Table 3. Current CDH1 testing criteria and potential new criteria.
| CDH1 testing criteria | Definition | Cases that meet criteria in this study | Number of cases with CDH1 mutation in this study |
|---|---|---|---|
| Current (Fitzgerald et al) |
2 GC cases in family, one confirmed DGC age <50 |
0 |
0 |
| |
3 confirmed DGC cases in 1st or 2nd degree relatives any age |
0 |
0 |
| |
DGC age <40 |
0 |
0 |
| |
Personal or family history of DGC and ILC, 1 dx <50 |
1 |
0 |
| New criterion suggested by Benusiglio et al |
Personal or family history of 2 ILC age <50a |
3 |
0 |
| New criterion suggested current study with different age thresholds |
Bilateral LCIS/ILC age <55 |
41 |
4 (10%) |
| |
Bilateral LCIS/ILC age <50 |
21 |
3 (14%) |
| Bilateral LCIS/ILC age <45 | 7 | 2 (29%) |
Abbreviations: DGC=diffuse gastric cancer; ILC=invasive lobular breast cancer; LCIS=lobular carcinoma in situ.
a
After exclusion of BRCA1/2 mutation.