Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case #/Frequency |
Consequence |
Disease |
Hereditary Pattern |
Onset |
Ethnic Origin |
Origin |
Reference |
FD |
1796 |
5 |
|
2024delCTTAT |
1 |
termination at codon 599 |
breast cancer |
AD*2 |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
N |
2830 |
1 |
T |
K944X |
1 |
Lys->Stop at codon 944 |
breast cancer and malignant melanoma |
AD |
late |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
4258 |
1 |
|
4486delG |
2 |
frameshift at codon 1420 |
breast cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
5164 |
2 |
|
5392delAG |
1 |
frameshift at codon 1722 |
male and female breast cancer and ovarian cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
5217 |
5 |
|
5445delTTTAA |
1 |
termination at codon 1739 |
breast cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
6373 |
1 |
|
6373delA |
1 |
frameshift at codon 2125 |
breast and ovarian cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
6407 |
5 |
|
6635delTAAAT |
1 |
frameshift at codon 2136 |
bilateral and multifocal breast cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
N |
7558 |
1 |
T |
R2520X |
1 |
Arg->Stop at codon 2520 |
breast cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
8474 |
1 |
|
8702delC |
1 |
frameshift at codon 2825 |
male and female breast cancer |
AD |
early |
Danish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
9408 |
1 |
|
9636delT |
1 |
frameshift at codon 3136 |
male and female breast cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
9580 |
2 |
|
9808delCC |
1 |
frameshift at codon 3194 |
breast and ovarian cancer |
AD |
early |
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
-26 |
1 |
A |
203G/A |
1 |
no effect |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
92 |
1 |
C |
W31S |
1 |
Trp->Ser at codon 31 |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
1796 |
1 |
C |
F599S |
1 |
Phe->Ser at codon 599 |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
7050 |
1 |
A |
7278C/A |
1 |
no amino acid change |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
7242 |
1 |
G |
7470A/G |
1 |
no amino acid change |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
7411 |
1 |
C |
T2471P |
1 |
Thr->Pro at codon 2471 |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
9268 |
1 |
C |
F3090L |
1 |
Phe->Leu at codon 3090 |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
9317 |
1 |
C |
W3106S |
1 |
Trp->Ser at codon 3106 |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
9346 |
1 |
T |
P3116S |
1 |
Pro->Ser at codon 3116 |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
P |
9378 |
1 |
T |
Q3126H |
1 |
Gln->His at codon 3126 |
|
|
|
Swedish |
germinal |
Hakansson (1997) Am. J. Hum. Genet. 60, 1068. |
FD |
49 |
2 |
|
277delAC |
1 |
frameshift at codon 17 |
male breast cancer |
sporadic |
late |
Hungarian |
germinal |
Ramus (1997) Am. J. Hum. Genet. 60,1242. |
FI |
4005 |
0 |
A |
4232insA |
1 |
frameshift at codon 1335 |
male breast cancer |
sporadic |
late |
Hungarian |
germinal |
Ramus (1997) Am. J. Hum. Genet. 60,1242. |
FD |
5946 |
1 |
|
6174delT |
1 |
frameshift at codon 1982 |
breast and ovarian cancer |
AD |
early |
Jewish |
germinal |
Ramus (1997) Am. J. Hum. Genet. 60,1242. |
N |
6656 |
1 |
|
S2219X |
1 |
Ser->Stop at codon 2219 |
breast cancer |
AD |
early |
Hungarian |
germinal |
Ramus (1997) Am. J. Hum. Genet. 60,1242. |
FI |
7807 |
0 |
AG |
8034insAG |
1 |
frameshift at codon 2603 |
breast cancer |
AD |
early |
Hungarian |
germinal |
Ramus (1997) Am. J. Hum. Genet. 60,1242. |
FI |
9099 |
0 |
A |
9326insA |
1 |
frameshift at codon 3033 |
breast cancer |
AD |
early |
Hungarian |
germinal |
Ramus (1997) Am. J. Hum. Genet. 60,1242. |
FI |
3068 |
0 |
A |
3295insA |
1 |
frameshift at codon 1023 |
breast cancer |
AD |
early |
Scottish |
germinal |
Ramus (1997) Am. J. Hum. Genet. 60,1242. |
N |
7480 |
1 |
T |
R2494X |
1 |
Arg->Stop at codon 2494 |
breast cancer |
AD |
ND |
Finnish |
germinal |
Vehmanen (1997) Hum. Mol. Genet. 6, 2309. |
FD |
771 |
5 |
|
999del5 |
1 |
frameshift at codon 257 |
male and female breast, ovarian, prostatic and pancreatic cancer |
AD |
early |
Icelandic |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
N |
8327 |
1 |
G |
L2776X |
1 |
Leu->Stop at codon 2776 |
breast, ovarian and prostatic cancer |
AD |
early |
Finnish |
germinal |
Vehmanen (1997) Am. J. Hum. Genet. 60, 1050. |
S |
Feb-18 |
1 |
G |
9346-2A->G |
1 |
loss of splice acceptor site |
breast and ovarian cancer |
AD |
early |
Finnish |
germinal |
Vehmanen (1997) Am. J. Hum. Genet. 60, 1050. |
FD |
754 |
4 |
|
982del4 |
2 |
frameshift at codon 252 |
male and female breast cancer and ovarian cancer |
AD |
early |
Canadian |
germinal |
Serova (1997) Am. J. Hum. Genet. 60, 486. |
FD |
5718 |
2 |
|
5946delCT |
1 |
frameshift at codon 1906 |
male and female breast cancer |
AD |
early |
Canadian |
germinal |
Serova (1997) Am. J. Hum. Genet. 60, 486. |
FD |
9426 |
2 |
|
9654delTT |
1 |
frameshift at codon 3142 |
male and female breast cancer and ovarian cancer |
AD |
early |
Canadian |
germinal |
Serova (1997) Am. J. Hum. Genet. 60, 486. |
M |
125 |
1 |
G |
Y42C |
1 |
Tyr->Cys at codon 42 |
breast cancer |
AD |
early |
Canadian |
germinal |
Serova (1997) Am. J. Hum. Genet. 60, 486. |
FD |
5621 |
4 |
|
5849del4 |
1 |
frameshift at codon 1874 |
breast cancer |
AD |
early |
Canadian |
germinal |
Serova (1997) Am. J. Hum. Genet. 60, 486. |
N |
5645 |
1 |
A |
S1882X |
1 |
Ser->Stop at codon 1882 |
breast cancer |
AD |
early |
Canadian |
germinal |
Serova (1997) Am. J. Hum. Genet. 60, 486. |
S |
7003 |
6 |
|
7231del6 |
1 |
skipping of exons 12 and 13 |
breast cancer |
AD |
early |
Canadian |
germinal |
Serova (1997) Am. J. Hum. Genet. 60, 486. |
FD |
6275 |
2 |
|
6503delTT |
1 |
frameshift at codon 2092 |
breast cancer |
AD |
early |
Flemish |
germinal |
Claes (1999) Hum. Mutat. 13, 256. |
FD |
6603 |
2 |
|
6831delTG |
1 |
frameshift at codon 2201 |
breast cancer |
AD |
early |
Flemish |
germinal |
Claes (1999) Hum. Mutat. 13, 256. |
FD |
2808 |
4 |
|
3036delACAA |
1 |
frameshift at codon 936 |
breast cancer |
AD |
early |
Swiss |
germinal |
Garvin (1997) J. Med. Genet. 34, 900. |
FD |
7069 |
2 |
|
7297delCT |
1 |
frameshift at codon 2357 |
breast cancer and melanoma |
AD |
early |
Swiss |
germinal |
Garvin (1997) J. Med. Genet. 34, 900. |
FD |
2806 |
4 |
|
3034del4 |
1 |
frameshift at codon 936 |
breast and ovarian cancer |
AD |
early |
Belgian |
germinal |
Goelen (1999) J. Med. Genet. 36, 304. |
FD |
6270 |
2 |
|
6498delTA |
1 |
frameshift at codon 2090 |
breast cancer |
AD |
early |
Belgian |
germinal |
Goelen (1999) J. Med. Genet. 36, 304. |
FD |
1389 |
2 |
|
1617delAG |
1 |
frameshift at codon 463 |
breast and ovarian cancer |
AD |
early |
Belgian |
germinal |
Goelen (1999) J. Med. Genet. 36, 304. |
FD |
6275 |
2 |
|
6503delTT |
1 |
frameshift at codon 2092 |
breast and ovarian cancer |
AD |
early |
Belgian |
germinal |
Goelen (1999) J. Med. Genet. 36, 304. |
FD |
2442 |
1 |
|
2670delC |
1 |
frameshift at codon 814 |
breast cancer |
AD |
early |
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
FD |
2845 |
1 |
|
3073delT |
1 |
frameshift at codon 949 |
breast cancer |
AD |
early |
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
FD |
6468 |
2 |
|
6696delTC |
1 |
frameshift at codon 2156 |
breast cancer |
AD |
early |
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
865 |
1 |
C |
N289H |
1 |
Asn->His at codon 289 |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
1114 |
1 |
A |
H372N |
1 |
His->Asn at codon 372 |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
2971 |
1 |
G |
N991D |
1 |
Asn->Asp at codon 991 |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
10234 |
1 |
G |
I3412V |
1 |
Ile->Val at codon 3412 |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
1365 |
1 |
G |
1593A/G |
1 |
no amino acid change |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
2229 |
1 |
C |
2457T/C |
1 |
no amino acid change |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
3396 |
1 |
G |
3524A/G |
1 |
no amino acid change |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
3807 |
1 |
C |
4035T/C |
1 |
no amino acid change |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
P |
7242 |
1 |
G |
7470A/G |
1 |
no amino acid change |
|
|
|
Taiwanese |
germinal |
Li (1999) Hum. Genet. 104, 201. |
FD |
2836 |
1 |
|
3064delG |
1 |
frameshift at codon 946 |
breast cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
N |
5645 |
1 |
A |
Q1882X |
1 |
Gln->Stop at codon 1882 |
breast and ovarian cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
FD |
5796 |
2 |
|
6024delTA |
1 |
frameshift at codon 1932 |
breast and ovarian cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
FD |
5851 |
4 |
|
6079del4 |
1 |
frameshift at codon 1951 |
breast cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
FD |
5946 |
1 |
|
6174delT |
1 |
frameshift at codon 1982 |
breast and ovarian cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
N |
5959 |
1 |
T |
Q1987X |
1 |
Gln->Stop at codon 1987 |
breast cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
FD |
6238 |
1 |
|
6466delT |
1 |
termination at codon 2080 |
breast cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
FD |
6468 |
2 |
|
6696delTC |
1 |
frameshift at codon 2156 |
breast and ovarian cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
FD |
6486 |
4 |
|
6486del4 |
1 |
frameshift at codon 2162 |
breast and ovarian cancer |
AD |
early |
Italian |
germinal |
De Benedetti (1998) Hum. Mutat. 12, 215. |
FID |
6267 |
3 |
C |
6495GCA->C |
1 |
Glu->Asp at codon 2089 and termination at codon 2090 |
breast cancer |
AD |
early |
Finnish |
germinal |
Vehmanen (1997) Am. J. Hum. Genet. 60, 1050. |
S |
9502 |
1 |
G |
9730-12T->G |
1 |
loss of splice acceptor site |
breast and ovarian cancer |
AD |
early |
Finnish |
germinal |
Vehmanen (1997) Am. J. Hum. Genet. 60, 1050. |
P |
9411 |
1 |
G |
9639T/G |
2 |
no amino acid change |
|
|
|
Finnish |
germinal |
Vehmanen (1997) Am. J. Hum. Genet. 60, 1050. |
P |
10234 |
1 |
G |
I3412V |
2 |
Ile->Val at codon 3412 |
|
|
|
Finnish |
germinal |
Vehmanen (1997) Am. J. Hum. Genet. 60, 1050. |
FD |
49 |
2 |
|
277delAC |
1 |
frameshift at codon 17 |
male and female breast cancer and ovarian cancer |
AD |
early |
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FD |
754 |
4 |
|
982del4 |
1 |
frameshift at codon 252 |
male and female breast cancer |
AD |
early |
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FD |
4478 |
4 |
|
4706del4 |
1 |
frameshift at codon 1493 |
male and female breast cancer and ovarian cancer |
AD |
early |
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FD |
8297 |
1 |
|
8525delC |
1 |
frameshift at codon 2768 |
male and female breast cancer and ovarian cancer |
AD |
early |
French |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FD |
9026 |
5 |
|
9254del5 |
1 |
frameshift at codon 3009 |
breast cancer |
AD |
early |
French |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FD |
3847 |
2 |
|
4075delGT |
1 |
frameshift at codon 1283 |
male and female breast cancer and ovarian cancer |
AD |
early |
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FD |
5946 |
1 |
|
6174delT |
1 |
frameshift at codon 1982 |
male and female breast cancer |
AD |
early |
Jewish |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FD |
3904 |
3 |
|
4132del3 |
1 |
frameshift at codon 1302 |
male and female breast cancer |
AD |
early |
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
1114 |
1 |
C |
H372N |
14 (37%) |
His->Asn at codon 372 |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
2229 |
1 |
C |
2457T/C |
2 (5%) |
no amino acid change |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
2971 |
1 |
G |
N991D |
3 (8%) |
Asn->Asp at codon 991 |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
3440 |
1 |
G |
N1147S |
6 (15%) |
Asn->Ser at codon 1147 |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
3807 |
1 |
C |
4035T/C |
4 (10%) |
no amino acid change |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
7242 |
1 |
G |
7470A/G |
6 (15%) |
no amino acid change |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
10626 |
1 |
G |
10854A/G |
15 (47%) |
no effect |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
P |
11088 |
1 |
|
11316delT |
7 (19%) |
no effect |
|
|
|
American |
germinal |
Tavtigian (1996) Nat. Genet. 12, 333. |
FI |
3068 |
0 |
A |
3295insA |
1 |
frameshift at codon 1023 |
breast cancer |
AD |
early |
Scottish |
germinal |
Liede (1998) Am. J. Hum. Genet. 62, 1543. |
M |
94 |
1 |
C |
F32L |
1 |
Phe->Leu at codon 32 |
male and female breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
M |
158 |
1 |
G |
K53R |
1 |
Lys->Arg at codon 53 |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
M |
241 |
1 |
C |
F82L |
1 |
Phe->Leu at codon 81 |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
M |
602 |
1 |
G |
P201R |
1 |
Pro->Arg at codon 201 |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
M |
632 |
1 |
C |
V211A |
1 |
Val->Ala at codon 211 |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
M |
664 |
1 |
T |
P222S |
1 |
Pro->Ser at codon 222 |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
FD |
751 |
4 |
|
979del4 |
2 |
frameshift at codon 251 |
breast and gastric cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
S |
7601+5 |
3 |
TCT |
7829+5CCC->TCT |
1 |
loss of splice donor site |
breast and ovarian cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
FD |
7602 |
16 |
|
7830del16 |
1 |
frameshift at codon 2534 |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
N |
8677 |
1 |
T |
Q2893X |
1 |
Gln->Stop at codon 2893 |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
S |
8953+5 |
1 |
T |
9181+5G->T |
1 |
loss of splice donor site |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
M |
9353 |
1 |
C |
M3118T |
1 |
Met->Thr at codon 3118 |
breast and ovarian cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
S |
9502-28 |
1 |
G |
9730-28A->G |
1 |
loss of splice acceptor site |
breast cancer |
AD |
early |
Japanese |
germinal |
Katagiri (1998) J. Hum. Genet. 43, 42. |
FI |
901 |
0 |
G |
1128insG |
1 |
frameshift at codon 301 |
male and female breast cancer |
AD |
early |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
FD |
2810 |
2 |
|
3038delAA |
1 |
frameshift at codon 937 |
male and female breast cancer |
AD |
early |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
FD |
6071 |
1 |
|
6299delA |
1 |
frameshift at codon 2024 |
male and female breast cancer |
AD |
early |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
FD |
7761 |
1 |
|
7989delC |
1 |
frameshift at codon 2587 |
male and female breast cancer and prostatic cancer |
AD |
early |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
N |
581 |
1 |
A |
W194X |
1 |
Trp->Stop at codon 194 |
breast cancer |
AD |
early |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
FD |
5389 |
2 |
|
5617delGC |
1 |
frameshift at codon 1797 |
breast and ovarian cancer |
AD |
late |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
FI |
8437 |
0 |
A |
8664insA |
1 |
frameshift at codon 2813 |
breast and prostatic cancer |
AD |
early |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
D |
8972 |
126 |
|
9200del126 |
1 |
deletion of codons 2992 to 3033 |
breast and ovarian cancer |
AD |
early |
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
1114 |
1 |
A |
H372N |
39 (25%) |
His->Asn at codon 372 |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
2971 |
1 |
G |
N991D |
5 (2%) |
Asn->Asp at codon 991 |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
3440 |
1 |
G |
N1147S |
42 (17%) |
Asn->Ser at codon 1147 |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
3516 |
1 |
A |
3744G/A |
3 (1%) |
no amino acid change |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
5745 |
1 |
T |
M1915T |
13 (5%) |
Met->Thr at codon 1915 |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
6100 |
1 |
T |
R2034C |
4 (2%) |
Arg->Cys at codon 2034 |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
7242 |
1 |
G |
7470A/G |
43 (17%) |
no amino acid change |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
P |
9057 |
1 |
G |
9285A/G |
2 (1%) |
no amino acid change |
|
|
|
American |
germinal |
Couch (1996) Nat. Genet. 13, 123. |
FD |
8537 |
2 |
|
8765delAG |
1 |
frameshift at codon 2846 |
male and female breast, ovarian, colon, prostate, stomach, lung and pancreas cancer |
AD |
early |
French Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
N |
5857 |
1 |
T |
E1953X |
1 |
Glu->Stop at codon 1953 |
breast cancer |
AD |
early |
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
FD |
775 |
2 |
|
1003delAG |
1 |
frameshift at codon 259 |
male and female breast cancer |
AD |
early |
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
FD |
9433 |
2 |
|
9661delGT |
1 |
frameshift at codon 3145 |
breast and pancreatic cancer |
AD |
early |
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
FD |
2806 |
4 |
|
3034delAAAC |
1 |
frameshift at codon 936 |
breast and pancreatic cancer |
AD |
early |
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
P |
1114 |
1 |
A |
H372N |
25 (20%) |
His->Asn at codon 372 |
|
|
|
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
P |
3396 |
1 |
G |
3624A/G |
25 (18%) |
no amino acid change |
|
|
|
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
P |
4563 |
1 |
A |
4791G/A |
1 |
no amino acid change |
|
|
|
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
P |
5744 |
1 |
C |
M1915T |
3 (1%) |
Met->Thr at codon 1915 |
|
|
|
Canadian |
germinal |
Phelan (1996) Nat. Genet. 13, 120. |
FI |
4005 |
0 |
A |
4232insA |
1 |
frameshift at codon 1335 |
male breast cancer |
AD |
late |
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
FD |
49 |
2 |
|
277delAC |
1 |
frameshift at codon 17 |
male breast cancer |
AD |
late |
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
FI |
3641 |
0 |
T |
3868insT |
1 |
frameshift at codon 1214 |
male breast cancer |
AD |
late |
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
FD |
7751 |
1 |
|
7979delG |
1 |
frameshift at codon 2584 |
male breast cancer |
AD |
early |
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
FI |
614 |
0 |
CTTA |
841insCTTA |
1 |
frameshift at codon 205 |
male breast cancer |
AD |
early |
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
FI |
9099 |
0 |
A |
9326insA |
1 |
frameshift at codon 3033 |
male breast cancer |
AD |
early |
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
P |
5744 |
1 |
T |
T1915M |
1 |
Thr->Met at codon 1915 |
|
|
|
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
P |
6841+79 |
4 |
|
7069+79del4 |
2 |
no effect |
|
|
|
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
P |
6853 |
1 |
G |
I2285V |
1 |
Ile->Val at codon 2285 |
|
|
|
Hungarian |
germinal |
Csokay (1999) Cancer Res. 59, 995. |
FD |
69 |
1 |
|
297delT |
1 |
frameshift at codon 23 |
breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
FD |
2806 |
4 |
|
3034del4 |
1 |
frameshift at codon 936 |
breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
FD |
5345 |
2 |
|
5573delAA |
1 |
frameshift at codon 1782 |
breast and ovarian cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
FD |
5718 |
2 |
|
5946delCT |
1 |
frameshift at codon 1906 |
breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
N |
5857 |
1 |
T |
E953X |
1 |
Glu->Stop at codon 953 |
breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
FD |
6203 |
1 |
|
6431delT |
1 |
frameshift at codon 2068 |
breast and ovarian cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
FD |
6644 |
4 |
|
6872del4 |
1 |
frameshift at codon 2215 |
breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
S |
7007 |
1 |
C |
7235G->C |
1 |
skipping of exons12 and 13 |
breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
FI |
7682 |
0 |
T |
7909insT |
1 |
frameshift at codon 2561 |
breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
N |
8140 |
1 |
T |
Q2714X |
1 |
Gln->Stop at codon 2714 |
male and female breast cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
P |
8851 |
1 |
A |
A2951T |
1 |
Ala->Thr at codon 2951 |
|
|
|
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
FI |
9090 |
0 |
A |
9317insA |
1 |
frameshift at codon 3030 |
breast and ovarian cancer |
AD |
early |
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
P |
9292 |
1 |
C |
Y3098H |
1 |
Tyr->His at codon 3098 |
|
|
|
French |
germinal |
Serova-Sinilnikova (1997) Am. J. Hum. Genet. 60, 1236. |
M |
6739 |
1 |
G |
S2247G |
1 |
Ser->Gly at codon 2247 |
male breast cancer |
AD |
late |
English |
germinal |
Mavraki (1997) Br. J. Cancer 76, 1428. |
P |
3396 |
1 |
G |
3624A/G |
12 (21%) |
no amino acid change |
|
|
|
English |
germinal |
Mavraki (1997) Br. J. Cancer 76, 1428. |
FD |
2806 |
4 |
|
3034delAAAC |
1 |
frameshift at codon 936 |
male and female breast cancer |
AD |
early |
Canadian |
germinal |
Wooster (1995) Nature 378, 789. |
FD |
5946 |
1 |
|
6174delT |
1 |
frameshift at codon 1982 |
male and female breast cancer |
AD |
early |
Canadian |
germinal |
Wooster (1995) Nature 378, 789. |
N |
3958 |
1 |
T |
1320X |
1 |
>Stop at codon 1320 |
male breast cancer |
AD |
late |
Swedish |
germinal |
Haraldsson (1998) Cancer Res. 58, 1367. |
FD |
9408 |
1 |
|
9636delT |
1 |
frameshift at codon 3136 |
male and female breast cancer |
AD |
early |
Swedish |
germinal |
Haraldsson (1998) Cancer Res. 58, 1367. |
P |
67+62 |
1 |
G |
295+62T/G |
1 (1%) |
no effect |
|
|
|
Swedish |
germinal |
Haraldsson (1998) Cancer Res. 58, 1367. |
P |
632-69 |
1 |
C |
860-69T/C |
1 (1%) |
no effect |
|
|
|
Swedish |
germinal |
Haraldsson (1998) Cancer Res. 58, 1367. |
P |
8182 |
1 |
A |
V2728I |
1 (1%) |
Val->Ile at codon 2728 |
|
|
|
Swedish |
germinal |
Haraldsson (1998) Cancer Res. 58, 1367. |
S |
276 |
5068 |
CCAT |
504del5068insCCAT |
1 |
skipping of exon 3 |
breast and ovarian cancer |
AD |
early |
Swedish |
germinal |
Nordling (1998) Cancer Res. 58, 1372. |
FD |
5129 |
4 |
|
5357del4 |
1 |
termination at codon 1710 |
male breast cancer |
AD |
late |
Chinese |
germinal |
Friedman (1997) Am. J. Hum. Genet. 60, 313. |
FD |
7025 |
2 |
|
7253del2 |
1 |
frameshift at codon 2342 |
male breast cancer and ovarian cancer |
AD |
late |
American |
germinal |
Friedman (1997) Am. J. Hum. Genet. 60, 313. |
P |
865 |
1 |
C |
N289H |
4 (4%) |
Asn->His at codon 289 |
|
|
|
American |
germinal |
Friedman (1997) Am. J. Hum. Genet. 60, 313. |
FD |
5946 |
1 |
|
6174delT |
1 |
frameshift at codon 1982 |
breast and prostatic cancer |
AD |
early |
Australian |
germinal |
Tesoriero (1999) Am. J. Hum. Genet. 65, 567. |
P |
9976 |
1 |
T |
K3326X |
30 (1%) |
Lys->Stop at codon 3326 |
|
|
|
English |
germinal |
Mazoyer (1996) Nat. Genet. 14, 253. |
P |
9976 |
1 |
T |
K3326X |
3 |
Lys->Stop at codon 3326 |
|
|
|
American |
germinal |
Mazoyer (1996) Nat. Genet. 14, 253. |
P |
9976 |
1 |
T |
K3326X |
1 (1%) |
Lys->Stop at codon 3326 |
|
|
|
Swedish |
germinal |
Haraldsson (1998) Cancer Res. 58, 1367. |
FI |
536 |
0 |
AT |
763insAT |
2 |
frameshift at codon 179 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
755 |
4 |
|
983delACAG |
1 |
frameshift at codon 252 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
N |
2830 |
1 |
T |
K944X |
1 |
Lys->Stop at codon 944 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
3530 |
4 |
|
3758delACAG |
1 |
frameshift at codon 1177 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
3680 |
2 |
|
3908delTG |
1 |
frameshift at codon 1227 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
4478 |
4 |
|
4706delAAAG |
1 |
frameshift at codon 1493 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
5576 |
4 |
|
5804delTTAA |
1 |
frameshift at codon 1859 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
N |
5909 |
1 |
A |
S1970X |
1 |
Ser->Stop at codon 1970 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
5946 |
1 |
|
6174delT |
1 |
frameshift at codon 1982 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FI |
6078 |
0 |
A |
6305insA |
1 |
frameshift at codon 2026 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
8575 |
1 |
|
8803delC |
1 |
frameshift at codon 2859 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
FD |
8904 |
1 |
|
9132delC |
2 |
frameshift at codon 2968 |
breast cancer |
AD |
early |
British |
germinal |
Peto (1999) J. Natl. Cancer Inst. 91, 943. |
N |
5648 |
1 |
A |
S1883X |
1 |
Ser->Stop at codon 1883 |
breast cancer |
AD |
early |
Japanese |
germinal |
Noguchi (1999) Cancer 85, 2200. |
N |
8501 |
1 |
A |
S2834X |
1 |
Ser->Stop at codon 2834 |
breast cancer |
AD |
early |
Japanese |
germinal |
Noguchi (1999) Cancer 85, 2200. |
N |
8677 |
1 |
T |
Q2893X |
1 |
Gln->Stop at codon 2893 |
breast cancer |
AD |
early |
Japanese |
germinal |
Noguchi (1999) Cancer 85, 2200. |
N |
9076 |
1 |
T |
Q3026X |
1 |
Gln->Stop at codon 3026 |
breast cancer |
AD |
early |
Japanese |
germinal |
Noguchi (1999) Cancer 85, 2200. |
FD |
6405 |
5 |
|
6633delCTTAA |
1 |
frameshift at codon 2135 |
breast and ovarian cancer |
AD |
early |
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
S |
475+3 |
1 |
G |
703+3A->G |
1 |
skipping of exon5 |
breast and ovarian cancer |
AD |
early |
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
S |
Jan-55 |
1 |
A |
8983-1G->A |
4 |
skipping of exon 22 and the first 51 bp of exon 23 |
nale and female breast cancer and ovarian cancer |
AD |
early |
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
979 |
1 |
G |
K327E |
2 (1%) |
Lys->Glu at codon 327 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2803 |
1 |
A |
D935N |
1 |
Asp->Asn at codon 935 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2883 |
1 |
A |
3111G/A |
1 |
no amino acid change |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
4258 |
1 |
T |
D1420Y |
5 (2%) |
Asp->Tyr at codon 1420 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6100 |
1 |
T |
R2034C |
1 |
Arg->Cys at codon 2034 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7544 |
1 |
T |
T3015I |
1 |
Thr->Ile at codon 3015 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
426-47 |
1 |
T |
654-47G/T |
1 |
no effect |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7008-62 |
1 |
G |
7236-62A/G |
1 |
no effect |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
322 |
1 |
C |
N108H |
1 |
Asn->His at codon 108 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
865 |
1 |
C |
N289H |
20 (6%) |
Asn->His at codon 289 |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
979 |
1 |
G |
K327G |
2 (1%) |
Lys->Glu at codon 327 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
1114 |
1 |
C |
N372H |
70 (21%) |
Asn->His at codon 372 |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
1287 |
1 |
G |
1515A/G |
1 |
no amino acid change |
|
|
|
Pakistani |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
1365 |
1 |
G |
1593A/G |
18 (6%) |
no amino acid change |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
1744 |
1 |
C |
T582P |
1 |
Thr->Pro at codon 582 |
|
|
|
Central Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2119 |
1 |
T |
D707Y |
1 |
Asp->Tyr at codon 707 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2229 |
1 |
C |
2457T/C |
22 (7%) |
no amino acid change |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2350 |
1 |
G |
M784V |
1 |
Met->Val at codon 784 |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2550 |
1 |
G |
2778A/G |
1 |
no amino acid change |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2657 |
1 |
T |
N886I |
1 |
Asn->Ile at codon 886 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
3858 |
3 |
|
4086delAAA |
1 |
deletion of Leu at codon 1286 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
10091 |
2 |
|
10319delCT |
1 |
frameshift at codon 3364 |
|
|
|
American |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2803 |
1 |
A |
D935N |
1 |
Asp->Asn at codon 935 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2883 |
1 |
A |
3111G/A |
1 |
no amino acid change |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
2971 |
1 |
G |
N991D |
25 (8%) |
Asn->Asp at codon 991 |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
3396 |
1 |
G |
3624A/G |
56 (17%) |
no amino acid change |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
3807 |
1 |
C |
4035T/C |
38 (11%) |
no amino acid change |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
3869 |
1 |
A |
C1290Y |
1 |
Cys->Tyr at codon 1290 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
3966 |
1 |
T |
4194C/T |
1 |
no amino acid change |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
4241 |
1 |
T |
T1414M |
2 (1%) |
Thr->Met at codon 1414 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
4258 |
1 |
T |
D1420Y |
5 (2%) |
Asp->Tyr at codon 1420 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
4537 |
1 |
A |
D1513N |
1 |
Asp->Asn at codon 1513 |
|
|
|
Australian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
4563 |
1 |
A |
4791G/A |
3 (1%) |
no amino acid change |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
4779 |
1 |
C |
E1593D |
1 |
Glu->Asp at codon 1593 |
|
|
|
Pakistani |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
5199 |
1 |
T |
1733C/T |
6 (2%) |
no amino acid change |
|
|
|
European anf Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
5312 |
1 |
A |
G1771D |
1 |
Gly->Asp at codon 1771 |
|
|
|
American |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
5414 |
1 |
G |
N1805S |
1 |
Asn->Ser at codon 1805 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
5640 |
1 |
G |
N1880K |
2 (1%) |
Asn->Lys at codon 1880 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
5704 |
1 |
A |
D1902N |
2 (1%) |
Asp->Asn at codon 1902 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
5744 |
1 |
T |
T1915M |
8 (2%) |
Thr->Met at codon 1915 |
|
|
|
Austrian and Oceanian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6100 |
1 |
T |
R2034C |
1 |
Arg->Cys at codon 2034 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6220 |
1 |
A |
H3074N |
1 |
His->Asn at codon 3074 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6412 |
1 |
T |
V2138F |
1 |
Val->Phe at codon 2138 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6513 |
1 |
G |
6741C/G |
3 (1%) |
no amino acid change |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6821 |
1 |
T |
G2274V |
1 |
Gly->Val at codon 2274 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7242 |
1 |
G |
7470A/G |
42 (13%) |
no amino acid change |
|
|
|
global except American |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7397 |
1 |
T |
A2466V |
3 (1%) |
Ala->Val at codon 2466 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7438 |
1 |
G |
L2480V |
1 |
Leu->Val at codon 2480 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7469 |
1 |
C |
Y2490H |
3 (1%) |
Tyr->His at codon 2490 |
|
|
|
American |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7544 |
1 |
T |
T3015I |
1 |
Thr->Ile at codon 3015 |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8092 |
1 |
A |
R2697H |
1 |
Arg->His at codon 2697 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8830 |
1 |
T |
I2944F |
1 |
Ile->Phe at codon 2944 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8851 |
1 |
A |
A2951T |
1 |
Ala->Thr at codon 2951 |
|
|
|
American |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8905 |
1 |
A |
V2969M |
1 |
Val->Met at codon 2969 |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9237 |
1 |
C |
9465T/C |
1 |
no amino acid change |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9414 |
1 |
G |
9642A/G |
1 |
no amino acid change |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9770 |
1 |
G |
K3257R |
1 |
Lys->Arg at codon 3257 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9828 |
1 |
T |
R3276S |
1 |
Arg->Ser at codon 3276 |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9934 |
1 |
T |
10152C/T |
1 |
no amino acid change |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9976 |
1 |
T |
K3326X |
2 (1%) |
Lys->Stop at codon 3326 |
|
|
|
Austrian and Sardinian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
10234 |
1 |
G |
I3412V |
4 (1%) |
Ile->Val at codon 3412 |
|
|
|
African, Austrian and American |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
67+62 |
1 |
G |
295+62T/G |
1 |
no effect |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
317-22 |
1 |
T |
545-22C/T |
1 |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
426-47 |
1 |
T |
654-47G/T |
1 |
no effect |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
516+18 |
1 |
C |
744+18T/C |
1 |
no effect |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
517-4 |
1 |
G |
745-4C/G |
1 |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
681+56 |
1 |
T |
909+56C/T |
4 (1%) |
no effect |
|
|
|
African, Asian and Oceanian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6841+74 |
1 |
A |
7069+74T/A |
1 |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
6841+74 |
4 |
|
7069+80delTTAA |
56 (17%) |
no effect |
|
|
|
global except American |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7008-62 |
1 |
G |
7236-62A/G |
1 |
no effect |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7435+53 |
1 |
T |
7663+53C/T |
22 (7%) |
no effect |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7602-27 |
1 |
A |
7830-27T/A |
1 |
no effect |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7806-14 |
1 |
C |
8034-14T/C |
8 (2%) |
no effect |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
7976+12 |
1 |
A |
8204+12G/A |
2 (1%) |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8332-66 |
1 |
C |
8560-66T/C |
1 |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8332-64 |
1 |
G |
8560-64A/G |
3 (1%) |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8487+47 |
1 |
T |
8715+47C/T |
3 (1%) |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8755-79 |
1 |
A |
8983-79G/A |
1 |
no effect |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8755-66 |
1 |
C |
8983-66T/C |
37 (11%) |
no effect |
|
|
|
global |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8953+16 |
1 |
T |
9181+16C/T |
1 |
no effect |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
8953+98 |
1 |
C |
9181+98T/C |
2 (1%) |
no effect |
|
|
|
Austrian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9502-71 |
1 |
T |
9730-71G/T |
1 |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9648+54 |
1 |
A |
9876+54G/A |
2 (1%) |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9648+84 |
1 |
A |
9876+84G/A |
1 |
no effect |
|
|
|
Asian |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
P |
9648+106 |
1 |
|
9876+106delT |
1 |
no effect |
|
|
|
African |
germinal |
Wagner (1999) Hum. Mol. Genet. 8, 413. |
FI |
2589 |
0 |
A |
2816insA |
1 |
frameshift at codon 863 |
breast and ovarian cancer |
AD |
early |
French Canadian |
germinal |
Tonin (1998) Am. J. Hum. Genet. 63, 1341. |
N |
5867 |
1 |
T |
E1953X |
1 |
Glu->Stop at codon 1953 |
male and female breast cancer |
AD |
early |
French Canadian |
germinal |
Tonin (1998) Am. J. Hum. Genet. 63, 1341. |
FD |
6275 |
2 |
|
6503delTT |
1 |
frameshift at codon 2092 |
breast cancer |
AD |
early |
French Canadian |
germinal |
Tonin (1998) Am. J. Hum. Genet. 63, 1341. |
FD |
3847 |
2 |
|
4075delGT |
1 |
frameshift at codon 1283 |
breast cancer |
AD |
early |
Welsh |
germinal |
Lancaster (1998) Br. J. Cancer 78, 1417. |
FD |
6059 |
4 |
|
6287del4 |
1 |
frameshift at codon 2020 |
breast cancer |
AD |
early |
Welsh |
germinal |
Lancaster (1998) Br. J. Cancer 78, 1417. |
FI |
898 |
0 |
C |
1125insC |
1 |
frameshift at codon 300 |
ovarian cancer |
AD |
late |
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
FD |
2806 |
4 |
|
3034delAAAC |
1 |
frameshift at codon 936 |
ovarian cancer |
AD |
late |
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
FD |
5722 |
2 |
|
5950delCT |
1 |
frameshift at codon 1908 |
ovarian cancer |
AD |
late |
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
M |
7397 |
1 |
T |
A2486V |
1 |
Ala->Val at codon 2486 |
ovarian cancer |
AD |
late |
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
FI |
1814 |
0 |
A |
2041insA |
1 |
frameshift at codon 605 |
ovarian cancer |
sporadic |
late |
American |
somatic |
Takahashi (1996) Cancer Res. 56, 2738. |
M |
8360 |
1 |
A |
R2787H |
1 |
Arg->His at codon 2787 |
ovarian cancer |
sporadic |
late |
American |
somatic |
Takahashi (1996) Cancer Res. 56, 2738. |
P |
1114 |
1 |
A |
H372N |
29 (11%) |
His->Asn at codon 372 |
|
|
|
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
P |
1375 |
1 |
G |
1593A/G |
1 |
no amino acid change |
|
|
|
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
P |
4656 |
1 |
C |
4884T/C |
3 (1%) |
no amino acid change |
|
|
|
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
P |
5744 |
1 |
T |
T1915M |
16 (6%) |
Thr->Met at codon 1915 |
|
|
|
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
P |
7242 |
1 |
G |
7470A/G |
114 (44%) |
no amino acid change |
|
|
|
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
P |
9649-68 |
4 |
|
9877-68delTTAC |
1 |
no effect |
|
|
|
American |
germinal |
Takahashi (1996) Cancer Res. 56, 2738. |
FD |
767 |
5 |
|
995delCAAAT |
1 |
frameshift at codon 256 |
breast cancer |
AD |
early |
Puerto Rican |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
FD |
1301 |
4 |
|
1529delAAAG |
1 |
frameshift at codon 434 |
male and female breast cancer |
AD |
early |
Dutch |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
FI |
1807 |
0 |
A |
2034insA |
1 |
frameshift at codon 603 |
breast cancer |
AD |
early |
German |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
FD |
2806 |
4 |
|
3034delAAAC |
1 |
frameshift at codon 936 |
male and female breast cancer, ovarian cancer and fallopian tube cancer |
AD |
early |
Irish |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
FD |
6197 |
2 |
|
6425delTT |
1 |
frameshift at codon 1982 |
breast cancer |
AD |
early |
Jewish |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
P |
1788 |
1 |
C |
2016T/C |
1 |
no amino acid change |
|
|
|
American |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
P |
2896 |
1 |
C |
T965P |
1 |
Thr->Pro at codon 965 |
|
|
|
American |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
P |
3392 |
1 |
G |
3620A/G |
1 |
no amino acid change |
|
|
|
American |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
P |
3425 |
1 |
C |
F1141S |
1 |
Phe->Ser at codon 1141 |
|
|
|
American |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
P |
3848 |
1 |
G |
V1282G |
2 (2%) |
Val->Gly at codon 1282 |
|
|
|
American |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
P |
5744 |
1 |
C |
M1915T |
5% |
Met->Thr at codon 1915 |
|
|
|
American |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
P |
6212 |
1 |
T |
S2070I |
1 |
Ser->Ile at codon 2070 |
|
|
|
American |
germinal |
Schubert (1997) Am. J. Hum. Genet. 60, 1031. |
FD |
3638 |
1 |
|
3866delA |
1 |
frameshift at codon 1213 |
ovarian cancer |
sporadic |
ND |
Australian |
somatic |
Foster (1996) Cancer Res. 56, 3622. |
FD |
5575 |
4 |
|
5803delATTA |
1 |
frameshift at codon 1859 |
ovarian cancer |
sporadic |
ND |
Australian |
germinal |
Foster (1996) Cancer Res. 56, 3622. |
FI |
5837 |
0 |
A |
6064insA |
1 |
frameshift at codon 1946 |
ovarian cancer |
sporadic |
ND |
British |
germinal |
Foster (1996) Cancer Res. 56, 3622. |
FD |
9248 |
16 |
|
9476del16 |
1 |
loss of exon 24 splice donor site |
ovarian cancer |
sporadic |
ND |
Australian |
somatic |
Foster (1996) Cancer Res. 56, 3622. |
M |
7015 |
1 |
A |
H2415N |
1 |
His->Asn at codon 2415 |
breast cancer |
sporadic |
early |
Japanese |
somatic |
Miki (1996) Nat. Genet. 13, 245. |
FD |
1265 |
1 |
|
1493delA |
1 |
frameshift at codon 422 |
breast cancer |
sporadic |
ND |
American |
germinal |
Teng (1996) Nat. Genet. 13, 241. |
N |
9976 |
1 |
T |
K3326X |
1 |
Lys->Stop at codon 3326 |
breast cancer |
sporadic |
ND |
American |
germinal |
Teng (1996) Nat. Genet. 13, 241. |
P |
3396 |
1 |
G |
3624A/G |
35% |
no amino acid change |
|
|
|
American |
germinal |
Teng (1996) Nat. Genet. 13, 241. |
P |
5744 |
1 |
T |
T1915M |
3% |
Thr->Met at codon 1915 |
|
|
|
American |
germinal |
Teng (1996) Nat. Genet. 13, 241. |
FD |
25 |
1 |
|
253delC |
1 |
frameshift at codon 9 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
N |
581 |
1 |
A |
W194X |
1 |
Trp->Stop at codon 194 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
1301 |
4 |
|
1529del4 |
1 |
frameshift at codon 434 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
1794 |
5 |
|
2022del5 |
1 |
frameshift at codon 598 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
1929 |
1 |
|
2157delG |
1 |
frameshift at codon 643 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
2806 |
4 |
|
3034del4 |
1 |
frameshift at codon 936 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
4473 |
4 |
|
4701del4 |
1 |
frameshift at codon 1491 |
ovarian cancer |
AD |
ND |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FI |
4805 |
0 |
A |
5032insA |
1 |
frameshift at codon 1602 |
breast and ovarian cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
5345 |
1 |
|
5573delA |
1 |
frameshift at codon 1782 |
ovarian cancer |
AD |
ND |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
5345 |
2 |
|
5573delAA |
1 |
frameshift at codon 1782 |
breast and ovarian cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
N |
5909 |
1 |
A |
S1970X |
1 |
Ser->Stop at codon 1970 |
ovarian cancer |
AD |
ND |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
6275 |
2 |
|
6503delTT |
4 |
frameshift at codon 2092 |
male and female breast cancer and ovarian cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
6402 |
5 |
|
6630del5 |
1 |
frameshift at codon 2134 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
6462 |
2 |
|
6690delTC |
1 |
frameshift at codon 2154 |
breast cancer |
AD |
late |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
6591 |
2 |
|
6819delTG |
1 |
frameshift at codon 2197 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
6829 |
5 |
|
7057del5 |
1 |
frameshift at codon 2277 |
breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
7910 |
5 |
|
8138del5 |
1 |
frameshift at codon 2637 |
breast cancer |
AD |
late |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
FD |
7934 |
1 |
|
8162delG |
1 |
frameshift at codon 2645 |
male and female breast cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
N |
8951 |
1 |
G |
S2984X |
1 |
Ser->Stop at codon 2984 |
male and female cancer and ovarian cancer |
AD |
early |
British |
germinal |
Gayther (1997) Nat. Genet. 15, 103. |
M |
8187 |
1 |
T |
K2729N |
1 |
Lys->Asn at codon 2729 |
hepatocellular carcinoma |
ND |
ND |
Japanese |
germinal |
Katagiri (1996) Cancer Res. 56, 4575. |
M |
964 |
1 |
C |
K322Q |
1 |
Lys->Gln at codon 322 |
hepatocellular carcinoma |
sporadic |
late |
Japanese |
germinal |
Katagiri (1996) Cancer Res. 56, 4575. |
S |
516+39 |
39 |
|
744+39delTTGAGA |
1 |
aberrant splicing |
hepatocellular carcinoma |
sporadic |
ND |
Japanese |
somatic |
Katagiri (1996) Cancer Res. 56, 4575. |
M |
8474 |
1 |
A |
G2901D |
1 |
Gly->Asp at codon 2901 |
ovarian cancer |
AD |
late |
Finnish |
germinal |
Roth (1998) Br. J. Cancer 77, 1199. |
M |
865 |
1 |
C |
N289H |
1 |
Asn->His at codon 289 |
breast and ovarian cancer |
AD |
early |
Spanish |
germinal |
Osorio (1997) Cancer Letters 121, 115. |
FD |
754 |
4 |
|
982del4 |
1 |
frameshift at codon 252 |
male and female breast cancer |
AD |
early |
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
N |
8501 |
1 |
A |
S2834X |
1 |
Ser->Stop at codon 2834 |
breast cancer |
AD |
early |
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
FI |
9247 |
0 |
A |
9474insA |
1 |
frameshift at codon 3083 |
breast cancer |
AD |
early |
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
M |
10244 |
1 |
G |
I3412V |
2 |
Ile->Val at codon 3412 |
breast cancer |
AD |
early |
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
P |
-26 |
1 |
A |
203G/A |
1 |
no effect |
|
|
|
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
P |
2971 |
1 |
G |
N991D |
1 |
Asn->Asp at codon 991 |
|
|
|
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
P |
3396 |
1 |
G |
3624A/G |
1 |
no amino acid change |
|
|
|
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
P |
6029 |
1 |
C |
V2010G |
1 |
Val->Gly at codon 2010 |
|
|
|
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
P |
7242 |
1 |
G |
7470A/G |
1 |
no amino acid change |
|
|
|
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
P |
9117 |
1 |
A |
9345G/A |
1 |
no amino acid change |
|
|
|
Japanese |
germinal |
Inoue (1997) Int. J. Cancer 74, 199. |
FI |
9098 |
0 |
A |
9325insA |
1 |
frameshift at codon 3033 |
breast and ovarian cancer |
AD |
early |
Jewish |
germinal |
Robson (1997) Lanset 350, 117. |
FD |
2806 |
4 |
|
3034delAAAC |
1 |
frameshift at codon 936 |
breast cancer |
AD |
early |
Spanish |
germinal |
Osorio (1997) Cancer Letters 121, 115. |
FD |
9026 |
5 |
|
9254del5 |
1 |
frameshift at codon 3009 |
male and female breast cancer |
AD |
early |
Spanish |
germinal |
Osorio (1997) Cancer Letters 121, 115. |
FI |
2231 |
0 |
T |
2458insT |
1 |
frameshift at codon 744 |
breast and pancreatic cancer |
AD |
late |
Jewish |
germinal |
Goggins (1996) Cancer Res. 56, 5360. |
FI |
5931 |
0 |
T |
6158insT |
1 |
frameshift at codon 1977 |
pancreatic cancer |
sporadic |
late |
American |
germinal |
Goggins (1996) Cancer Res. 56, 5360. |
FD |
2654 |
1 |
|
2882delA |
1 |
frameshift at codon 885 |
breast cancer |
sporadic |
ND |
German |
somatic |
Weber (1996) Am. J. Hum. Genet. 59, 962. |