Table 2 Representative studies of germline CDH1 variants in familial GCs among trans-ethnic populations

Northern European desscents, and Spanish, Haida, French-Canadian, and Italian descents, including unknown origin

31.0%

13/42 families

Two or more DGC in first-degree relatives, with at least one diagnosed before 50

Two or more GC, with at least one DGC diagnosed before 50

Three or more DGC in first-degree relatives

Three or more GC with at least one DGC

Individuals diagnosed with DGC at younger than 45

Individuals diagnosed with both DGC and LBC

One family member diagnosed DGC and another with LBC

One family member diagnosed DGC and another with colon cancer

382delC

Frameshift

[77]

G892A

A298T

1064insT

Frameshift

1134 del8, ins5

Deletion

1212delC

N405Ifs

T1226C

W409R

1476delAG

Frameshift

1779insC

Frameshift

2061delTG

Frameshift

G2195A

R732A

2310delC

Frameshift

IVS5(+1) G>A

Splice site

IVS11(+5) G>A

Splice site

English, Irish, Spanish, Columbian, Filipino, Swedish/Norwagian, including unknown origin

39.5%

15/38 families

at least 2 GCs with 1 DGC younger than 50

either 1 DGC younger than 35 or multiple DGCs older than 50

283C>T

Q95X

[78]

715G>A

G239R

1137G>A splicing

Splicing site

1397-1398delTC

Frameshift

1682-1683insA

Frameshift

1901C>T

A634V

1913G>A

W638X

2064-2065delTG

Frameshift

2164+5G>A splicing

Splicing site

2195G>A

R732Q

2245C>T

R749W

2343A>T

E781D

2398delC

Frameshift

Caucasian, Hispanic, Maori, Chinese (one family)

29.2%

7/24 families

IGCLC criteria

49-2A>C

Splice site

[79]

353c>G

T118R

715G>A

G239R

1107delC

Frameshift

1137G>A

Splice site

1391_1392delTC

Frameshift

1901C>T

A634V

2095C>T

Q699X

2440-6C>G

Splice site

Netherlands, Portugal, Germany, Italy, Poland

0.0%

0/53 families

Diagnosed below 35

families with two GCs at or below 60

Families with three GCs at or below 70

[81]

Japanese

0.0%

0/14 families

At least three relatives had GCs with at least one first-degree relative of the other two

At least two successive generations had GCs

[84]

Japanese

2.6%

2/78 families

Three and more GCs in a family

At least two successive generations had GCs

GCs diagnosed younger than 50 in one of the relatives

1243A>C

I415L

[85]

Japanese

11.8%

2/17 individuals

At least one sibling diagnosed with GC

IVS+6T>C

Splice site

[86]

2494G>A

V832M

Japanese

15.4%

2/13 families

IGCLC criteria

1212delC

N405IfsX12

[82]

164-?_387+?del

V55GfsX38