Type of variants in CDH1 mutation probands
| Type of mutation | Gastric cancer (n) | Breast cancer (n) | Other cancer (n) | No cancer (n) |
| Missense | 0% | 7% (4) | 14% (1) | 24% (6) |
| Loss of function | 100% (30) | 93% (50) | 86% (6) | 76% (19) |
Loss of function included nonsense, frameshift, splicing variants (±1.2 nt) and gross del/dups. p.T379T, 2195G>A and p.G571S were classified as affecting splicing25 26