Mutation data of the CDH1 gene

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case #/Frequency Consequence Organ Tumor Tumor sample or family LOH Origin Ethnic Origin Reference
D 732 9   732del9 1 in-frame deletion at codon 244-247 Stomach Diffuse gastric carcinoma         Becker I. et al. Lab Invest 75, 801(1996)
P 864 1 T 864C->T 1 polymorphism at ntd 863(Asp/Asp 288)             Becker K. F. et al. Cancer Res 54, 3845 (1994)
D 1009-1 37   IVS7-14del37 1 skipping of exon 8 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Cancer Res 54, 3845 (1994)
M 1109 1 C D370A 1 GAT-->GCT at codon 370 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Cancer Res 54, 3845 (1994)
D 1138-1 20   IVS8-7del20 1 skipping of exon 9 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Cancer Res 54, 3845 (1994)
M 1418 1 A V473D 1 GTC-->GAC at codon 473 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Cancer Res 54, 3845 (1994)
P 2253 1 T 2253C->T   polymorphism at ntd 2253(Asn/Asn 751)             Becker K. F. et al. Cancer Res 54, 3845 (1994)
D 1009-1 3   IVS7-3delCAG 1 skipping of exon 8 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Cancer Res 54, 3845 (1994)
D 1320+1 1   IVS9+1delG 1 skipping of exon 9 Stomach Diffuse gastric carcinoma   LOH     Becker K. F. et al. Cancer Res 54, 3845 (1994)
D 1320+1 1 T IVS9+1G->T 1 skipping of exon 9 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Cancer Res 54, 3845 (1994)
D 1320+1 1 C IVS9+1G->C 1 skipping of exon 9 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Cancer Res 54, 3845 (1994)
P 345 1 A 345G->A   polymorphism at ntd 345(Thr/Thr 115)   non-cancerous gastric tissue         Becker K. F. et al. Hum Genet 96, 739 (1995)
P 399 1 A 399T->A   polymorphism at ntd 399(Ser/Ser 133)   non-cancerous gastric tissue         Becker K. F. et al. Hum Genet 96, 739 (1995)
P 1744 1 T 1744C->T   polymorphism at ntd 1744(Leu/Leu 582)   non-cancerous gastric tissue         Becker K. F. et al. Hum Genet 96, 739 (1995)
P 2797 1 T 2797C->T   polymorphism (Noncoding)   non-cancerous gastric tissue         Becker K. F. et al. Hum Genet 96, 739 (1995)
P 1744 1 T 1744C->T   polymorphism at ntd 1744(Leu/Leu 582)             Becker K. F. et al. J Natl Cancer Inst 87, 1082 (1995)
P 2076 1 T 2076C->T   polymorphism at ntd 2076(Ala/Ala 692)             Becker K. F. et al. J Natl Cancer Inst 87, 1082 (1995)
FD 49 115   49del115 1 frameshift at codon 17 Breast Lobular breast carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
N 59 1 A W20X 1 TGG-->TAG stop at codon 20 Breast Lobular breast carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
N 67 1 T Q23X 1 CAG-->TAG stop at codon 23 Breast Lobular breast carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
FD 164 224   164del224 1 frameshift at codon 55 Breast Lobular breast carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
M 367 1 T H123Y 1 CAC-->TAC at codon 123 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
LD 469 63   469del63 1 in-frame deletion at codon 157 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
D 612 9   612del9 1 in-frame deletion at codon 204 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
LD 1009 129   1009del129 1 in-frame deletion at codon 337 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
LD 1138 183   1138del183 1 in-frame deletion at codon 380 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
M 1387 1 C E463Q 1 G-->C at codon 463 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
M 1793 1 A R598Q 1 CGA-->CAA at codon 598 Stomach Diffuse gastric carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
FD 1881 8   1881del8 1 frameshift at codon 627 Breast Lobular breast carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
FD 2029 1   2029delC 1 frameshift at codon 677 Breast Lobular breast carcinoma         Becker K. F. et al. Hum Mutat 13, 171 (1998)
P 345 1 A 345G->A 2% polymorphism at ntd 345(Thr/Thr 115)             Berx G. et al. EMBO J 14, 6107 (1995)
N 781 1 T E261X 1 GAA-->TAA stop at codon 261 Breast Lobular breast carcinoma         Berx G. et al. EMBO J 14, 6107 (1995)
N 1156 1 T E386X 1 GAG-->TAG stop at codon 386 Breast Lobular breast carcinoma         Berx G. et al. EMBO J 14, 6107 (1995)
FD 1196 4   1196delACTG 1 stop at codon 416 Breast Lobular breast carcinoma         Berx G. et al. EMBO J 14, 6107 (1995)
N 1510 1 T E504X 1 GAA-->TAA stop at codon 504 Breast Lobular breast carcinoma         Berx G. et al. EMBO J 14, 6107 (1995)
P 1680 1 C 1680G->C 2% polymorphism at ntd 1680(Thr/Thr 560)             Berx G. et al. EMBO J 14, 6107 (1995)
P 2076 1 T 2076C->T 26.50% polymorphism at ntd 2076(Ala/Ala 692)             Berx G. et al. EMBO J 14, 6107 (1995)
P 2253 1 T 2253C->T 4% polymorphism at ntd 2253(Asn/Asn 751)             Berx G. et al. EMBO J 14, 6107 (1995)
P 531+10 1 C IVS4+10G->C 2% polymorphism(gtagagaaag-->gtagagaaac at intron 4)             Berx G. et al. EMBO J 14, 6107 (1995)
FI 249 0 CCCTCGACAC CCGATTCAAA GTGGGCACAG ATGGTGTGATT 249ins41 1 stop codon in insertion Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 459 1   459delG 1 stop at codon 214 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 761 17   761del17 1 stop at codon 267 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FI 787 0 A 787insA 1 stop at codon 268 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 866 2   866delCG 1 stop at codon 291 Breast Lobular breast carcinoma         Berx G. et al. Oncogene 13, 1919 (1996)
FI 961 0 NNNNN 961ins5 1 stop at codon 355 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
N 1003 1 T R335X 1 CGA-->TGA stop at codon 335 Breast Lobular breast carcinoma   Heterozygous     Berx G. et al. Oncogene 13, 1919 (1996)
N 1036 1 T Q346X 1 CAA-->TAA stop at codon 346 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FI 1075 0 A 1075insA 1 stop at codon 371 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FI 1136 0 G 1136insG 1 stop at cedon 386 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 1224 1   1224delG 1 stop at codon 416 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 1548 13   1548del13 1 stop at codon 521 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FI 1565 0 GT 1565insGT 1 stop at codon 556 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
P 1677 1 T 1677C->T   polymorphism at ntd 1677(Ser/Ser 559)             Berx G. et al. Oncogene 13, 1919 (1996)
P 1680 1 C 1680G->C   polymorphism at ntd 1680(Thr/Thr 560)             Berx G. et al. Oncogene 13, 1919 (1996)
FI 1694 0 NNNN 1694ins4 1 stop at codon 587 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 1844 1   1844delT 1 stop at codon 630 Breast Lobular breast carcinoma         Berx G. et al. Oncogene 13, 1919 (1996)
FD 1861 1   1861delC 1 stop at codon 630 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 1891 2   1891delAC 1 stop at codon 661 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 1948 17   1948del17 1 stop at codon 661 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 1971 1   1971delC 1 stop at codon 658 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
FD 2045 19   2045del19 1 stop at codon 721 Breast Lobular breast carcinoma   Heterozygous     Berx G. et al. Oncogene 13, 1919 (1996)
P 2076 1 T 2076C->T   polymorphism at ntd 2076(Ala/Ala 692)             Berx G. et al. Oncogene 13, 1919 (1996)
P 2253 1 T 2253C->T   polymorphism at ntd 2253(Asn/Asn 751)             Berx G. et al. Oncogene 13, 1919 (1996)
S 1009-1 2   IVS7-2delAG 1 splice site at Intron 7 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
P 1937-13 1 C IVS12-13T->C   polymorphism(attgctttctccag-->actgctttctccag at intron 12)             Berx G. et al. Oncogene 13, 1919 (1996)
S Jan-40 1 A IVS15-1G->A 1 splice site at Intron 15 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
P 531+10 1 C IVS4+10G->C   polymorphism (gtagagaaag-->gtagagaaac at intron 4)             Berx G. et al. Oncogene 13, 1919 (1996)
S 532-1 1 T IVS4-1G->T 1 in-frame deletion at exon5 Breast Lobular breast carcinoma   LOH     Berx G. et al. Oncogene 13, 1919 (1996)
S 1008 1 T 1008G->T   frameshift at codon336 Stomach Diffuse gastric carcinoma Family A   germline   Guiford P. et al. Nature 392, 402 (1998)
FI 1409 1 T T470I   ACA-->ATA at codon 470 Stomach Diffuse gastric carcinoma Family B   germline   Guiford P. et al. Nature 392, 402 (1998)
P 2076 1 T 2076C->T   polymorphism at ntd 2076(Ala/Ala 692)             Guiford P. et al. Nature 392, 402 (1998)
N 2095 1 T Q699X   CAG-->TAG stop at codon 699 Stomach Diffuse gastric carcinoma Family C   germline   Guiford P. et al. Nature 392, 402 (1998)
P 1937-13 1 C IVS12-13T->C   polymorphism(attgctttctccag-->actgctttctccag at intron 12)             Guiford P. et al. Nature 392, 402 (1998)
FI 2382 0 C 2382-2386insC(stretch of C)   frameshift at codon 794 Stomach Diffuse gastric carcinoma Family B   germline   Guiford P. et al. Nature 392, 402 (1998)
M 944 1 G N315S 2 (10%) AAT-->AGT at codon 315 Stomach Lobular breast carcinoma         Kanai Y. et al. Jpn J Cancer Res 85, 1035 (1994)
M 577 1 C T193P 1 ACT-->CCT at codon 193 Stomach Signet ring cell carcinoma   Heterozygous     Muta H. et al. Jpn J Cancer Res 87, 843 (1996)
D 1138-11 28   IVS8-11del28 1 Not determined Stomach Signet ring cell carcinoma   LOH     Muta H. et al. Jpn J Cancer Res 87, 843 (1996)
S 1138-11 21   IVS8-11del21 1 skipping exon9 Stomach Signet ring cell carcinoma   LOH     Muta H. et al. Jpn J Cancer Res 87, 843 (1996)
S 1320+26 1 T IVS9+26A->T 1 Not determined Stomach Signet ring cell carcinoma   Heterozygous     Muta H. et al. Jpn J Cancer Res 87, 843 (1996)
D 823 18   823del10+1del8 1 in-frame deletion at codon 275-277 Stomach Signet ring cell carcinoma MKN45(cell line) LOH     Oda T. et al. Proc Natl Acad Sci USA 91, 1858 (1994)
S 1008 1 A 1008G->A 1 frameshift at codon 336 Stomach Signet ring cell carcinoma KATOIII(cell line)       Oda T. et al. Proc Natl Acad Sci USA 91, 1858 (1994)
FI 372 0 C 372-377insC(strech of C) 1 frameshift at codon 124-126 Uterus Endometrium   Heterozygous     Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 435 1 A 435C->A 1 (0.4%) polymorphism at ntd 435(Ser/Ser 145)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 933 1 G 933C->G 3 (1.1%) polymorphism at ntd 933(Leu/Leu 311)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 1680 1 C 1680G->C 1.10% polymorphism at ntd 1680(Thr/Thr 560)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
M 1849 1 A A617T 1 GCA-->AACA at codon 617 Uterus Endometrium   LOH     Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 1896 1 T 1896C->T 3 (0.7%) polymorphism at ntd 1896(His/His 632)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 2076 1 C 2076T->C 23.70% polymorphism at ntd 2076(Ala/Ala 692)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
M 2131 1 G L711V 1 CTG-->GTG at codon 711 Uterus Endometrium   Heterozygous     Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 2253 1 T 2253C->T 5.90% polymorphism at ntd 2253(Asn/Asn 751)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 2292 1 T 2292C->T 1.10% polymorphism at ntd 2292(Asp/Asp 764)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
M 2512 1 G S838G 1 AGC-->GGC at codon 838 Ovary     LOH     Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 2637 1 T 2637C->T 0.40% polymorphism at ntd 2637(Gly/Gly 879)             Risinger J. I. et al. Nature Genet 7, 98 (1994)
P 1212 1 G 1212C->G 3.70% polymorphism at ntd 1212(Pro/Pro 404)             Soares P. et al. Int J Cancer 70, 32 (1997)
M 1774 1 A A592T 1 GCC-->ACC at codon 592 Thyroid Diffuse sclerosing variant of papillary thyroid carcinoma         Soares P. et al. Int J Cancer 70, 32 (1997)
P 1896 1 T 1896C->T   polymorphism at ntd 1896(His/His 632)             Soares P. et al. Int J Cancer 70, 32 (1997)
P 2634 1 T 2634C->T 1 (3.7%) polymorphism at ntd 2634(Gly/Gly 878)             Soares P. et al. Int J Cancer 70, 32 (1997)
D 1008 1   1008delG 1 skipping of exon 8 Stomach Signet ring cell carcinoma   LOH     Tamura G. et al. Jpn J Cancer Res 87, 1153 (1996)
FI 1010 0 A 1010insA 1 skipping of exon 9 Stomach Signet ring cell carcinoma   LOH     Tamura G. et al. Jpn J Cancer Res 87, 1153 (1996)
D 1198 3   1198delGAT 1 in-frame deletion at codon 400 Stomach Diffuse gastric carcinoma   LOH     Tamura G. et al. Jpn J Cancer Res 87, 1153 (1996)
D 1252 18   1252del18 1 in-frame deletion at codon 418 Stomach Diffuse gastric carcinoma   Homozygous     Tamura G. et al. Jpn J Cancer Res 87, 1153 (1996)
P 2076 1 T 2076C->T   polymorphism at ntd 2076(Ala/Ala 692)             Tamura G. et al. Jpn J Cancer Res 87, 1153 (1996)
N 187 1 T R63X 2 CGA-->TGA stop at codon 63 Stomach Diffuse gastric carcinoma family C   germline European Gayther S. A. et al. Cancer Res 58, 4086 (1998)
FI 1711 0 G 1711insG 3 stop at codon 587 Stomach Diffuse gastric carcinoma family B   germline European Gayther S. A. et al. Cancer Res 58, 4086 (1998)
N 1792 1 T R598X 2 CGA-->TGA stop at codon 598 Stomach Diffuse gastric carcinoma family D   germline European Gayther S. A. et al. Cancer Res 58, 4086 (1998)

*1 Abbreviations are as follows: M, Missense; D, Deletion; LD, Large Deletion; N, Nonsense; P, Polymorphism; S, Splicing; FD, Frameshift Deletion; FI, Frameshift Insertion.







Last updated 2 Oct 1999