Table 1 Summary of the germline CDH1 mutations screening studies in families with diffuse gastric cancer
Studies (reference no.)DGC (n)HDGC (n)FDGC (n)CDH1 mut DGC n (%)CDH1 mut HDGC n (%)CDH1 mut FDGC n (%)Trunc mut HDGC+FDGC n (%)Mis mut HDGC+FDGCn (%)
Studies of ⩾3 families
43303 (100)3 (100)0 (0.0)3 (100)0 (0.0)
12101003 (30.0)3 (30.0)0 (0.0)3 (100)0 (0.0)
138802 (25.0)2 (25.0)0 (0.0)2 (100)0 (0.0)
146426 (100)4 (100)2 (100)6 (100)0 (0.0)
153301 (33.3)1 (33.3)0 (0.0)0 (0.0)1 (100)
165502 (40.0)2 (40.0)0 (0.0)0 (0.0)2 (100)
176060 (0.0)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
187251 (14.3)1 (50.0)0 (0.0)1 (100)0 (0.0)
199540 (0.0)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
2010735 (50.0)4 (57.1)1 (33.3)5 (100)0 (0.0)
213511244 (11.4)4 (36.4)0 (0.0)3 (75.0)1 (25.0)
225231 (20.0)1 (50.0)0 (0.0)0 (0.0)1 (100)
232022 (100.0)0 (0.0)2 (100)0 (0.0)2 (100)
243301 (33.3)1 (33.3)0 (0.0)1 (100)0 (0.0)
253300 (0.0)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
26199101 (5.3)1 (11.1)0 (0.0)0 (0.0)1 (100)
27232211 (4.3)0 (0.0)1 (4.8)0 (0.0)1 (100)
28*28141411 (39.3)7 (50.0)4 (28.6)9 (81.8)2 (18.2)
295501 (20.0)1 (20.0)0 (0.0)1 (100)0 (0.0)
307700 (0.0)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
312010106 (30.0)3 (30.0)3 (30.0)6 (100)0 (0.0)
32141401 (7.1)1 (7.1)0 (0.0)0 (0.0)1 (100)
3336241210 (27.8)7 (29.2)3 (25.0)7 (70.0)3 (30.0)
Sub-total26715111662 (23.2)46 (30.5)16 (13.8)47 (75.8)15 (24.2)
Reports of 1 or 2 families
341101 (100)1 (100)0 (0.0)1 (100)0 (0.0)
351101 (100)1 (100)0 (0.0)1 (100)0 (0.0)
361101 (100)1 (100)0 (0.0)1 (100)0 (0.0)
372202 (100)2 (100)0 (0.0)2 (100)0 (0.0)
381101 (100)1 (100)0 (0.0)1 (100)0 (0.0)
Sub-total6606 (100)6 (100)0 (0.0)6 (100)0 (0.0)
Total27315711668 (24.9)52 (33.1)16 (13.8)53 (77.9)15 (22.1)
  • *One HDGC family and respective truncating mutation was not included since it is already described in reference 35.

  • DGC, diffuse gastric cancer; HDGC, hereditary diffuse gastric cancer; FDGC, familial diffuse gastric cancer.