Table 2.
Representative studies of germline CDH1 variants in familial GCs among trans-ethnic populations
| Ethnicity/country | Frequency of germline CDH1 variants | Criteria of familial GC | Mutaiton | Reference | ||
|---|---|---|---|---|---|---|
| Northern European desscents, and Spanish, Haida, French-Canadian, and Italian descents, including unknown origin | 31.0% | 13/42 families |
Two or more DGC in first-degree relatives, with at least one diagnosed before 50 Two or more GC, with at least one DGC diagnosed before 50 Three or more DGC in first-degree relatives Three or more GC with at least one DGC Individuals diagnosed with DGC at younger than 45 Individuals diagnosed with both DGC and LBC One family member diagnosed DGC and another with LBC One family member diagnosed DGC and another with colon cancer |
382delC | Frameshift | [77] |
| G892A | A298T | |||||
| 1064insT | Frameshift | |||||
| 1134 del8, ins5 | Deletion | |||||
| 1212delC | N405Ifs | |||||
| T1226C | W409R | |||||
| 1476delAG | Frameshift | |||||
| 1779insC | Frameshift | |||||
| 2061delTG | Frameshift | |||||
| G2195A | R732A | |||||
| 2310delC | Frameshift | |||||
| IVS5(+1) G>A | Splice site | |||||
| IVS11(+5) G>A | Splice site | |||||
| English, Irish, Spanish, Columbian, Filipino, Swedish/Norwagian, including unknown origin | 39.5% | 15/38 families |
at least 2 GCs with 1 DGC younger than 50 either 1 DGC younger than 35 or multiple DGCs older than 50 |
283C>T | Q95X | [78] |
| 715G>A | G239R | |||||
| 1137G>A splicing | Splicing site | |||||
| 1397-1398delTC | Frameshift | |||||
| 1682-1683insA | Frameshift | |||||
| 1901C>T | A634V | |||||
| 1913G>A | W638X | |||||
| 2064-2065delTG | Frameshift | |||||
| 2164+5G>A splicing | Splicing site | |||||
| 2195G>A | R732Q | |||||
| 2245C>T | R749W | |||||
| 2343A>T | E781D | |||||
| 2398delC | Frameshift | |||||
| Caucasian, Hispanic, Maori, Chinese (one family) | 29.2% | 7/24 families | IGCLC criteria | 49-2A>C | Splice site | [79] |
| 353c>G | T118R | |||||
| 715G>A | G239R | |||||
| 1107delC | Frameshift | |||||
| 1137G>A | Splice site | |||||
| 1391_1392delTC | Frameshift | |||||
| 1901C>T | A634V | |||||
| 2095C>T | Q699X | |||||
| 2440-6C>G | Splice site | |||||
| Netherlands, Portugal, Germany, Italy, Poland | 0.0% | 0/53 families |
Diagnosed below 35 families with two GCs at or below 60 Families with three GCs at or below 70 |
[81] | ||
| Japanese | 0.0% | 0/14 families |
At least three relatives had GCs with at least one first-degree relative of the other two At least two successive generations had GCs |
[84] | ||
| Japanese | 2.6% | 2/78 families |
Three and more GCs in a family At least two successive generations had GCs GCs diagnosed younger than 50 in one of the relatives |
1243A>C | I415L | [85] |
| Japanese | 11.8% | 2/17 individuals | At least one sibling diagnosed with GC | IVS+6T>C | Splice site | [86] |
| 2494G>A | V832M | |||||
| Japanese | 15.4% | 2/13 families | IGCLC criteria | 1212delC | N405IfsX12 | [82] |
| 164-?_387+?del | V55GfsX38 | |||||
Representative studies, which investigated more than 10 kindreds of HDGC or familial GCs, are listed