Mutation data of the BRCA1 gene

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case #/Frequency Consequence Disease Hereditary Pattern*2 Onset Ethnic Origin Origin Reference
M 190 1 G C64G 1 Cys->Gly at codon 64 breast and ovarian cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
N 3748 1 T E1250X 1 Glu->Stop at codon 1250 breast and ovarian cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
N 4327 1 T R1443X 1 Arg->Stop at codon 1443 breast and ovarian cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
M 4327 1 G R1443G 1 Arg->Gly at codon 1443 breast cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
FI 5320 1 C 5438insC 1 frameshift at codon 1774 breast and ovarian cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
FD 1175 40   1294del40 1 frameshift at codon 392 breast and ovarian cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
FD 3756 4   3875del4 1 frameshift at codon 1252 breast and ovarian cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
FD 4966 19   5085del19 1 frameshift at codon 1656 breast and ovarian cancer AD early American germinal Castilla (1994) Nat. Genet. 8, 387.
M 181 1 G C61G 2 Cys->Gly at codon 61 breast cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
S 213-11 1 G 332-11T->G 1 termination at codon 75 breast and ovarian cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
FD 2296 2   2415delAG 1 Ser->Stop at codon 766 breast and ovarian cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
FD 2681 2   2800delAA 1 frameshift at codon 894 breast, ovarian and prostatic cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
FD 2744 2   2863delTC 1 Ser->Stop at codon 915 breast and ovarian cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
M 3119 1 A S1040N 1 Ser->Asn at codon 1040 breast cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
N 3607 1 T R1203X 1 Arg->Stop at codon 1203 breast cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
FD 4065 4   4184delTCAA 1 frameshift at codon 1355 breast cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
FI 5559 1 A 5677insA 1 Tyr->Stop at codon 1853 breast cancer AD early American germinal Friedman (1994) Nat. Genet. 8, 399.
P 1067 1 G Q356R   Gln->Arg at codon 356       American germinal Friedman (1994) Nat. Genet. 8, 399.
P 2082 1 T 2201C/T   no amino acid change       American germinal Friedman (1994) Nat. Genet. 8, 399.
P 2311 1 C 2430T/C 33% no amino acid change       American germinal Friedman (1994) Nat. Genet. 8, 399.
P 3113 1 G E1038G 33% Glu->Gly at codon 1038       American germinal Friedman (1994) Nat. Genet. 8, 399.
P 3548 1 G K1183R 33% Lys->Arg at codon 1183       American germinal Friedman (1994) Nat. Genet. 8, 399.
P 4837 1 G S1613G 33% Ser->Gly at codon 1613       American germinal Friedman (1994) Nat. Genet. 8, 399.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast, ovarian, pancreatic, and prostatic cancer and leukemia AD early Canadian germinal Simard (1994) Nat. Genet. 8, 392.
FD 66 2   185delAG 1 frameshift at codon 23 breast and ovarian cancer AD early Canadian germinal Simard (1994) Nat. Genet. 8, 392.
FD 4065 4   4184delTCAA 1 frameshift at codon 1355 breast and ovarian cancer AD early Canadian germinal Simard (1994) Nat. Genet. 8, 392.
FD 1174 40   1293del40 1 frameshift at codon 392 breast and ovarian cancer AD early Canadian germinal Simard (1994) Nat. Genet. 8, 392.
FD 3005 1   3124delA 1 frameshift at codon 1002 breast and ovarian cancer AD early Canadian germinal Simard (1994) Nat. Genet. 8, 392.
FI 1010 1 A 1128insA 1 frameshift at codon 337 breast and ovarian cancer AD early Canadian germinal Simard (1994) Nat. Genet. 8, 392.
M 188 1 A L63X 2 Leu->Stop at codon 63 unilateral breast cancer AD early Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 104 1 A 223G/A   no amino acid change       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 2082 1 T 2201C/T   no amino acid change       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 2311 1 C 2430T/C   no amino acid change       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 3113 1 G E1038G 38% Glu->Gly at codon 1038       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 3548 1 G K1183R 38% Lys->Arg at codon 1183       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 3702 1 G 3821A/G   no amino acid change       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 4291 1 C S1431P 33% Ser->Pro at codon 1431       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 4308 1 C 4427T/C   no amino acid change       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 4837 1 G S1613G 33% Ser->Gly at codon 1613       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
P 4883 1 C M1628T 39% Met->Thr at codon 1628       Japanese germinal Inoue (1995) Cancer Res. 55, 3521.
M 190 1 C C64R 1 Cys->Arg at codon 64 breast cancer AD early Italian germinal Caligo (1996) Oncogene 13, 1483.
M 472 1 T N158Y 1 Asn->Tyr at codon 158 breast and ovarian cancer AD early Italian germinal Caligo (1996) Oncogene 13, 1483.
P 2281 1 C E761Q 6 (10%) Glu->Gln at codon 761       Italian germinal Caligo (1996) Oncogene 13, 1483.
P 2025 1 C 2144A/C 24% no amino acid change       Italian germinal Caligo (1996) Oncogene 13, 1483.
P 2121 1 C 2240T/C 12% no amino acid change       Italian germinal Caligo (1996) Oncogene 13, 1483.
FI 1381 1 A 1499insA 2 frameshift at codon 461 breast and ovarian cancer AD early Italian germinal Caligo (1996) Oncogene 13, 1483.
S 133 4   252delAAgt 1 deletion of exon 3 breast cancer AD early Italian germinal Caligo (1996) Oncogene 13, 1483.
FD 4754 2   4873delCA 1 frameshift at codon 1585 breast cancer AD early Italian germinal Caligo (1996) Oncogene 13, 1483.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early Italian germinal Caligo (1996) Oncogene 13, 1483.
FD 66 2   185delAG 1 frameshift at codon 23 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 124 1   243delA 1 frameshift at codon 42 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
N 220 1 T Q74X 1 Gln->Stop at codon 74 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
S 213-11 1 G 332-11T->G 1 loss of splice acceptor site breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
S 212+3 1 G 331+3A->G 1 loss of splice donor site breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 924 1   1043delC 1 frameshift at codon 308 breast and ovarian cancer AD early French and Dutch germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 1121 1   1240delC 1 frameshift at codon 374 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 1480 16   1599delCAAGAGCGTCCCCTCA 1 frameshift at codon 494 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 1950 1   2069delA 1 frameshift at codon 650 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 2269 1   2388delG 1 frameshift at codon 757 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 3329 1   3448delA 1 frameshift at codon 1110 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 3333 1   3452del4 1 frameshift at codon 1111 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 3481 11   3600del11 3 frameshift at codon 1161 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 3612 1   3731delA 1 frameshift at codon 1204 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 3756 4   3875del4 1 frameshift at codon 1252 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 3843 1   3962delG 1 frameshift at codon 1281 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 3901 2   4020delAG 1 termination at codon 1301 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 4065 4   4184del4 3 frameshift at codon 1355 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 4248 2   4367delTG 1 frameshift at codon 1416 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
N 4327 1 T R1443X 2 Arg->Stop at codon 1443 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 5030 4   5149delCTAA 1 frameshift at codon 1677 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FI 5267 1 C 5382insC 3 frameshift at codon 1756 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
N 5266 1 T Q1756X 1 Gln->Stop at codon 1756 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 140 1 A C47Y 1 Cys->Tyr at codon 47 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 167 1 G K56R 1 Lys->Arg at codon 56 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 3748 1 A E1250K 1 Glu->Lys at codon 1250 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 4036 1 A E1346K 1 Glu->Lys at codon 1346 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 4211 1 G K1404R 1 Leu->Arg at codon 1404 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 5123 1 A A1708E 1 Ala->Glu at codon 1708 breast cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 5252 1 A R1751Q 1 Arg->Gln at codon 1751 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 3296 1 T P1099L 1 Pro->Leu at codon 1099 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
M 4366 1 C I1456L 1 Ile->Leu at codon 1456 breast and ovarian cancer AD early French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
P 1927 1 G S643G 1 Ser->Gly at codon 643       French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
P 3024 1 A M1008I 1 Met->Ile at codon 1008       French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
P 981 1 G 1100A/G 1 no amino acid change       French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
P 4039 1 G R1347G 1 Arg->Gly at codon 1347       French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
P 4535 1 T S1512I 2 Ser->Ile at codon 1512       French germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
N 3937 1 T Q1313X 1 Gln->Stop at codon 1313 breast and ovarian cancer AD early American germinal Miki (1994) Science 266, 66.
M 5324 1 G M1775R 1 Met->Arg at codon 1775 breast and ovarian cancer AD early African American germinal Miki (1994) Science 266, 66.
S 212+2 1 C 331+2T->C 1 loss of splice donor site breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
N 505 1 T Q169X 1 Gln->Stop at codon 169 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 797 2   916delTT 1 frameshift at codon 266 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FI 1102 1 C 1220insC 1 frameshift at codon 368 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 1175 40   1294del40 3 frameshift at codon 392 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
N 1916 1 A L639X 1 Leu->Stop at codon 639 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 1954 1   2073delA 1 frameshift at codon 652 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 3002 1   3121delA 1 frameshift at codon 1001 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
M 3239 1 A L1080X 1 Leu->Stop at codon 1080 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 3333 4   3452delAGAA 2 frameshift at codon 1111 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 3756 4   3875del4 1 frameshift at codon 1252 ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 3867 2   3986delAA 1 frameshift at codon 1289 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 4065 4   4184delTCAA 2 frameshift at codon 1355 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
S 4185 1 A 4304G->A 2 aberrant splicing breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
N 4327 1 T R1443X 3 Arg->Stop at codon 1443 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
S 4357+6 1 C 4476+6T->C 1 loss of splice donor site breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
S 5152+1 1 T 5271+1G->T 1 loss of splice donor site breast cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
N 5179 1 T K1727X 1 Lys->Stop at codon 1727 breast cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
S 5193+2 1   5312+2delT 1 loss of splice donor site breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
FD 5510 1   5629delG 1 frameshift at codon 1837 breast and ovarian cancer AD early English germinal Gayther (1995) Nat. Genet. 11, 428.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
N 1058 1 A W353X 1 Trp->Stop at codon 353 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
FD 1082 11   1201del11 2 frameshift at codon 361 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
FD 1556 1   1675delA 1 frameshift at codon 519 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
N 1687 1 T Q563X 3 Gln->Stop at codon 563 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
FD 2282 2   2401delAA 1 frameshift at codon 761 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
FD 2475 1   2594delC 4 frameshift at codon 825 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
FD 3710 1   3829delT 1 frameshift at codon 1237 ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
S 5153-1 1 C 5272-1G->C 1 loss of splice acceptor site breast cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
FI 3048 5 TGAGA 3166insTGAGA 2 frameshift at codon 1016 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
N 3607 1 T R1203X 1 Arg->Stop at codon 1203 breast and ovarian cancer AD early Swedish germinal Hakansson (1997) Am. J. Hum. Genet. 60, 1068.
FI 1381 1 A 1499insA 2 frameshift at codon 461 ovarian cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FD 2529 1   2648delA 1 frameshift at codon 843 ovarian cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
P 2319 1 C 2438T/C 1 no amino acid change       Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FD 3930 1   4049delA 1 frameshift at codon 1310 breast cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FI 1242 1 A 1360insA 1 frameshift at codon 414 ovarian cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
P 1262 1 G E421G 1 Glu->Gly at codon 421       Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FD 2724 5   2843delAAATC 1 frameshift at codon 908 breast and ovarian cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FD 3793 1   3912delA 1 frameshift at codon 1265 breast cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FI 3872 1 C 3990insC 1 frameshift at codon 1291 breast cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FI 1266 1 A 1384insA 1 frameshift at codon 422 breast and ovarian cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FD 3916 2   4035delTT 1 frameshift at codon 1306 breast cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FI 828 1 T 946insT 1 frameshift at codon 276 breast cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
FI 2660 1 A 2778insA 1 frameshift at codon 887 breast cancer AD early Italian germinal De Benedetti (1996) Oncogene 13, 1353.
N 1529 1 G S510X 1 Ser->Stop at codon 510 breast cancer AD early Swiss germinal Garvin (1996) J. Med. Genet. 33, 721.
FD 1492 1   1611delC 1 frameshift at codon 498 breast cancer AD early Swiss germinal Garvin (1996) J. Med. Genet. 33, 721.
FI 3330 1 A 3448insA 1 frameshift at codon 1110 breast cancer AD early Swiss germinal Garvin (1996) J. Med. Genet. 33, 721.
N 1687 1 T Q563X 1 Gln->Stop at codon 563 ovarian cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
FD 4962 19   5081del19 1 frameshift at codon 1654 ovarian cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
FD 843 4   962delCTCA 1 frameshift at codon 281 ovarian cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
FI 3255 1 A 3373insA 1 frameshift at codon 1085 breast and ovarian cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
M 116 1 A C39Y 1 Cys->Tyr at codon 39 breast and ovarian cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
N 2309 1 A S770X 1 Ser->Stop at codon 770 breast cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
FD 2727 4   2846delTCAA 1 frameshift at codon 909 ovarian cancer AD early Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
FD 66 1   185delAG 1 frameshift at codon 22 breast and ovarian cancer AD early Scottish germinal Shattuck-Eidens (1995) JAMA 273, 535.
P 547-57 1   666-57delT 1 no effect       Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
P 3119 1 A S1040N 1 Ser->Asn at codon 1040       Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
P 3113 1 G E1038G 1 Glu->Gly at codon 1038       Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
P 4837 1 G S1613G 1 Ser->Gly at codon 1613       Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
P 4987-68 1 A 5106-68G/A 1 no effect       Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
P 5152+63 1 A 5271+63G/A 1 no effect       Italian germinal Santarosa (1998) Int. J. Cancer 78, 581.
FD 66 2   185delAG 1 frameshift at codon 23 breast and ovarian cancer AD early Jewish germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FD 69 11   188del11 1 frameshift at codon 23 breast cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FD 111 2   230delAA 1 frameshift at codon 37 breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
S 212+1 1 A 331+1G->A 1 loss of splice donor site breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
S 213-11 1 G 332-11T->G 1 loss of splice acceptor site breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FD 929 1   1048delA 1 frameshift at codon 310 breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
N 1576 1 T E526X 1 Glu->Stop at codon 526 breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FD 2296 2   2415delAG 1 termination at codon 766 breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
N 2681 2   2800delAA 1 frameshift at codon 894 breast, ovarian and prostatic cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FD 2744 2   2863delTC 1 termination at codon 915 breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
M 3119 1 A S1040N 1 Ser->Asn at codon 1040 breast cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
N 3607 1 T R1203X 1 Arg->Stop at codon 1203 breast cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FD 4065 4   4184delTCAA 2 frameshift at codon 1355 breast cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
N 4327 1 T R1443X 1 Arg->Stop at codon 1443 breast and ovarian cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FI 5559 1 A 5677insA 1 termination at codon 1853 breast cancer AD early American germinal Friedman (1995) Am. J. Hum. Genet. 57, 1284.
FI 69 1 A 187insA 1 frameshift at codon 23 unilateral breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
FD 675 1   794delT 1 frameshift at codon 225 bilateral breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
N 1621 1 T Q541X 1 Gln->Stop at codon 541 unilateral breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
N 1687 1 T Q563X 1 Gln->Stop at codon 563 unilateral breast cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
FD 3481 11   3600del11 1 frameshift at codon 1161 unilateral breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
N 3661 1 T E1221X 1 Glu->Stop at codon 1221 unilateral breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
FD 4065 4   4184del4 1 termination at codon 1355 breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
FD 4163 2   4282delAG 1 frameshift at codon 1388 breast cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
N 4222 1 T Q1408X 1 Gln->Stop at codon 1408 unilateral breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
N 5153 1 A W1718X 1 Trp->Stop at codon 1718 breast cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 unilateral breast, ovarian and cervical cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
FD 5314 1   5433delT 1 frameshift at codon 1772 breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
N 5503 1 T R1835X 2 Arg->Stop at codon 1835 breast and ovarian cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
S 5152+1 1 C 5271+1G->C 1 loss of splice donor site unilateral breast cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
S 5278-1 1 T 5397-1G->T 1 loss of splice acceptor site breast cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast cancer AD early German germinal Dong (1998) Hum. Genet. 103, 154.
P 716 1 G H239R 1 His->Arg at codon 239       German germinal Dong (1998) Hum. Genet. 103, 154.
P 2521 1 T R841W 1 Arg->Trp at codon 841       German germinal Dong (1998) Hum. Genet. 103, 154.
P 4535 1 T S1521I 3 Ser->Ile at codon 1512       German germinal Dong (1998) Hum. Genet. 103, 154.
P 213-12 1 G 332-12A/G 1 intron polymorphism       German germinal Dong (1998) Hum. Genet. 103, 154.
P 442-34 1 T 561-34C/T 2 intron polymorphism       German germinal Dong (1998) Hum. Genet. 103, 154.
P 547-64 1   666-64delT 2 intron polymorphism       German germinal Dong (1998) Hum. Genet. 103, 154.
P 5074+67 1 A 5193+67G/A 1 intron polymorphism       German germinal Dong (1998) Hum. Genet. 103, 154.
FD 66 2   185delAG 10 frameshift at codon 22 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
M 181 1 G C61G 2 Cys->Gly at codon 61 breast cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
M 191 1 A C64G 1 Cys->Gly at codon 64 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 69 11   188del11 1 frameshift at codon 23 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 1010 1 A 1128insA 1 frameshift at codon 337 breast and ovarian cancer AD early Canadian germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 1082 11   1201del11 1 termination at codon 361 breast and ovarian cancer AD early Swedish germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 1175 40   1294del40 1 frameshift at codon 392 breast and ovarian cancer AD early Canadian germinal Shattuck-Eidens (1995) JAMA 273, 535.
N 1687 1 T Q563X 1 Gln->Stop at codon 562 breast and ovarian cancer AD early Swedish germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 1962 1 A 2080insA 1 frameshift at codon 654 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 2175 1   2294delG 1 frameshift at codon 725 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 2296 2   2415delAG 1 termination at codon 766 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
M 2477 1 A T826K 1 Thr->Lys at codon 826 breast and ovarian cancer AD early Canadian germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 2358 1   2477delC 2 frameshift at codon 826 breast and ovarian cancer AD early Swedish germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 2681 1   2800delA 1 frameshift at codon 894 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 2744 2   2863delTC 1 frameshit at codon 915 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 2863 5   2982del5 1 frameshift at codon 955 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 3002 1   3121delA 1 frameshift at codon 1001 breast and ovarian cancer AD early Canadian germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 3048 5 TGAGA 3166insTGAGA 2 frameshift at codon 1016 breast and ovarian cancer AD early Swedish germinal Shattuck-Eidens (1995) JAMA 273, 535.
N 3607 1 T R1203X 1 Arg->Stop at codon 1203 breast cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
N 3748 1 T E1250X 1 Glu->Stop at codon 1250 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 3756 4   3875del4 1 frameshift at codon 1252 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 3777 1   3896delT 1 frameshift at codon 1259 breast and ovarian cancer AD early English germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 3867 2   3986delAA 1 frameshift at codon 1289 breast and ovarian cancer AD early English germinal Shattuck-Eidens (1995) JAMA 273, 535.
N 3937 1 T Q1313X 1 Gln->Stop at codon 1313 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 4065 4   4184del4 1 frameshift at codon 1355 breast and ovarian cancer AD early Canadian germinal Shattuck-Eidens (1995) JAMA 273, 535.
M 4327 1 G R1443G 1 Arg->Gly at codon 1443 breast cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
N 4327 1 T R1443X 1 Arg->Stop at codon 1443 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
N 4621 1 T E1541X 1 Glu->Stop at codon 1541 breast cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
M 4910 1 T P1637L 1 Pro->Leu at codon 1637 ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 4966 19   5085del19 1 frameshift at codon 1656 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
M 5123 1 A A1708G 1 Ala->Glu at codon 1708 breast cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 5267 1 C 5382insC 3 frameshift at codon 1756 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
M 5324 1 G M1775R 2 Met->Arg at codon 1775 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 5559 1 A 5677insA 1 frameshift at codon 1853 breast cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
P 591 1 T 710C/T 2 no amino acid change       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 1067 1 G Q356R 30 (6%) Gln->Arg at codon 356       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2077 1 A D693N 3 Asp->Asn at codon 693       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2082 1 T 2201C/T 27 (27%) no amino acid change       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2311 1 C 2430T/C 28 (30%) no amino acid change       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2521 1 T R841W 2 Arg->Trp at codon 841       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2612 1 C L871P 19 (23%) Leu->Pro at codon 871       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
M 3024 1 A M1008I 1 Met->Ile at codon 1008 breast cancer AD early American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 3113 1 G E1038G 20 (24%) Glu->Gly at codon 1038       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 3119 1 A S1040N 3 Ser->Asn at codon 1040       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 3548 1 G K1183R 107 (32%) Lys->Arg at codon 1183       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
M 3657 1 C E1219D 1 Glu->Asp at codon 1219 breast cancer AD early American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
M 4039 1 G R1347G 1 Arg->Gly at codon 1347 breast cancer AD early American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 4090-141 1 A 4209-141C/A 52 (31%) no effect       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 4308 1 T 4427C/T 127 (31%) no amino acid change       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
M 4682 1 T T1561I 1 Thr->Ile at codon 1561 breast cancer AD early American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 4837 1 G S1613G 164 (32%) Ser->Gly at codon 1613       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
M 4882 1 G M1628V 1 Met->Val at codon 1628 breast cancer AD early American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 5152+66 1 G 5271+66A/G 115 (34%) no effect       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
N 2263 1 T E755X 1 Glu->Stop at codon 755 breast and ovarian cancer AD early Hungarian germinal Ramus (1997) Am. J. Hum. Genet. 60, 1242.
FI 1291 1 T 1409insT 1 frameshift at codon 431 breast cancer AD early Dutch germinal Hogervorst (1995) Nat. Genet. 10, 208.
FD 2193 5   2312del5 1 frameshift at codon 731 breast cancer AD early Dutch germinal Hogervorst (1995) Nat. Genet. 10, 208.
N 2338 1 T Q780X 2 Gln->Stop at codon 780 breast cancer AD early Dutch germinal Hogervorst (1995) Nat. Genet. 10, 208.
FI 3819 1 G 3937insG 1 frameshift at codon 1273 breast cancer AD early Dutch germinal Hogervorst (1995) Nat. Genet. 10, 208.
FD 1010 1   1129delA 1 frameshift at codon 337 breast cancer AD early Dutch germinal Hogervorst (1995) Nat. Genet. 10, 208.
FD 1317 1   1436delT 1 frameshift at codon 439 breast cancer AD early Dutch germinal Hogervorst (1995) Nat. Genet. 10, 208.
M 65 1 C L22S 1 Leu->Ser at codon 22 breast and ovarian cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
N 65 1 G L22X 1 Leu->Stop at codon 22 breast and uterus cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
S 547-62 1   666-62del1 3 loss of splice acceptor site breast and esophageal cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
S 547-2 1   666-2G->A 1 loss of splice acceptor site breast cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
M 1381 1 C F461L 1 Phe->Leu at codon 461 breast and gastric cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
M 1393 1 G Y465D 1 Tyr->Asp at codon 465 breast cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
M 1655 1 T G552V 1 Gly->Val at codon 552 breast cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
M 2675 1 C L892S 1 Leu->Ser at codon 892 breast cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
M 2879 1 A G960D 1 Gly->Asp at codon 960 breast cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
M 3074 1 T T1025I 1 Thr->Ile at codon 1025 breast cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
M 3140 1 C V1047A 1 Val->Ala at codon 1047 breast cancer AD early Japanese germinal Katagiri (1998) J. Hum. Genet. 43, 42.
N 2389 1 T E797X 1 Glu->Stop at codon 797 breast cancer AD early Scottish germinal Liede (1998) Am. J. Hum. Genet. 62, 1544.
P 4308 1 C 4427T/C 5 no amino acid change       American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
FD 981 2   1100del2 1 frameshift at codon 981 breast cancer AD early American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
N 1687 1 T Q563X 1 Gln->Stop at codon 563 breast cancer AD early American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
M 4816 1 G K1606E 1 Lys->Glu at codon 1606 breast cancer AD early American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
P 2082 1 T 2201C/T 6 no amino acid change       American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
P 2311 1 C 2430T/C 11 no amino acid change       American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
P 2612 1 T P871L 12 Pro->Leu at codon 871       American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
P 3113 1 G E1038G 10 Glu->Gly at codon 1038       American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
P 3548 1 G K1183R 8 Lys->Arg at codon 1183       American germinal FitzGerald (1996) N. Engl. J. Med. 334, 143.
FD 69 11   188del11 1 frameshift at codon 23 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
FD 797 2   916delTT 1 frameshift at codon 266 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
N 1576 1 T Q526X 1 Gln->Stop at codon 526 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
N 2722 1 T E908X 1 Glu->Stop at codon 908 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
FD 3479 11   3598del11 1 frameshift at codon 1160 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
FD 3700 5   3819del5 1 frameshift at codon 1234 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
N 4689 1 G Y1563X 1 Tyr->Stop at codon 1563 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
N 5503 1 T R1835X 1 Arg->Stop at codon 1835 breast and ovarian cancer AD early French germinal Serova (1996) Am. J. Hum. Genet. 58, 42.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast and ovarian cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
S 212+1 1 A 331+1G->A 1 loss of splice donor site breast cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
FD 843 4   962delCTCA 1 frameshift at codon 281 breast cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
FI 1017 1 A 1135insA 1 frameshift at codon 339 breast and ovarian cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
N 1687 1 T Q563X 1 Gln->Stop at codon 563 breast cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
FD 2676 4   2795delAAAG 1 frameshift at codon 892 breast and ovarian cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
FD 3016 4   3135delCATT 1 frameshift at codon 1006 breast and ovarian cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
N 3257 1 G L1086X 1 Leu->Stop at codon 1086 breast cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
N 4183 1 T T1395X 1 Thr->Stop at codon 1395 breast and ovarian cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
N 5251 1 T K1751X 1 Lys->Stop at codon 1751 breast cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
P 1865 1 T A622V 1 Ala->Val at codon 622       Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
P 2690 1 T P897L 1 Pro->Leu at codon 897       Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
P 3289 1 C S1097R 1 Ser->Arg at codon 1097       Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
P 4039 1 G R1347G 1 Arg->Gly at codon 1347       Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
P 4535 1 T S1512I 1 Ser->Ile at codon 1512       Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
P 4556 1 G N1519S 1 Asn->Ser at codon 1519       Austrian germinal Wagner (1998) Int. J. Cancer 77, 354.
N 3389 1 G S1130X 1 Ser->Stop at codon 1130 breast and ovarian cancer AD early American germinal Plummer (1995) Hum. Mol. Genet. 4, 1989.
FD 2475 1   2594delC 1 frameshift at codon 825 breast and larynx cancer AD early American germinal Plummer (1995) Hum. Mol. Genet. 4, 1989.
FD 1713 5   1832del5 2 frameshift at codon 571 breast and ovarian cancer AD early African American germinal Gao (1997) Am. J. Hum. Genet. 60, 1233.
FD 5177 4   5296del4 2 frameshift at codon 1726 breast and ovarian cancer AD early African American germinal Gao (1997) Am. J. Hum. Genet. 60, 1233.
FI 3765 1 A 3883insA 1 frameshift at codon 1255 breast cancer AD early African American germinal Gao (1997) Am. J. Hum. Genet. 60, 1233.
S 212+3 1 G 331+3A->G 1 deletion of nucleotides 191 to 212 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 1016 1   1135delA 1 frameshift at codon 339 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FI 1017 1 A 1135insA 1 frameshift at codon 339 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 1121 1   1240delC 1 frameshift at codon 374 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FI 1288 1 A 1406insA 2 frameshift at codon 430 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FI 1293 1 T 1411insT 1 frameshift at codon 431 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 1319 1   1438delT 1 frameshift at codon 440 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 1504 5   1623del5 1 frameshift at codon 502 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 2021 1   2140delC 1 frameshift at codon 674 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 2193 5   2312del5 1 frameshift at codon 732 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FID 3549 2 T 3668AG->T 1 frameshift at codon 1183 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 2685 2   2804delAA 1 frameshift at codon 895 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
N 2722 1 T E908X 3 Glu->Stop at codon 908 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 2727 4   2846del4 1 frameshift at codon 909 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FI 2991 2 AA 3109insAA 2 frameshift at codon 998 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 3485 1   3604delA 1 frameshift at codon 1162 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
N 3640 1 T E1214X 1 Glu->Stop at codon 1214 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
N 3661 1 T E1221X 1 Glu->Stop at codon 1221 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
N 3748 1 T E1250X 1 Glu->Stop at codon 1250 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 3756 4   3875del4 1 frameshift at codon 1252 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FI 3821 1 G 3939insG 1 frameshift at codon 1274 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
N 3841 1 T Q1281X 1 Gln->Stop at codon 1281 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 5270 7   5389del7 1 frameshift at codon 1757 breast and ovarian cancer AD early Dutch germinal Peelen (1997) Am. J. Hum. Genet. 60, 1041.
FD 1805 1   1924delA 1 frameshift at codon 602 breast and ovarian cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
FD 2685 1   2804delAA 1 frameshift at codon 895 breast and ovarian cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
FD 3485 1   3604delA 1 frameshift at codon 1162 breast and ovarian cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
FD 3625 1   3744delT 1 frameshift at codon 1209 breast, ovarian and stomach cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
N 3785 1 A S1262X 1 Ser->Stop at codon 1262 breast and ovarian cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
S 4090-2 1 G 4209-2A->G 1 loss of splice acceptor site breast cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
N 4327 1 T R1443X 1 Arg->Stop at codon 1443 breast cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
FD 5026 11   5145del11 1 frameshift at codon 1676 breast cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
N 5251 1 T R1751X 1 Arg->Stop at codon 1751 breast and ovarian cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast, ovarian and skin cancer AD early Finnish germinal Vehmanen (1997) Hum. Mol. Genet. 6, 2309.
FD 3756 4   3875del4 1 frameshift at codon 1252 breast cancer AD early American germinal Langston (1996) N. Engl. J. Med. 334, 137.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast cancer AD early American germinal Langston (1996) N. Engl. J. Med. 334, 137.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast cancer AD early American germinal Langston (1996) N. Engl. J. Med. 334, 137.
N 4183 1 T Q1395X 1 Gln->Stop at codon 1395 breast cancer AD early American germinal Langston (1996) N. Engl. J. Med. 334, 137.
FD 4065 4   4184del4 1 frameshift at codon 1355 breast and ovarian cancer AD early American germinal Langston (1996) N. Engl. J. Med. 334, 137.
P 4039 1 G R1347G 2 Arg->Gly at codon 1347       American germinal Langston (1996) N. Engl. J. Med. 334, 137.
P 53 1 C M18T 1 Met->Thr at codon 18       American germinal Langston (1996) N. Engl. J. Med. 334, 137.
FD 3756 4   3875del4 1 frameshift at codon 1252 ovarian cancer AD not described Russian germinal Gayther (1997) Am. J. Hum. Genet. 60, 1239.
FD 1954 1   2073delA 1 frameshift at codon 652 ovarian cancer AD not described Russian germinal Gayther (1997) Am. J. Hum. Genet. 60, 1239.
FD 4034 1   4153delA 1 frameshift at codon 1345 ovarian cancer AD not described Russian germinal Gayther (1997) Am. J. Hum. Genet. 60, 1239.
P 4883 1 C M1628T 1 Met->Thr at codon 1628       Russian germinal Gayther (1997) Am. J. Hum. Genet. 60, 1239.
N 5080 1 T E1694X 1 skipping of exon18 breast and ovarian cancer AD early Canadian germinal Mazoyer (1998) Am. J. Hum. Genet. 62, 713.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast and ovarian cancer AD early American germinal Struewing (1995) Am. J. Hum. Genet. 57, 1.
FD 1175 40   1294del40 1 fraemshift at codon 392 breast and ovarian cancer AD early American germinal Struewing (1995) Am. J. Hum. Genet. 57, 1.
FD 1204 1   1323delG 1 frameshift at codon 402 breast and ovarian cancer AD early American germinal Struewing (1995) Am. J. Hum. Genet. 57, 1.
FD 3481 11   3600del11 1 fraemshift at codon 1161 breast and ovarian cancer AD early American germinal Struewing (1995) Am. J. Hum. Genet. 57, 1.
FD 5137 1   5256delG 1 frameshift at codon 1713 breast and ovarian cancer AD early American germinal Struewing (1995) Am. J. Hum. Genet. 57, 1.
M 5138 1 C V1713A 1 Val->Ala at codon 1713 breast, ovarian and colon cancer AD early American germinal Struewing (1995) Am. J. Hum. Genet. 57, 1.
FI 33 1 C 151insC 1 frameshift at codon 11 ovarian cancer sporadic early American somatic Merajver (1995) Nat. Genet. 9, 439.
M 181 1 G C61G 1 Cys->Gly at codon 61 ovarian cancer sporadic early American somatic Merajver (1995) Nat. Genet. 9, 439.
N 5173 1 T E1725X 1 Glu->Stop at codon 1725 ovarian cancer sporadic late American somatic Merajver (1995) Nat. Genet. 9, 439.
FI 5384 1 T 5502insT 1 frameshift at codon 1795 ovarian cancer sporadic late American somatic Merajver (1995) Nat. Genet. 9, 439.
P 3427 1 G S1143G 1 Ser->Gly at codon 1143       American somatic Merajver (1995) Nat. Genet. 9, 439.
P 1067 1 G Q356Ｒ 8 Gln->Arg at codon 356       American somatic Merajver (1995) Nat. Genet. 9, 439.
FI 1018 1 A 1136insA 1 frameshift at codon 340 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
FD 1175 40   1294del40 1 frameshift at codon 392 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
FD 3756 4   3875delGTCT 3 frameshift at codon 1252 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
FI 3822 1 G 3940insG 1 frameshift at codon 1274 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
FD 4034 1   4153delA 3 frameshift at codon 1345 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
FD 4065 4   4184delTCAA 2 frameshift at codon 1355 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
M 5246 1 G P1749R 1 Pro->Arg at codon 1749 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
FI 5267 1 C 5382insC 10 frameshift at codon 1756 breast and ovarian cancer AD early English germinal Gayther (1996) Am. J. Hum. Genet. 58, 451.
FD 4034 1   4153delA 1 frameshift at codon 1345 breast and ovarian cancer AD early Polish germinal Sobczak (1997) Oncogene 15, 1773.
N 5346 1 A W1782X 1 Trp->Stop at codon 1782 breast cancer AR early Polish germinal Sobczak (1997) Oncogene 15, 1773.
P 314 1 G Y105C 1 Tyr->Cys at codon 105       Polish germinal Sobczak (1997) Oncogene 15, 1773.
P 5277+49 12 GTATTCCACTCC 5396+48dupGTATTCCACTCC 5 intron polymorphism       Polish germinal Sobczak (1997) Oncogene 15, 1773.
P 442-34 1 T 561-34C/T 104 (22%) intron polymorphism       Polish germinal Sobczak (1997) Oncogene 15, 1773.
P 1134 1 T 1253C/T 1 no amino acid change       Polish germinal Sobczak (1997) Oncogene 15, 1773.
P 80+37 1 C 199+37T/C 1 intron polymorphism       Polish germinal Sobczak (1997) Oncogene 15, 1773.
P 5277+49 12 GTATTCCACTCC 5396+48dupGTATTCCACTCC 2 intron polymorphism       American germinal Langston (1996) Am. J. Hum. Genet. 58, 881.
P 3418 1 G S1140G 1 Ser->Gly at codon 1140       American germinal Langston (1996) Am. J. Hum. Genet. 58, 881.
FD 66 2   185delAG 1 frameshift at codon 22 prostatic cancer AD late American germinal Langston (1996) Am. J. Hum. Genet. 58, 881.
S 213-12 1 A 332-12G->A 1 frameshift insertion of TTTAATTTCAG between exons 5 and 6 of cDNA breast, ovarian and colon cancer AD early American germinal Hoffman (1998) Am. J. Med. Genet. 80, 140.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
FD 1082 11   1201del11 1 frameshift at codon 361 breast and ovarian cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
FD 1556 1   1675delA 1 frameshift at codon 519 breast and ovarian cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
N 1687 1 T Q563X 1 Gln->Stop at codon 563 breast and ovarian cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
FD 2282 2   2401delAA 1 frameshift at codon 761 breast and ovarian cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
FD 2475 1   2594delC 1 frameshift at codon 826 breast and ovarian cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
FI 3048 5 TGAGA 3166insTGAGA 1 frameshift at codon 1016 breast and ovarian cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
FD 3710 1   3829delT 1 frameshift at codon 1237 ovarian cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
S 5153-1 1 C 5272-1G->C 1 loss of splice acceptor site breast cancer AD early Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
P 3114 1 G 3233A/G 1 no amino acid change       Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
P 3119 1 A S1040N 1 Ser->Asn at codon 1040       Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
P 4039 1 G R1347G 1 Arg->Gly at codon 1347       Swedish germinal Johannsson (1996) Am. J. Hum. Genet. 58, 441.
N 1687 1 T Q563X 1 Gln->Stop at codon 563 breast cancer     German germinal Hamann (1997) J. Med. Genet. 34, 884.
FD 4163 2   4282delAG 1 frameshift at codon 1388 breast cancer AD early German germinal Hamann (1997) J. Med. Genet. 34, 884.
S 5278-1 1 T 5397-1G->T 1 loss of splice acceptor site breast cancer AD early German germinal Hamann (1997) J. Med. Genet. 34, 884.
P 4535 1 T S1512I 4 Ser->Ile at codon 1512   AD early German germinal Hamann (1997) J. Med. Genet. 34, 884.
FI 67 1 A 185insA 1 frameshift at codon 23 ovarian cancer sporadic not described Japanese germinal Matsushima (1995) Hum. Mol. Genet. 4, 1953.
FD 2192 4   2311del4 1 frameshift at codon 731 ovarian cancer AD early Japanese germinal Matsushima (1995) Hum. Mol. Genet. 4, 1953.
N 3607 1 T R1203X 1 Arg->Stop at codon 1203 breast and ovarian cancer AD early Japanese germinal Matsushima (1995) Hum. Mol. Genet. 4, 1953.
S 5407+32 1 T 5526+32A->T 1 skipping of exon 22 ovarian cancer sporadic not described Japanese germinal Matsushima (1995) Hum. Mol. Genet. 4, 1953.
S 5407+5 1 A 5526+5G->A 1 skipping of exon 22 breast and ovarian cancer AD early Dutch germinal Petrij-Bosch (1997) Nat. Genet. 17, 341.
FD 5333-38 510   5452-38del510 1 deletion of exon 22 breast and ovarian cancer AD early Dutch germinal Petrij-Bosch (1997) Nat. Genet. 17, 341.
FD 3700 5   3819del5 1 frameshift at codon 1234 breast and ovarian cancer AD early American germinal Serova (1997) Am. J. Hum. Genet. 60, 486.
FI 4595 2 TC 4713insTC 1 frameshift at codon 1532 breast and ovarian cancer AD early American germinal Serova (1997) Am. J. Hum. Genet. 60, 486.
M 190 1 G C64G 1 Cys->Gly at codon 64 breast cancer AD early American germinal Serova (1997) Am. J. Hum. Genet. 60, 486.
FD 676 1   795delT 1 frameshift at codon 226 breast cancer AD early American germinal Serova (1997) Am. J. Hum. Genet. 60, 486.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast cancer AD early American germinal Serova (1997) Am. J. Hum. Genet. 60, 486.
S 213-11 1 G 332-11T->G 1 loss of splice acceptor site breast cancer AD early American germinal Serova (1997) Am. J. Hum. Genet. 60, 486.
FD 1582 7   1701delACTCCTG 1 frameshift at codon 528 breast and ovarian cancer AD early Pakistani germinal Moslehi (1998) Am. J. Med. Genet. 78, 386.
FD 66 2   185delAG 1 frameshift at codon 23 breast cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
FI 1293 1 T 1411insT 1 frameshift at codon 431 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
FD 2193 5   2312del5 1 frameshift at codon 731 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
N 2338 1 T Q780X 1 Gln->Stop at codon 780 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
FD 2646 3   2765delTGC 1 frameshift at codon 882 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
FD 2685 2   2804delAA 1 frameshift at codon 895 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
N 2722 1 T E908X 1 Glu->Stop at codon 908 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
FID 3549 2 T 3668AG->T 1 frameshift at codon 1183 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
N 3640 1 T E1214X 1 Glu->Stop at codon 1214 breast cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
S 5407+5 1 A 5526+5G->A 1 skipping of exon 22 breast and ovarian cancer AD early Dutch germinal Verhoog (1998) Lancet 351, 316.
FI 1018 1 A 1136insA 1 frameshift at codon 340 ovarian cancer AD early Swiss germinal Garvin (1997) J. Med. Genet. 34, 990.
FD 1492 1   1611delC 1 frameshift at codon 498 breast cancer AD early Swiss germinal Garvin (1997) J. Med. Genet. 34, 990.
N 1529 1 G S510X 1 Ser->Stop at codon 510 breast cancer AD early Swiss germinal Garvin (1997) J. Med. Genet. 34, 990.
FD 2685 2   2804del2 1 frameshift at codon 895 breast and ovarian cancer AD early Swiss germinal Garvin (1997) J. Med. Genet. 34, 990.
FD 2920 2   3039del2 1 frameshift at codon 974 breast and ovarian cancer AD early Swiss germinal Garvin (1997) J. Med. Genet. 34, 990.
FI 3331 1 A 3449insA 1 frameshift at codon 1111 breast cancer AD early Swiss germinal Garvin (1997) J. Med. Genet. 34, 990.
FI 5267 1 C 5382insC 3 frameshift at codon 1756 breast and ovarian cancer AD early Belgian germinal Goelen (1999) J. Med. Genet. 36, 304.
N 3661 1 T E1221X 1 Glu->Stop at codon 1221 breast and ovarian cancer AD early Belgian germinal Goelen (1999) J. Med. Genet. 36, 304.
FD 2193 5   2312del5 2 frameshift at codon 731 breast and ovarian cancer AD early Belgian germinal Goelen (1999) J. Med. Genet. 36, 304.
S 212+3 1 G 331+3A->G 1 deletion of nucleotides 191 to 212 breast and ovarian cancer AD early Belgian germinal Goelen (1999) J. Med. Genet. 36, 304.
FID 3549 2 T 3668AG->T 1 frameshift at codon 1183 breast cancer AD early Belgian germinal Goelen (1999) J. Med. Genet. 36, 304.
N 3607 1 T R1203X 1 Arg->Stop at codon 1203 breast and ovarian cancer AD early Belgian germinal Goelen (1999) J. Med. Genet. 36, 304.
FD 3012 1   3131delG 1 frameshift at codon 1004 breast cancer AD early Belgian germinal Goelen (1999) J. Med. Genet. 36, 304.
FID 2834 3 C 2953GTA->C 1 frameshift at codon 945 breast and ovarian cancer AD early Canadian germinal Durocher (1996) J. Med. Genet. 33, 814.
FD 3331 4   3450delCAAG 1 frameshift at codon 1111 breast and ovarian cancer AD early Canadian germinal Durocher (1996) J. Med. Genet. 33, 814.
FD 5440 1   5559delG 1 frameshift at codon 1812 ovarian cancer sporadic not described English somatic Hosking (1995) Nat. Genet. 9, 343.
P 5277+49 12 GTATTCCACTCC 5396+48dupGTATTCCACTCC 1 intron polymorphism       American germinal Takahashi (1995) Can. Res. 55, 2998.
M 181 1 G C61G 1 Cys->Gly at codon 61 breast and ovarian cancer AD early American germinal Takahashi (1995) Can. Res. 55, 2998.
FD 72 2   191delTC 1 frameshift at codon 24 ovarian cancer AD early American germinal Takahashi (1995) Can. Res. 55, 2998.
FD 3870 2   3989delAA 1 frameshift at codon 1290 ovarian cancer AD early American germinal Takahashi (1995) Can. Res. 55, 2998.
P 591 1 T 710C/T 3 (1%) no amino acid change       American germinal Takahashi (1995) Can. Res. 55, 2998.
FD 3700 5   3819delGTAAA 1 frameshift at codon 1234 breast and ovarian cancer AD early American germinal Takahashi (1995) Can. Res. 55, 2998.
FD 3770 2   3889delAG 1 frameshift at codon 1257 breast and ovarian cancer AD early American germinal Takahashi (1995) Can. Res. 55, 2998.
FD 66 2   185delAG 1 frameshift at codon 23 breast, ovarian and prostatic cancer AD early American germinal Takahashi (1995) Can. Res. 55, 2998.
S 442-24 10   561-24delACTGTTCTTT 2 frameshift insertion of 59 nucleotides between exons 7 and 8 of mRNA breast and ovarian cancer AD early Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 1036 1 T P346S 1 Pro->Ser at codon 346       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 2612 1 T P871L 1 Pro->Leu at codon 871       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 3113 1 G E1038G 1 Glu->Gly at codon 1038       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 3548 1 G K1183R 1 Lys->Arg at codon 1183       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 4837 1 G S1613G 1 Ser->Gly at codon 1613       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 104 1 A 223G/A 1 no amino acid change       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 2082 1 T 2201C/T 1 no amino acid change       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 2311 1 C 2430T/C 1 no amino acid change       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
P 4308 1 C 4427T/C 1 no amino acid change       Taiwanese germinal Li (1999) Hum. Genet. 104, 201.
FID 3839 5 AGGC 3958CTCAG->AGGC 3 termination at codon 1280 breast and ovarian cancer AD early French germinal Presneau (1998) Hum. Genet. 103, 334.
FD 2681 2   2800delAA 1 frameshift at codon 894 breast, ovarian and throat cancer AD early Scottish germinal Boyd (1995) Nature 375, 541.
FD 66 2   185delAG 1 frameshift at codon 23 breast and ovarian cancer AD early American germinal Tartaglini (1998) Hum. Mutat. S1, S163.
FD 3002 1   3121delA 1 frameshift at codon 1001 breast and ovarian cancer AD early American germinal Tartaglini (1998) Hum. Mutat. S1, S163.
FD 3477 4   3596delAAAG 1 frameshift at codon 1159 breast and ovarian cancer AD early American germinal Tartaglini (1998) Hum. Mutat. S1, S163.
N 3598 1 T Q1199X 1 Gln->Stop at codon 1199 breast and ovarian cancer AD early American germinal Tartaglini (1998) Hum. Mutat. S1, S163.
N 4612 1 T Q1538X 1 Gln->Stop at codon 1538 breast and ovarian cancer AD early American germinal Tartaglini (1998) Hum. Mutat. S1, S163.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early American germinal Tartaglini (1998) Hum. Mutat. S1, S163.
S 5074 1 A 5193G->A 2 skipping of exon 17 breast and ovarian cancer AD early Icelandic germinal Bergthorsson (1998) Hum. Mutat. S1, S195.
P 3 1 T M1I 1 Met->Ile at codon 1       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 32 1 C V11A 1 Val->Ala at codon 11       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 61 1 G I21V 1 Ile->Val at codon 21       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 190 1 A C64Y 1 Cys->Tyr at codon 64       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 1137 1 G I379M 1 Ile->Met at codon 379       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 1520 1 T R507I 1 Arg->Ile at codon 507       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 2458 1 G K820E 1 Lys->Glu at codon 820       American germinal Couch (1996) Hum. Mutat. 8, 8.
N 3841 1 T Q1281X 1 Gln->Stop at codon 1281 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
P 4535 1 T S1512I 1 Ser->Ile at codon 1512       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 4956 1 A M1652I 1 Met->Ile at codon 1652       American germinal Couch (1996) Hum. Mutat. 8, 8.
N 5510 1 A W1837X 1 Trp->Stop at codon 1837 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
FD 1504 1   1623del5 1 frameshift at codon 502 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
FD 2086 1   2205delA 1 frameshift at codon 696 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
P 1866 1 T 1985G/T 1 no amino acid change       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 2079 1 T 2198C/T 1 no amino acid change       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 2568 1 C 2687T/C 1 no amino acid change       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 3958 1 C 4077T/C 1 no amino acid change       American germinal Couch (1996) Hum. Mutat. 8, 8.
P 4074 1 A 4193G/A 1 no amino acid change       American germinal Couch (1996) Hum. Mutat. 8, 8.
FD 1386 1   1505delG 1 frameshift at codon 462 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
FD 2456 1   2575delC 2 frameshift at codon 819 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
FD 2685 2   2804delAA 2 frameshift at codon 895 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
FD 3769 2   3888delAG 1 frameshift at codon 1257 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
FI 3820 1 G 3938insG 1 frameshift at codon 1274 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
D 1105 3   1224delGAT 1 deletion of Asp at codon 369 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
FI 2156 1 A 2274insA 1 frameshift at codon 719 breast and ovarian cancer AD early American germinal Couch (1996) Hum. Mutat. 8, 8.
N 4810 1 T Q1604X 1 Gln->Stop at codon 1604 breast cancer AD early French germinal Laplace-Marieze (1997) Hum. Mutat. 9, 474.
FD 4163 2   4282delAG 1 frameshift at codon 1388 breast and ovarian cancer AD early German germinal Waindzoch (1996) Hum. Mutat. 8, 393.
FD 66 2   185delAG 3 frameshift at codon 22 breast and ovarian cancer AD early American germinal Andersen (1998) Hum. Mutat. 11, 166.
FD 1504 5   1623del5 1 frameshift at codon 502 breast and ovarian cancer AD early American germinal Andersen (1998) Hum. Mutat. 11, 166.
FD 2068 1   2187delA 1 frameshift at codon 690 breast and ovarian cancer AD early American germinal Andersen (1998) Hum. Mutat. 11, 166.
N 2722 1 T Q908X 1 Gln->Stop at codon 908 breast and ovarian cancer AD early American germinal Andersen (1998) Hum. Mutat. 11, 166.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early American germinal Andersen (1998) Hum. Mutat. 11, 166.
P 2458 1 G K820E 1 Lys->Glu at codon 820       American germinal Andersen (1998) Hum. Mutat. 11, 166.
P 4535 1 T S1512I 1 Ser->Ile at codon 1512       American germinal Andersen (1998) Hum. Mutat. 11, 166.
P 4910 1 T P1637L 1 Pro->Leu at codon 1637       American germinal Andersen (1998) Hum. Mutat. 11, 166.
P 4956 1 A M1652I 1 Met->Ile at codon 1652       American germinal Andersen (1998) Hum. Mutat. 11, 166.
FI 1017 1 A 1135insA 3 frameshift at codon 339 breast and ovarian cancer AD early Norwegian germinal Andersen (1998) Hum. Mutat. 11, 166.
N 1450 1 T G484X 1 Gly->Stop at codon 484 breast and ovarian cancer AD early Norwegian germinal Andersen (1998) Hum. Mutat. 11, 166.
FD 1556 1   1675delA 1 frameshift at codon 519 breast and ovarian cancer AD early Norwegian germinal Andersen (1998) Hum. Mutat. 11, 166.
S 5075-2 1 C 5194-2A->C 1 skipping of exon 18 breast and ovarian cancer AD early Norwegian germinal Andersen (1998) Hum. Mutat. 11, 166.
FD 3762 2   3881delGA 1 frameshift at codon 1255 breast cancer AD early Ottini germinal Ottini (1998) Hum. Mutat. S1, S237.
S 212+3 1 G 331+3A->G 2 deletion of nucleotides 191 to 212 breast and ovarian cancer AD early Flemish germinal Claes (1999) Hum. Mutat. 13, 256.
FD 1072 1   1191delC 1 frameshift at codon 358 breast cancer AD early Flemish germinal Claes (1999) Hum. Mutat. 13, 256.
N 4327 1 T R1443X 1 Arg->Stop at codon 1443 breast and ovarian cancer AD early Flemish germinal Claes (1999) Hum. Mutat. 13, 256.
S 5407+5 1 A 5526+5G->A 1 skipping of exon 22 breast, ovarian and stomach cancer AD early Flemish germinal Claes (1999) Hum. Mutat. 13, 256.
FD 798 2   917delTT 1 frameshift at codon 266 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 981 2   1100delAT 1 frameshift at codon 327 breast cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FI 1017 1 A 1135insA 1 frameshift at codon 339 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FI 1381 1 A 1499insA 2 frameshift at codon 461 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 1504 5   1623del5 1 frameshift at codon 502 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
N 1687 1 T Q563X 1 Gln->Stop at codon 563 breast cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 2079 2   2198delAC 1 frameshift at codon 693 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 2611 2   2730delCC 1 frameshift at codon 871 breast cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 2727 4   2846del4 1 frameshift at codon 909 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 3228 2   3347delAG 1 frameshift at codon 1076 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FI 3254 1 A 3372insA 1 frameshift at codon 1085 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 3756 4   3875del4 1 frameshift at codon 1252 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FD 3782 1   3901delT 1 frameshift at codon 1261 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early Italian germinal De Benedetti (1998) Hum. Mutat. 12, 215.
FI 5267 1 C 5382insC 2 frameshift at codon 1756 breast and ovarian cancer AD early Polish germinal Stoppa-Lyonnet (1997) Am. J. Hum. Genet. 60, 1021.
FD 66 2   185delAG 4 frameshift at codon 22 breast and ovarian cancer AD early Canadian germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 66 2   185delAG 2 frameshift at codon 22 breast and ovarian cancer AD early English germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 1010 1 A 1128insA 1 frameshift at codon 337 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 1175 40   1294del40 1 frameshift at codon 392 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 4065 4   4184del4 1 frameshift at codon 1355 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
FD 4065 4   4184del4 3 frameshift at codon 1355 breast and ovarian cancer AD early English germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 5267 1 C 5382insC 4 frameshift at codon 1756 breast and ovarian cancer AD early Canadian germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 5267 1 C 5382insC 6 frameshift at codon 1756 breast and ovarian cancer AD early Scottish germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early Italian germinal Shattuck-Eidens (1995) JAMA 273, 535.
FI 5319 1 C 5438insC 1 frameshift at codon 1774 breast and ovarian cancer AD early American germinal Shattuck-Eidens (1995) JAMA 273, 535.
P 591 1 T 710C/T 1 no amino acid change       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2077 1 A D693N 25 Asp->Asn at codon 693       Canadian germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2082 1 T 2201C/T 111 (32%) no amino acid change       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2311 1 C 2430T/C 46 (32%) no amino acid change       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 2612 1 C L871P 135 (38%) Leu->Pro at codon 871       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 3113 1 G E1038G 80 (34%) Glu->Gly at codon 1038       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
P 3119 1 A S1040N 7 Ser->Asn at codon 1040       American germinal Durocher (1996) Hum. Mol. Genet. 5, 835.
FI 5267 1 C 5382insC 1 frameshift at codon 1756 breast and ovarian cancer AD early English germinal Shattuck-Eidens (1995) JAMA 273, 535.

*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 19 July 1999