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) |