Table 2 BRCA1/BRCA2 deleterious mutations in Indian Breast Cancer patients
From: Contribution of germline BRCA1 and BRCA2sequence alterations to breast cancer in Northern India
Exon | Gene | NT | Base Change | Codon | AA Change | Designation | Variation type | BIC entry | Case(s) n = 204 | A/S/R* | F.H. | Control(s) n = 140 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | BRCA1 | 185 | delAG | 23 | Stop 39 | 185delAG | Frame-shift protein truncating | Reported | 1 (0.49%) | 40/F/H | NO | 0 |
11d | BRCA1 | 4184 | delTCAA | 1355 | Stop 1634 | 4184del4 | Frame-shift protein truncating | Reported | 1 (0.49%) | 60/F/H | 3 Sisters + Mother Br Ca | 0 |
11d | BRCA1 | 3596 | delGAAA | 1159 | Stop 1208 | 3596del4 | Frame-shift protein truncating | Reported | 1 (0.49%) | 24/F/M | NO | 0 |
11e | BRCA2 | 6376 | Ins AA | 2049 | Stop 2051 | 6376InsAA | Frame-shift protein truncating | Novel | 1 (0.49%) | 30/F/H | NO | 0 |
19 | BRCA2 | 8576 | Ins C | 2783 | Stop 2797 | 8576InsC | Frame-shift protein truncating | Novel | 1 (0.49%) | 35/F/H | NO | 0 |
27B | BRCA2 | 9999 | del A | 3258 | Stop 3275 | 9999delA | Frame-shift protein truncating | Novel | 1 (0.49%) | 50/F/H | NO | 0 |