Mutation data of the BRCA2 gene

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.

*1 Abbreviations are as follows: M, Missense; N, Nonsense; FI, Frameshift Insertion; FD, Frameshift Deletion; S, Splicing; P, Polymorphism; D, Deletion;FID, Frameshift Insertion & Deletion.
*2 Abbreviation is as follows: AD, Autosomal Dominant.






Last updated 29 March 2000