Table 3 BRCA1/BRCA2 sequence variants of unknown significance and known polymorphisms 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/Ra | Family History | Control(s) n = 140 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | BRCA1 | 22 | C>G | 5'UTR | - | 22C>G | Transition UV | Novel | 1 (0.49%) | 35/F/H | NO | 0 |
7 | BRCA1 | 560 | T>C | Non coding | - | IVS7+38 T>C | Transversion Intronic, UV | Novel | 1 (0.49%) | 30/F/H | NO | 0 |
11a | BRCA1 | 790 | delG | Non coding | - | IVS10-12delG | Deletion Intronic, UV | Reported | 4 (1.96%) | 35/F/H 35/F/H 35/F/H 31/F/H | NO NO NO NO | 0 |
11d | BRCA1 | 3668 | A>G | 1183 | Lys to Arg | K 1183 R | Polymorphism | Reported | 16 (7.84%) | - | - | 25 (20.8%)b |
13 | BRCA1 | 4476 | T>C | Non coding | - | IVS13+2 T>C | Transversion Intronic, UV | Reported | 1 (0.49%) | 30/F/H | NO | 0 |
16 | BRCA1 | 4956 | A>G | 1613 | Ser to Gly | S1613G | Polymorphism | Reported | 1 (0.49%) | 62/F/H | NO | 2 (1.7%)b |
16 | BRCA1 | 5075 | G>A | 1652 | Met to Ile | M1652I | Polymorphism | Reported | 14 (6.86%) | - | - | 10 (8.3%)b |
17 | BRCA1 | 5119 5154 | A>G C>T | 1667 1679 | Lys to Arg Leu to Leu | K1667R 5154 C>T | Transversion, Missense UV Transversion Silent, UV | Novel Novel | 1 (0.49%) 1 (0.49%) | 35/F/H | Mother +Sister Br Ca | 0 0 |
2 | BRCA2 | 295 | T>A | Non coding | - | IVS2+90 T>A | Transition Intronic, UV | Novel | 1 (0.49%) | 32/F/H | NO | 0 |
7 | BRCA2 | 859 | A>T | Non coding | - | IVS 7+75A>T | Transition Intronic, UV | Novel | 1 (0.49%) | 32/F/H | NO | 0 |
8 | BRCA2 | 909 | C>T | Non coding | - | IVS 8+56C>T | Transversion, Intronic, UV | Novel | 1 (0.49%) | 52/F/H | Grand-Mother Br Ca | 0 |
10B | BRCA2 | 1593 | A>G | 455 | Ser to Ser | 1593A>G | Transversion Silent, UV | Reported | 1 (0.49%) | 48/F/H | NO | 0 |
14 | BRCA2 | 7470 | A>G | 2414 | Ser to Ser | 7470A>G | Polymorphism | Reported | 24 (11.8%) | - | - | 32 (26.7%)b |
22 | BRCA2 | 9079 | G>A | 2951 | Ala to Thr | A2951T | Transition Missense | Reported | 1 (0.49%) | 40/F/H | NO | 0 |
25 | BRCA2 | 9729 | insG | Non coding | - | IVS25+58InsG | Substitution Intronic, UV | Novel | 3 (1.47%) | 45/F/H 30/F/H 24/F/H | NO NO Sister Br Ca | 0 |