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J Med Genet 36:873-880 doi:10.1136/jmg.36.12.873
  • Review article

Familial gastric cancer: overview and guidelines for management*

Table 1

E-cadherin germline truncating mutations reported to date

Exon Mutation (effect) Reference
2 A(49-2)G (splice site) 20
2 G59A (W20X) 20
2 G70T (E24X) 21
3 C187T (R63X) 19
3 C190T (Q64X) 21
3 372-377 delC (frameshift) 22
5 G586T (G196X) 21
7 G1008T (splice site) 8
8 G(1137+1)A (splice site) 21
11 1711 insG (frameshift) 19
11 1588insC (frameshift) 21
12 C1792T (R598X) 19
13 C2095T (Q699X) 8
15 2382-2386 insC (frameshift) 8

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