Index cases with a CDH1 germline mutation
| ID | Sex | Dx 1 age | Dx 2 age | Dx 3 age | FH age | Mutations | Personal and family history |
|---|---|---|---|---|---|---|---|
| 2010 HDGC criteria met (n=11). | |||||||
| PS4 | F | DGC 24 | – | – | DGC 24+43 | c.1147C>T/p.Gln383X* | Three DGCs in family (n=1). |
| VJ1 | F | DGC 52 | CRC 53 | – | DGC 40 | deletion of exon 11* | Two DGCs in family, one of them < age 50 (n=5). |
| VJ4 | M | DGC 33 | – | – | DGC 30 | c.832+1G>T* | |
| VJ6 | M | DGC 51 | – | – | DGC 49 | c.2398delC/p.Arg800AlafsX16fs | |
| VJ9 | F | DGC 63 | – | – | DGC 34 | c.1565+2dup | |
| HC1 | M | DGC 39 | – | – | DGC 56 | c.1137G>A | |
| VJ2 | F | DGC 17 | – | – | – | c.832+1G>T* | Sporadic DGC < age 40 (n=3). |
| VJ5 | F | DGC 21 | – | – | – | c.1470–1483del/p.Glu490AspfsX42* | |
| VJ10 | F | DGC 27 | – | – | – | c.1679C>G/p.Thr560ArgfsX17* | |
| PS2 | F | LBC 55 | – | – | DGC 25+35 | c.2386delC/p.Arg796fsX815* | Personal or family history of DGC and |
| VJ12 | F | DGC 47 | – | – | LBC 54 | c.469delG/p.Val157LeufsX58* | LBC, one of the Dx < age 50 (n=2). |
| 2010 HDGC criteria not met (n=7). | |||||||
| IC1 | F | LBC 45 | LBC 49† | – | LBC 41 | c.2164+2T>A* | Two LBCs < age 50 in case or family (n=3). |
| IC2 | F | LBC 32 | LBC 32† | – | – | deletion of exon 3 | |
| VJ3 | F | PThC 31 | LBC 38 | LBC 40† | – | c.1008+1G>A | |
| VJ7 | F | DGC 51 | – | – | DGC 74 | c.1470–1483del/p.Glu490AspfsX42* | Two DGCs in family, both ≥ age 50 (n=3). |
| VJ8 | M | DGC 59 | – | – | DGC 75 | c.283C>T/p.Gln95X | |
| PS3 | M | – | – | – | DGC 58+60 | c.2343A>T/p.Glu781Asp | |
| PS1 | M | DGC 44 | – | – | – | c.1595G>A/p.Trp523X* | Sporadic DGC ≥ age 40 (n=1). |
*Mutation not previously reported.
†Contralateral LBC.
CRC, colorectal cancer; DGC, diffuse gastric cancer; Dx, diagnosis of cancer (any type) for the index case; FH, family history of DGC or lobular breast cancer in first- or second-degree relatives; LBC, lobular breast cancer; PThC, papillary thyroid cancer.