Table 1 Mutations and polymorphisms identified in the gastric cancer samples in the CDH1 gene

Location

Variant

Impact^a

Heterozygous n (%)

Homozygous n (%)

DGC n (%)

MGC n (%)

Promoter

c.-137C > A

Modifier

1 (5)

–

1 (5)

–

Intron 8

c.1138-92delA

Modifier

3 (15)

–

3 (15)

–

Intron 8

c.1138-75insA

Modifier

6 (30)

–

4 (20)

2 (10)

Exon 9

c.1221insC

High

2 (10)

–

1 (5)

1 (5)

Location

Variant

Rs

ClinVar/Impact^a

Heterozygous n (%)

Homozygous n (%)

DGC n (%)

MGC n (%)

Promoter

c.-285C > A /-160C > A

rs16260

Other/Modifier

4 (20)

1 (5)

3 (15)

2 (10)

Promoter

c.-197A > C /-73A > C

rs28372783

NI/Modifier

3 (15)

–

2 (10)

1 (5)

Promoter

c.-176C > T

rs34500817

NI/Modifier

1 (5)

–

1 (5)

–

Intron 1

c.48 + 6C > T

rs3743674

Benign/Low

9 (45)

10 (50)

13 (65)

7 (35)

Intron 3

c.388-44G > A

rs368884824

NI/Modifier

1 (5)

–

1 (5)

–

Intron 4

c.531 + 10G > C

rs33963999

Benign/Modifier

1 (5)

–

1 (5)

–

Exon 11

c.1680G > A

rs35741240

Benign/Low

1 (5)

–

1 (5)

–

Intron 12

c.1937-13 T > C

rs2276330

Benign/Modifier

2 (10)

1 (5)

–

3 (15)

Exon 13

c.2076C > T

rs1801552

Benign/Low

9 (45)

11 (55)

12 (60)

7 (35)

Intron 13

c.2164 + 17dupA

rs35686369

NI/Modifier

4 (20)

9 (45)

9 (45)

4 (20)

Exon 14

c.2253C > A

rs33964119

Benign/Low

4 (20)

–

3 (15)

1 (5)

Intron 15

c.2439 + 52G > A

rs33965115

NI/Modifier

–

1 (5)

–

1 (5)

UTR 3’

c.^a54C > A

rs1801026

Benign/Modifier

5 (25)

–

4 (20)

1 (5)