Details of the gastric cancer families in the study and mutations detected
| Family no | Cancer type, age | Study criteria met | Other family members with gastric cancers, n (ages) | Family members with breast cancer, n (confirmed lobular breast cancer) | CDH1 mutation: exon, nucleotide (amino acid) | Type of mutation |
|---|---|---|---|---|---|---|
| †DGC, confirmed by pathology report; ‡IGC, confirmed by pathology report; ¶Mixed histology, confirmed by pathology report. | ||||||
| F1 | DGC, 40 | 1A | 3 (36, 48, 50) | 1 | IVS5(+1) G>A | Splice site |
| F2 | DGC, 33 | 1 | 2† (35, 42) | 0 | Exon 12, 1779insC | Insertion |
| F3 | DGC, 9 | 1A | 1 (40) | 0 | Negative | |
| F4 | Unaffected | 1A | 8 (42, 45, 49, 57, 75, 79, 79, unknown) | 1 | Exon 15, 2310delC | Deletion |
| F5 | Colon, 74 | 1 | 4 (25†, 42†, 50, unknown) | 3 | Negative | |
| F6 | DGC, 45 | 5 | 0 | 3 (1) | Negative | |
| F7 | DGC, 51 | 6* | 0 | 0 | Exon 9, T1226C (W409R) | Missense |
| F8 | DGC, 62 | 2A | 3 (58, ∼60, 63) | 0 | Negative | |
| F9 | DGC, 61 | 1 | 4 (17, 32†, 46†, 47†) | 4 | Exon 9, 1212delC | Deletion |
| F10 | DGC, 32 | 1A | 6 (40, 42, 45, 50, 55, 56) | 2 | Exon 3, 382delC | Deletion |
| F11 | DGC 48 | 1 | 2 (44†, 44†) | 5 (1) | IVS11(+5) G>A | Splice site |
| F12 | DGC, 31 | 3 | 0 | 0 | Negative | |
| F13 | Unaffected (colonic polyp) | 1 | 2 (36†, 70†) | 4 (2) | Exon 14, G2195A (R732Q) | Missense |
| F14 | DGC, 65 | 2A | 2 (44, 70) | 0 | Negative | |
| F15 | Bilateral lobular breast cancer, 52 | 5 | 1 (40†) | 1 | Negative | |
| F16 | DGC, 24 | 1 | 1† (47) | 0 | Exon 13, 2061del(TG) | Deletion |
| F17 | Prostate, 72 | 1A | 5 (30, 37†, 39‡,50, 70) | 0 | Negative | |
| F18 | DGC, 32 | 1A | 1 (40) | 0 | Exon 10, 1476del(AG) | Deletion |
| F19 | DGC, 74 | 3 | 0 | 3 (2) | Negative by SSCP | |
| F20 | DGC, 75 | 2A | 2 (55;72) | 0 | Negative by SSCP | |
| F21 | DGC, 58 | 2A | 1 (59) | 0 | Negative | |
| F22 | GC, 61 | 7 | 6 (54‡; 59; 74; 3 in 70s) | 2 | Negative | |
| F23 | Unaffected | 1A | 2(42†; 60s) | 2 | Negative | |
| F24 | Oesophageal, 62 | 1A | 3 (∼50, 63, 65) | 0 | Negative | |
| F25 | DGC, 34 | 1 | 2 (50, 58†) | 0 | Exon 8, 1064insT | Insertion |
| F26 | DGC, 36 | 1 | 2 (32†, 33) | 0 | Exon 7, G892A (A298T) | Missense |
| F27 | DGC, <50 | 3 | 0 | 0 | Negative | |
| F28 | DGC, 43 | 1A | 1 (60) | 0 | Negative | |
| F29 | DGC, <50 | 3 | 0 | 0 | Negative | |
| F30 | DGC, 55 | 1 | 3 (44†, 52†, unknown) | 2 | Negative | |
| F31 | DGC, <50 | 3 | 0 | 0 | Negative | |
| F32 | DGC, 45 | 3 | 0 | 0 | Negative | |
| F33 | DGC, 48 | 3 | 0 | 0 | Negative | |
| F34 | DGC, 33 | 1 | 2 (35†, unknown) | 0 | Negative | |
| F35 | Oesophageal, 60 | 1 | 3 (34†, 44†, 68) | 0 | Negative | |
| F36 | GC¶, 46 | 1A | 1 (unknown) | 0 | Negative | |
| F37 | DGC, 36 | 3 | 0 | 0 | Negative | |
| F38 | DGC, 39 | 1 | 3† (33, 67, 69) | 0 | Negative | |
| F39 | DGC, 48 | 3 | 0 | 0 | Negative | |
| F40 | DGC, 38 | 1 | 1 (54) | 0 | Negative | |
| F41 | DGC, 27 | 1 | 3 (30†; 32†; unknown) | 0 | Exon 8, 1134 del8,ins5 | Deletion and insertion |
| F42 | DGC, 41 | 1 | 2 (44†, 57) | 0 | Negative | |
| F43 | DGC, <50 | 3 | 0 | 0 | Negative | |