Table 1 Summary of the germline CDH1 mutation screening studies in families with gastric cancer
Study | Total of families | HDGC families | FDGC families | FIGC families | FGC families | CDH1 truncating mutations | CDH1 missense mutations | % CDH1 mutations in HDGC | % CDH1 mutations in FDGC |
|---|---|---|---|---|---|---|---|---|---|
Guilford et al, 1998 [9] | 3 | 3 | 0 | 0 | 0 | 3 | 0 | 100% | 0% |
Gayther et al, 1998 [10] | 18 | 10 | 0 | 8 | 0 | 3 | 0 | 30.0% | 0% |
Richards et al, 1998 [11] | 8 | 8 | 0 | 0 | 0 | 2 | 0 | 25.0% | 0% |
Guilford et al, 1999 [12] | 6 | 4 | 2** | 0 | 0 | 6** | 0 | 100% | 100% |
Shinmura et al, 1999 [13] | 13 | 3 | 0 | 10 | 0 | 0 | 1 | 33.3% | 0% |
Yoon et al, 1999 [85] | 5 | 5 | 0 | 0 | 0 | 0 | 2 | 40% | 0% |
Iida et al, 1999 [86] | 14 | 0 | 6 | 6 | 2 | 0 | 0 | 0% | 0% |
Keller et al, 1999 [44] | 7 | 2 | 5 | 0 | 0 | 1 | 0 | 50.0% | 0% |
Avizienyte et al, 2001 [87] | 11 | 5 | 4 | 1 | 1 | 0 | 0 | 0% | 0% |
Dussaulx-Garin et al, 2001 [88] | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 100% | 0% |
Humar et al, 2002 [89] | 10 | 7 | 3* | 0 | 0 | 5* | 0 | 57.1% | 33.3% |
Oliveira et al, 2002 [32] | 39 | 11 | 24 | 4 | 0 | 3 | 1 | 36.4% | 0% |
Yabuta et al, 2002 [26] | 17 | 2 | 3 | 0 | 12 | 0 | 1 | 50.0% | 0% |
Wang et al, 2003 [27] | 78 | 0 | 2** | 0 | 76 | 0 | 2** | 0% | 100% |
Oliveira et al, 2004 [28] | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 100% | 0% |
Jonsson et al, 2002 [25] | 3 | 3 | 0 | 0 | 0 | 1 | 0 | 33.3% | 0% |
Oliveira et al, in press [30] | 32 | 9 | 10 | 3 | 10 | 0 | 1 | 11.1% | 0% |
Keller et al, 2004 [29] | 28*** | 2 | 21 | 5 | 0 | 0 | 1* | 0% | 4.8% |
Brooks-Wilson et al, in press [31] | 34 | 26 | 7* | 1 | 0 | 10 | 3* | 46.2% | 14.3% |
TOTAL | 328 | 102 | 87 | 38 | 101 | 36 | 12 | 40.2% | 8.0% |