Table 2 Details from all the CDH1 germline mutations described to date in familial gastric cancer
CDH1 Mutation | Gene location | Mutation type | Predicted premature stop codon | Reference |
|---|---|---|---|---|
45insT | Exon 1 | Frameshift | Codon 32 | Oliveira et al, 2002 [32] |
49-2A>G | Intron 1 | Splice-site | Unknown | Richards et al, 1999 [11] |
53delC | Exon 2 | Frameshift | Codon 32 | Humar et al, 2002 [89] |
59G>A | Exon 2 | Nonsense (W20X) | Codon 20 | Richards et al, 1999 [11] |
70G>T | Exon 2 | Nonsense (E24X) | Codon 24 | Guilford et al, 1999 [12] |
185G>T | Exon 3 | Missense (G62V) | Ns | Shinmura et al, 1999 [13] |
187C>T | Exon 3 | Nonsense (R63X) | Codon 63 | Gayther et al, 1998 [10] |
190C>T | Exon 3 | Nonsense (Q64X) | Codon 64 | Guilford et al, 1999 [12] |
283C>T | Exon 3 | Nonsense (Q95X) | Codon 95 | Dussaulx-Garin et al, 2001 [88] |
372-377delC | Exon 3 | Frameshift | Codon 249 | Keller et al, 1999 [44] |
382delC | Exon 3 | Frameshift | Codon 215 | Brooks-Wilson et al, in press [31] |
531+1G>A | Intron 5 | Splice-site | Unknown | Brooks-Wilson et al, in press [31] |
586G>T | Exon 5 | Nonsense (G196X) | Codon 196 | Guilford et al, 1999 [12] |
731A>G | Exon 6 | Missense (D244G) | Ns | Yoon et al, 1999 [85] |
832G>A | Exon 6 | Frameshift | Codon 281 Codon 336+18bp int 7 | Oliveira et al, 2002 [32] |
892G>A | Exon 7 | Missense (A298T) | Ns | Brooks-Wilson et al, in press [31] |
1003C>T | Exon 7 | Nonsense (R335X) | Codon 335 | Jonsson et al, 2002 [25] |
1008G>T | Exon 7 | Splice-site | Codon 349 | Guilford et al, 1998 [9] |
1018A>G | Exon 8 | Missense (T340A) | Ns | Oliveira et al, 2002 [32] |
1064insT | Exon 8 | Frameshift | Codon 393 | Brooks-Wilson et al, in press [31] |
1135del8ins5 | Exon 8 | Splice-site | Codon 386 | Oliveira et al, 2004 [28]; Brooks-Wilson et al, in press [31] |
1137+1G>A | Intron 8 | Donor splice-site | Unknown | Guilford et al, 1999 [12] |
1212delC | Exon 9 | Frameshift | Codon 417 | Brooks-Wilson et al, in press [31] |
1226T>C | Exon 9 | Missense (W409R) | Ns | Brooks-Wilson et al, in press [31] |
1243A>C | Exon 9 | Missense (I415L) | Ns | Wang et al, 2003 (two families) [27] |
1460T>C | Exon 10 | Missense (V487A) | Ns | Yoon et al, 1999 [85] |
1472insA | Exon 10 | Frameshift | Codon 536 | Oliveira et al, 2002 [32] |
1476delAG | Exon 10 | Frameshift | Codon 547 | Brooks-Wilson et al, in press [31] |
1487del7 | Exon 10 | Frameshift | Codon 556 | Guilford et al, 1999 [12] |
1565+1G>T | Intron 10 | Splice-site | Unknown | Humar et al, 2002 [89] |
1588insC | Exon 11 | Frameshift | Codon 536 | Guilford et al, 1999 [12] |
1710delT | Exon 11 | Frameshift | Unknown | Humar et al, 2002 [89] |
1711insG | Exon 11 | Frameshift | Codon 587 | Gayther et al, 1998 [10] |
1711+5G>A | Intron 11 | Splice-site | Unknown | Brooks-Wilson et al, in press [31] |
1779insC | Exon 12 | Frameshift | Codon 604 | Brooks-Wilson et al, in press [31] |
1792C>T | Exon 12 | Nonsense (R598X) | Codon 598 | |
1901C>T | Exon 12 | Missense (A634V) | Codon 653 | Oliveira et al, in press [30] |
2061delTG | Exon 13 | Frameshift | Codon 783 | Brooks-Wilson et al, in press [31] |
2095C>T | Exon 13 | Nonsense (Q699X) | Codon 699 | Guilford et al, 1998 [9] |
2195G>A | Exon 14 | Missense (R732Q) | Ns | Brooks-Wilson et al, in press [31] |
2295+5G>A | Intron 14 | Splice-site | Unknown | Humar et al, 2002 [89] |
2310delC | Exon 15 | Frameshift | Codon 783 | Brooks-Wilson et al, in press [31] |
2382-2386insC | Exon 15 | Frameshift | Codon 349 | Guilford et al, 1998 [9] |
2396C>G | Exon 15 | Missense (P799R) | Ns | Keller et al, 2004 [29] |
2494G>A | Exon 16 | Missense (V832M) | Ns | Yabuta et al, 2002 [26] |