Table 2.

A. Study criteria and E-cadherin mutation status
Clinical criteriaNo. familiesNo. affected familiesType of E-cadherin mutationPredicted effect
1. Two or more documented cases of DGC diagnosed before age 50621 substitution 1 deletionPremature stop-codon Frameshift
1A. Two or more cases of GC, with at least one DGC before age 50832 substitution 1 substitutionPremature stop-codon Alternative Splice site
2A. Three or more cases of gastric cancer, diagnosed at any age, with at least one documented case of DGC411 substitutionPremature stop codon
3. Isolated individual diagnosed with DGC at <45 y1021 substitution 1 deletionMissense change Frameshift
4. Isolated individual diagnosed with both DGC and LBC111 substitutionLoss of start codon
5. One family member diagnosed with DGC and another with LBC10
6. One family member diagnosed with DGC and another with colon cancer10
B. Details of the gastric cancer families in the study and mutations detected
Case/criterion
Members reported with gastric cancer/ confirmed DGC
Age range
Members reported with breast cancer/ confirmed LBC
Gene location
Nucleotide change
F1/18/225-670Exon 7c.1003C>T
F2/110/235-872/1Exon 14c.2276del
F3/1A5/131-550Exon 7c. 1003C>T
F4/1A4/121-750Exon 13c.2161C>G
F5/1A4/130-542/0Exon 12c.1792C>T
F6/2A3/124-523/2*Exon 3c.187C>T
C5/31/1270Exon 8c.1063del
C6/31/1270Exon 9c.1285C>T
C7/41/1731/1Exon 1c.3G>C
  • * One individual had mixed lobular and ductal carcinoma of the breast with signet ring cells.