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

From: CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer

New variants
Location Variant Impacta 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)  
Previously reported variants
Location Variant Rs ClinVar/Impacta 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)
  1. a: According to the Variant Effect Predictor (Ensembl ®). DGC diffuse gastric cancer. MGC mixed gastric cancer. Rs reference SNP. NI No information