Table 2

Index cases with a CDH1 germline mutation

IDSexDx 1 ageDx 2 ageDx 3 ageFH ageMutationsPersonal and family history
2010 HDGC criteria met (n=11).
PS4FDGC 24DGC 24+43c.1147C>T/p.Gln383X*Three DGCs in family (n=1).
VJ1FDGC 52CRC 53DGC 40deletion of exon 11*Two DGCs in family, one of them < age 50 (n=5).
VJ4MDGC 33DGC 30c.832+1G>T*
VJ6MDGC 51DGC 49c.2398delC/p.Arg800AlafsX16fs
VJ9FDGC 63DGC 34c.1565+2dup
HC1MDGC 39DGC 56c.1137G>A
VJ2FDGC 17c.832+1G>T*Sporadic DGC < age 40 (n=3).
VJ5FDGC 21c.1470–1483del/p.Glu490AspfsX42*
VJ10FDGC 27c.1679C>G/p.Thr560ArgfsX17*
PS2FLBC 55DGC 25+35c.2386delC/p.Arg796fsX815*Personal or family history of DGC and
VJ12FDGC 47LBC 54c.469delG/p.Val157LeufsX58*LBC, one of the Dx < age 50 (n=2).
2010 HDGC criteria not met (n=7).
IC1FLBC 45LBC 49†LBC 41c.2164+2T>A*Two LBCs < age 50 in case or family (n=3).
IC2FLBC 32LBC 32†deletion of exon 3
VJ3FPThC 31LBC 38LBC 40†c.1008+1G>A
VJ7FDGC 51DGC 74c.1470–1483del/p.Glu490AspfsX42*Two DGCs in family, both ≥ age 50 (n=3).
VJ8MDGC 59DGC 75c.283C>T/p.Gln95X
PS3MDGC 58+60c.2343A>T/p.Glu781Asp
PS1MDGC 44c.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.