Table 4.
BRCA1/BRCA2 mutations and sequence variants reported in Indian populations.
| Gene | aExon | aNucleotide change | aAmino acid change | bMutation type | cMutation effect | Reported in BIC | dSaxena (2002); n = 20 | dSaxena (2006); n = 204 | dKumar (2002); n = 14 | dValarmathi (2002); n = 13 | dValarmathi (2004); n = 16 | dHedau (2005); n = 124 |
| BRCA1 | 1 | 22 C>G | 5'UTR | UV | No | SC (35) | ||||||
| BRCA1 | 2 | 185 delAG | fs23 Stop 39 | FS | PT | Yes | SC (40) | ≥ 1 FDR br/ov | F01: br (40,35,34) F09: br (51,59,45,54,45,30) ov (51) | FH+ | ||
| BRCA1 | 2 | 147 G>A | Glu 10 Lys | MS | UV | No | patient/obligate carrier | |||||
| BRCA1 | 2 | 186 G>A | Glu 23 Lys | MS | UV | No | patient/obligate carrier | |||||
| BRCA1 | IVS-5 | 331+1 G>T | SS | UV | Yes | FH+(30) br(36) ov(46) | ||||||
| BRCA1 | 7 | 465 G>A | Glu 116 Lys | MS | UV | No | ≥1 FDR br/ov | |||||
| BRCA1 | 7 | 448 A>C | Lys 110 Thr | MS | UV | No | FH+(40) | |||||
| BRCA1 | 7 | 459 T>C | Ser 114 Pro | MS | UV | No | FH+(35) | |||||
| BRCA1 | IVS-7 | 560+38 T>C | NC | UV | No | SC (30) | ||||||
| BRCA1 | IVS-7 | 561-34 C>T | NC | PM | Yes | co-occurrence B1:185delAG | ||||||
| BRCA1 | IVS-10 | 790-12 delG | NC | UV | No | SC (35) SC (35) SC (35) SC (31) |
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| BRCA1 | 11 | 1027 delA | fs303 Stop313 | FS | PT | No | ≥1 FDR br/ov | |||||
| BRCA1 | 11 | 3596 del4 | fs1159 Stop1159 | FS | PT | Yes | SC (24) | |||||
| BRCA1 | 11 | 3667A>G | Lys1183Arg | MS | PM | Yes | 8% patients; 21% controls | patients and controls | ||||
| BRCA1 | 11 | 3672 G>T | Glu 1185 Stop | NS | PT | No | F08: br (36,45) | |||||
| BRCA1 | 11 | 3679 G>T | Ser 1187 Ile | MS | UV | Yes | patient/obligate carrier | |||||
| BRCA1 | 11 | 3730 G>T 3740 G>C |
Arg 1204 Ile Lys 1207 Asn |
MS MS |
UV UV |
No No |
F12: patient co-occurrence | |||||
| BRCA1 | 11 | 3769C>A | Ser 1217 Tyr | MS | UV | No | patient/obligate carrier | |||||
| BRCA1 | 11 | 3867 G>T | Glu 1250 Stop | NS | PT | Yes | F1: br (42,40,34) | |||||
| BRCA1 | 11 | 3797 C>G 3846 A>G |
Phe1226Leu Arg1243Gly |
MS MS |
UV UV |
No No |
F09: patient co-occurrence | |||||
| BRCA1 | 11 | 4184del4 | fs1355 Stop1364 | FS | PT | Yes | FH+ (60) br: (M,3S) | |||||
| BRCA1 | 12 | 4302 C>T | Gln 1395 Stop | NS | PT | Yes | FH+(40) | |||||
| BRCA1 | IVS-13 | 4476+2T>C | SS | UV | No | SC(30) | SC (30) | |||||
| BRCA1 | 16 | 4956 A>G | Ser 1613 Gly | MS | PM | Yes | 0.5% patients; 1.7% controls | |||||
| BRCA1 | 16 | 5075 G>A | Met 1652 Ile | MS | UV | Yes | 6.9% patients; 8.3% controls | |||||
| BRCA1 | 16 | 4956 insG | fs1613 Stop1621 | FS | PT | No | FH+(45) | |||||
| BRCA1 | 17 | 5119 A>G 5154 C>T |
Lys 1667 Arg Leu 1679 Leu |
MS silent |
UV UV |
No | FH+ (35) br: (M, S) co-occurrence | |||||
| BRCA1 | IVS-18 | 5271+66A>G | NC | PM | Yes | co-occurrence B1:185delAG | ||||||
| BRCA1 | 20 | 5341 T>G | Val 1741 Gly | MS | UV | No | 2.7% controls | |||||
| BRCA1 | 20 | 5364 C>G | Pro 1749 Ala | MS | UV | No | FH+ (30) FH+ (38) |
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| BRCA1 | 20 | 5379 G>T | Glu 1754 Stop | NS | PT | Yes | F2: br(40,39,32,29,27) | |||||
| BRCA2 | 2 | 203 G>A | 5'UTR | PM | Yes | patients and controls | patients and controls | |||||
| BRCA2 | IVS-2 | 295+90 T>A | NC | UV | No | SC (32) | ||||||
| BRCA2 | IVS-3 | 545-54C>G | NC | PM | No | patients and controls | ||||||
| BRCA2 | IVS-7 | 859+75A>T | NC | UV | No | SC (32) | ||||||
| BRCA2 | IVS-8 | 909+56C>T | NC | UV | Yes | FH+ (52) br: (GM) | ||||||
| BRCA2 | 10 | 1593A>G | Ser 455 Ser | silent | PM | Yes | SC (48) | |||||
| BRCA2 | 11 | 5227dupT 5639T>C 5929G>A |
fs1667 Stop1676 Val1804Ala Glu1901Lys |
FS MS MS |
PT UV UV |
No No No |
F11: br (24) co-occurrence | |||||
| BRCA2 | 11 | 5242dupT | FS | PT | No | F03: br (45,41,28) ov (63) | ||||||
| BRCA2 | 11 | 6180dupA | fs1984 Stop2002 | FS | PT | No | F02: br (39,40,32,29,27) | |||||
| BRCA2 | 11 | 5624C>T 6515C>T |
Thr 1679 Ile Pro 2096 Leu |
MS MS |
UV UV |
No No |
F12: br (36,45) co-occurrence | |||||
| BRCA2 | 11 | 5007A>C | Glu 1593 Asp | MS | UV | Yes | MBC(45) SC(32) not in cotrols |
|||||
| BRCA2 | 11 | 6376 ins AA | fs2049 Stop2051 | FS | PT | No | SC (30) | |||||
| BRCA2 | 14 | 7470A>G (PM) | Ser 2414 Ser | silent | PM | Yes | 11.8% patients; 26.7% controls | |||||
| BRCA2 | 18 | 8345A>G | Asn 2706 Ser | MS | UV | Yes | SC(30) B1:IVS13 co-occurrence FH+(60) br(35,40) not in controls |
- | ||||
| BRCA2 | 19 | 8576 insC | fs2783 Stop2797 | FS | PT | No | SC (35) | |||||
| BRCA2 | 22 | 9079 G>A | Ala 2951 Thr | MS | PM | Yes | SC (40) | |||||
| BRCA2 | IVS-25 | 9729+58InsGG | NC | UV | No | FH+ (24) br: S SC (30) SC (45) |
||||||
| BRCA2 | 27B | 9999delA | fs3258 Stop3275 | FS | PT | No | SC (50) |
aGenbank BRCA1-HSU14680; Genbank BRCA2-; IVS – intervening sequence-intron number;
bUTR – untranslated region; NC – non-coding; FS – frame shift; MS – missense; NS – nonsense.
cSS – splice site; PT – protein truncating; MS – missense; UV – unclassified variant; PM – polymorphism.
dn is the total number of independent families studied; (age of dx.); FH+ – family history present (M-mother, S-sister; GM-grandmother); FDR – first degree relative; MBC-male breast cancer; SC – sporadic cases; br – breast cancer; ov – ovarian cancer; br/ov – breast, breast-ovarian or ovarian cancer