Identified CDH1 germline alterations in families with lobular breast carcinoma and without aggregation for diffuse gastric cancers
| Location | Alterations | Type | Reference |
| Intron 1 | c.48+1G>A | Splicing site | Petridis et al 18 |
| Exon 2 | 88C>A [P30T]* | Missense | Schrader et al 110 |
| Exon 3 | Del_exon 3 | Deletion | Benusiglio et al 5 |
| Exon 3 | c.283C>T | Stop codon | Xie et al 111 |
| Exon 4 | c.517insA | Insertion | Masciari et al 61 |
| Intron 7 | c.1008+1G>A | Splicing site | Benusiglio et al 5 |
| Exon 9 | c.1223C>T [A408T]† | Missense | Schrader et al 110 |
| Exon 9 | c.1297G>A [D433N]† | Missense | Schrader et al 110 |
| Exon 10 | c.1465insC | Insertion | Petridis et al 18 |
| Exon 11 | c.1582del | Deletion | Xie et al 111 |
| Exon 12 | c.1774G>A [A592T]* | Missense | Stuebs et al 20 |
| Exon 13 | 1942G>T [E648X]† | Non-sense | Petridis et al 18 |
| Intron 13 | c.2164+2T>A | Splicing site | Benusiglio et al 5 |
| Exon 15 | c.2398delC | Deletion | Petridis et al 18 |
| Exon 16 | c.2494G>A [V832M]* | Missense | Schrader et al 110 |
| Exon 16 | c.2512A>G [S838G]† | Missense | Stuebs et al 20 |
*Classified as ‘benign’.
†Classified as ‘VUS’.
VUS, variant of uncertain significance.