CDH1 mutation status and study criteria
| Criteria no | Definition | Families (n) | Truncating mutations (n) | Splice site mutations (n) | Missense mutations (n) | Total number of mutations |
|---|---|---|---|---|---|---|
| *Family member with signet ring carcinoma of the colon. | ||||||
| 1 | Two or more documented cases of DGC in first degree relatives, with at least one diagnosed before age 50 | 15 | 5 | 1 | 2 | 8 (53%) |
| 1A | Two or more cases of GC, with at least one DGC diagnosed before age 50 | 10 | 3 | 1 | 0 | 4 (40%) |
| 2 | Three or more documented cases of DGC in first degree relatives, diagnosed at any age | 1 | 0 | 0 | 0 | 0 |
| 2A | Three or more cases of GC, diagnosed at any age, with at least one documented case of DGC | 3 | 0 | 0 | 0 | 0 |
| 3 | Isolated individual diagnosed with DGC at less than 45 years of age | 9 | 0 | 0 | 0 | 0 |
| 4 | Isolated individual diagnosed with both DGC and lobular breast cancer (no other criteria met) | 0 | 0 | 0 | 0 | 0 |
| 5 | One family member diagnosed with DGC and another with lobular breast cancer (no other criteria met) | 3 | 0 | 0 | 0 | 0 |
| 6 | One family member diagnosed with DGC and another with colon cancer (no other criteria met) | 1* | 0 | 0 | 1 | 1 (100%) |
| 7 | Intestinal gastric cancer | 1 | 0 | 0 | 0 | 0 |