 2 | |||
| Early onset | |||||
| Diffuse type | 14 | 1 | 1619insG | exon 11 | frameshift |
| Mixed type | 1 | 0 | – | – | – |
| Total | 15 | 1 | |||