Skip to main content

Table 1 Identified CDH1 germline mutations

From: A short guide to hereditary diffuse gastric cancer

  Cancer typea Other cases with gastric cancers Other cases with DGC Age at diagnosis Unconfirmed breast cancer Confirmed LBC Non-gastric cancersb CDH1 mutation Positionc Typed Reference
1         3G>C ex1 non [2]
2         41delT ex1 del [3]
3 DGC 4 2 30s, 40s, 59, 60s, 67, 70s 1 1 3 Co 45insT ex1 ins [4]
4 DGC 3   54, 55, 68 1   Co, Pr, Bl, Pn 49-2A>C in2 ss [5]
5 DGC 5   30, 34, 40, 53, 58, 69    Lu, Co 49-2A>G in1 ss [6]
6 DGC 1 1 28    Lu, Cx 53delC ex2 del [7]
7 DGC 2   27, 50     59G>A ex2 non [6]
8 DGC 4 4 37, 38, 39, 40, 45, 46, 66 3   Leu 70G>T ex2 non [8]
9 DGC 6 1 46, 46, 62, 69, 72, 72    Ut 185G>T ex3 mis [9]
10 DGC 2 1 66, 69, 70s    2 Pr 187C>T ex3 non [10]
11 DGC 1 1 28     190C>T ex3 non [8, 11]
12 DGC 1   34 2    283C>T ex3 non [11]
13 DGC 1   64     353C>G ex3 mis [5]
14 DGC 3   15, 37, 58 1 1   372delC ex3 del [12]
15         377delC ex3 del [2]
16 DGC 6   40, 42, 45, 50, 55, 56 2    382delC ex3 del [13]
17         515C>G ex4 mis [2]
18 DGC 5       531+2T>A in4 ss [14]
19         532-18C>T in4 ss [2]
20 DGC 3 3 31, 46, 55     586G>T ex5 non [8]
21 DGC 3   36, 48, 50 1    687+1G>A in5 ss [13]
22 DGC 1 1 29    Co 715G>A ex6 mis [5]
23 DGC 6   30, 33, 39, 41, 49, 63     731A>G ex6 mis [15]
24 DGC 1   20    3 Co 753insG ex6 ins e
25 HPC 1       808T>G ex6 mis [16]
26 DGC 7 3 23, 29, 29, 42, 70s, 70s 1    832G>A ex6 ss [4]
27 DGC 2 1 32, 33 0    892G>A ex7 mis [13]
28 HGC 3   22, 44, 45, 51, 73 2   Ly, Pr 1003C>T ex7 non [17]
29 DGC 28 9 14–74 1 bilateral Co 1008G>T ex7 ss [1]
30 DGC 1 1 30s, 35    non-gastric 1018A>G ex8 mis [4]
31         1062delG ex8 del [2]
32 DGC 2 1 50, 58 0    1064insT ex8 ins [13]
33 DGC 1 1 27, 64    Co 1107delC ex8 non [5]
34 DGC 2      Co, DuBr 1118C>T ex8 mis [18]
35 DGC 3 2 30, 32, ? 0    1134del8ins5 ex8 del+ins [13]
36 DGC 2   18, 37    many 1137G>A ex8 ss [2, 5, 14]
37 DGC 3 3 25, 41, 44     1137+1G>A in8 ss [8]
38 DGC 4 3 17, 32, 46, 47 4    1212delC ex9 del [13]
39 DGC 1 1 51    Co(SRC) 1226T>C ex9 mis [13]
40 DGC 5 2 63     1243A>C ex9 mis [19]
41         1285C>T ex9 mis [2]
42 DGC 1 1 61, 78 1    1391–1392delTC ex10 del [5]
43 DGC 1 1 40 0    1476delAG ex10 del [13]
44 DGC, LBC        ND ex10 non [20]
45 DGC 1   49     1460T>C ex10 mis [15]
46 DGC 2 1 30s, 40s     1472_1473insA ex10 ins [4]
47 DGC    60    Co 1488–1494del CGAGGAC ex10 del [8]
48         1507C>T ex10 non [2]
49 DGC 2 1 56     1565+1G>T in10 ss [7]
50 DGC 2 2 48, 59 1    1588insC ex11 ins [8]
51 DGC 3   58, 71, 82    Co 1610delC ex11 del [21]
52 DGC 1   49, 58, 73 1 bilateral Lu 1619insG ex11 ins [22]
53 DGC 3 1 38–52 1    1682insA ex11 ins [2]
54 DGC 1 1 19 1   Pr 1710delT ex11 del [7]
55 DGC 6   30, 32, 40, 43, 56, 57     1711insG ex11 ins [10]
56 DGC 2 2 44, 44 5 1   1711+5G>A in11 ss [13]
57 HPC 2   46, 53, 61, 68, 75, 76, 79, 70, 81, 85 1 3 Pr, Co, Ut 1774G>A ex12 mis 17  
58 DGC 2 1 35, 42 0    1779insC ex12 ins [13]
59 DGC 4   27, 28, 39, 43     1792C>T ex12 non [10]
60         1795A>T ex12 mis [2]
61         1849G>A ex12 mis [23, 24]
62         1876T>A ex12 mis [2]
63 DGC        1901C>T ex12 mis [2, 5, 24]
64 DGC 10 1 21–59     1913G>A ex12 non [2]
65 DGC 1 1 47 0    2061delTG ex13 del [13]
66 DGC        2095C>T ex13 non [1]
67 LBC        2161C>G ex13 ss [2]
68 DGC 3 1 38–44     2164+5G>A in13 ss [2]
69 Colon 2 2 36, 70 4 2   2195G>A ex14 mis [13]
70 DGC 3 2 36–49     2245C>T ex14 mis [2]
71         2276delG ex14 del [2]
72 DGC 3 1 44, 44, 52     2295+5G>A in14 ss [7]
73 DGC 8   42, 45, 49, 57, 75, 79, 79, ? 1    2310delC ex15 del [13]
74 HPC 1   64, 74, 74    2 Pr 2329G>A ex15 mis [17]
75 DGC 2 2 51–63 1    2343A>T ex15 mis [2]
76 DGC 6 1 16, 34, 35     2381insC ex15 ins [1]
77 GC 2   52     2396C>G ex15 mis [12]
78 DGC 17 2 25–80 13 3   2398delC ex15 del [2]
79 DGC 6   53, 56     2494G>A ex16 mis [25]
80 DGC 3 1 37, 43, 45, 60, 71 2   Lu, Ly 2440-1C>T in15 ss e
81 DGC 1 1     Lu 2440-6C>G in15 ss [5]
  1. aDGC – diffuse gastric cancer, LBC – lobular breast cancer, HPC – hereditary prostate cancer
  2. bBl – bladder, Co – colon, Cx – cervix, DuBr – ductal breast, Leu – leukaemia, Lu – lung, Ly – lymphoma, Pn – pancreas, Pr – prostate, Ut – uterus
  3. cex – exon, in – intron
  4. ddel – deletion, ins – insertion, mis – missense, non – nonsense, ss – splice site
  5. eH.M. unpublished result