Table 1

CDH1 germline mutations detected to date

Reference

CDH1 mutation

Exon/Intron

Mutation Type

Ancestry


[19]

5'UTR(-117)G > A

Promotor

5'UTR substitution

USA (1)

[19]

5'UTR(-71)C > G

Promotor

5'UTR substitution

USA (1)

[4]

-63 C > A

Promotor

5'UTR substitution

Italy (1)

[20]

Del 5'UTR-ex 1

Promotor

Deletion

Spain (1)

[20]

del ex 1-2

Exon 1-2

Deletion

Ireland (1), Canada (1) Lithuania (1)

[5]

2 T > C

Exon 1

Missense

Unknow (1)

[21]

3 G > C

Exon 1

Nonsense

Canada (1)

[19]

41delT

Exon 1

Deletion

USA (1)

[22]

45insT

Exon 1

Insertion

UK (1)

[5]

46insTGC

Exon 1

Insertion

Unknow (1)

[19]

48 + 5 G > C

Intron 1

Splice Site

USA (1)

[19]

48 + 15 C > G

Intron 1

Splice Site

USA (1)

[18,23,24]

49-2A > G

Intron 1

Splice Site

Europe (1), UK (1), Ireland (1)

[25]

53delC

Exon 2

Deletion

Europe (1)

[23]

59 G > A

Exon 2

Non sense

UK (1)

[26]

70 G > T

Exon 2

Non sense

USA (1)

[27]

185 G > T

Exon 3

Missense

Japan (1)

[28]

187 C > T

Exon 3

Non sense

USA (1)

[1]

190 C > T

Exon 3

Non sense

New Zealand (1)

[29]

283 C > T

Exon 3

Non sense

France (1)

[18]

353 C > G

Exon 3

Missense

Europe (1)

[30]

372delC

Exon 3

Deletion

Germany (1)

[31]

377delC

Exon 3

Deletion

Unknow (1)

[32]

382delC

Exon 3

Deletion

Europe (1)

[19]

388 + 26 C > T

Intron 3

Splice Site

USA (1)

[31]

515 C > G

Exon 4

Missense

Unknown (1)

[33]

525 C > G

Exon 4

Missense

Finland (1)

[6]

532-18 C > T

Intron 4

Splice site

UK (1), Portugal (1)

[26]

586 G > T

Exon 5

Non sense

Europe (1)

[32]

531 + 1 G > A

Intron 5

Splice site

Europe (1)

[34]

531 + 2 T > A

Intron 5

Splice site

France (1)

[35]

641 T > C

Exon 5

Missense

Europe (1)

[4]

670 C > T

Exon 5

Missense

Italy (1)

[18]

715 G > A

Exon 6

Missense

Europe (1)

[36]

731A > G

Exon 6

Missense

Korea (1)

[5]

753insG

Exon 6

Insertion

Unknown (1)

[31]

808 T > G

Exon 6

Missense

Unknown (1)

[22]

832 G > A

Exon 6

Splice site

Pakistan (1)

[37]

833-2A > G

Inton 6

Splice site

USA (1)

[32]

892 G > A

Exon 7

Missense

Europe (1)

[21,38]

1003 C > T

Exon 7

Non sense

Sweden (1), Canada (2)

[1]

1008 G > T

Exon 7

Splice site

New Zealand (1)

[22,39]

1018A > G

Exon 8

Missense

Europe (1), China (1)

[5]

1023 T > G

Exon 8

Nonsense

Unknown (1)

[21]

1063delT

Exon 8

Deletion

Canada (1)

[32]

1064insT

Exon 8

Insertion

UK (1)

[18]

1107delC

Exon 8

Deletion

Spain (1)

[40]

1118 C > T

Exon 8

Missense

Italy (1)

[32,41]

1134del8ins5

Exon 8

Deletion/Insertion

Netherlands (1)

[18,34]

1137 G > A

Exon 8

Splice site

Europe (2)

[26]

1137 + 1 G > A

Intron 8

Splice site

USA (1)

[32,42]

1212delC

Exon 9

Deletion

Europe (1), USA (1)

[32]

1226 T > C

Exon 9

Missense

Europe (1)

[43]

1243A > C

Exon 9

Missense

Japan (1)

[21]

1285 C > T

Exon 9

Missense

Canada (1)

[32]

1226 T > C

Exon 9

Missense

Europe (1)

[44]

1306_1303insA, 1306_1307delTT

Exon 9

Del/Ins

Austria (1)

[18]

1391-1392delTC

Exon 10

Deletion

Europe (1)

[36]

1460 T > C

Exon 10

Missense

Korea (1)

[45]

1466insC

Exon 10

Insertion

UK (1)

[22]

1472insA

Exon 10

Insertion

UK (1)

[32]

1476delAG

Exon 10

Deletion

Europe (1)

[26]

1487del7

Exon 10

Deletion

New Zealand (1)

[46]

1507 C > T

Exon 10

Non sense

China (1)

[25]

1565 + 1 G > T

Intron 10

Splice site

New Zealand (1)

[25]

1565 + 2insT

Intron 10

Insertion

USA (1)

[26]

1588insC

Exon 11

Insertion

USA (1)

[47]

1610delC

Exon 11

Deletion

Spain (1)

[48]

1619insG

Exon 11

Insertion

Germany (1)

[31]

1682insA

Exon 11

Insertion

Ireland (1)

[25]

1710delT

Exon 11

Deletion

USA (1)

[28]

1711insG

Exon 11

Insertion

USA (1)

[32]

1711 + 5 G > A

Intron 11

Splice site

Europe (1)

[49]

1774 G > A

Exon 12

Missense

Sweden (1)

[32]

1779insC

Exon 12

Insertion

Europe (1)

[21,25,28]

1792 C > T

Exon 12

Non sense

UK (1)

[31]

1795A > T

Exon 12

Missense

Unknown (1)

[32]

1779insC

Exon 12

Insertion

Europe (1)

[6]

1849 G > A

Exon 12

Missense

USA (2)

[31]

1876 T > A

Exon 12

Missense

Unknown (1)

[6,18,41]

1901 C > T

Exon 12

Missense/splice site

UK (1), New Zealand (1), Portugal (1)

[31]

1913 G > A

Exon 12

Nonsense

Spain (1)

[19]

1937-13 T > C

Intron 12

Splice Site

USA (1)

[32]

2061delTG

Exon 13

Deletion

Europe (1)

[37]

2064delTG

Exon 13

Deletion

USA (1)

[1,18]

2095 C > T

Exon 13

Non sense

New Zealand (1), China (1)

[21]

2161 C > G

Exon 13

Splice site

Canada (1)

[31]

2164 + 5 G > A

Exon 14

Splice site

Unknwon (1)

[20]

del 14-16

Ex 14-16

Deletion

Europe (1)

[32]

2195 G > A

Exon 14

Missense

Europe (1)

[31]

2245 C > T

Exon 14

Missense

Colombia (1)

[50]

2269 G > A

Exon 14

Missense

Portugal (1)

[51]

2275 G > T

Exon 14

Nonsense

Iran (1)

[21]

2276delG

Exon 14

Deletion

Canada (1)

[5]

2287 G > T

Exon 14

Nonsense

Unknown (1)

[25]

2295 + 5 G > A

Intron 14

Splice site

Europe (1)

[32]

2310delC

Exon 15

Deletion

Europe (1)

[31]

2343A > T

Exon 15

Missense

UK (1)

[1]

2381insC

Exon 15

Insertion

New Zealand (1)

[31]

2392 G > A

Exon 15

Missense

Unknown (1)

[37]

2395delC

Exon 15

Deletion

USA (1)

[48]

2396 C > G

Exon 15

Missense

Germany (1)

[31]

2398delC

Exon 15

Deletion

Ireland (2)

[19]

2439 + 31 G > A

Intron 15

Splice site

USA (1)

[52]

2399delG

Exon15

Deletion

USA (1)

[18]

2440-6 C > G

Intron 15

Splice site

Europe (1)

[53]

2494 G > A

Exon 16

Missense

Japan (1)

[20]

Del ex 16

Exon 16

Deletion

Europe (1)


Corso et al. BMC Cancer 2012 12:8   doi:10.1186/1471-2407-12-8

Open Data