Table 2 The missense variations in the exons and the introns (defined polymorphisms in BIC database) of BRCA1 and BRCA2 gene and their percentage
From: Molecular genetics analysis of hereditary breast and ovarian cancer patients in India
| Â | BRCA1 | BRCA2 | ||
|---|---|---|---|---|
| Â | Polymorphisms | Cases (n = 91) (%) | Polymorphisms | Cases (n = 91) (%) |
Exons |  |  | 3 – c.294A>G; p. L98L * | 1 (1%) |
|  | 11K – c.2311T>C; p. L771L | 42 (45.4%) | 10B – c.1114C>A; p. H372N | 36 (40%) |
|  | 11N – c.2612C>T; p. P871L | 38 (41.2%) | 10C – c.1365A>G; p. S455S | 1 (1%) |
|  | 11S – c.3113A>G; p. E1038G | 20 (22%) | 11B – c.4258G>T; p. D1420Y | 2 (2%) |
|  | 11TU – c.3548A>G; p.K1183R | 12 (13%) | 11C – c.4779A>C; p. E1593D | 3 (3.1%) |
|  | 16 – c.4956G>A; p. M1652I | 4 (4.1%) | 11F – c.2538A>C; p. S846S * | 2 (2%) |
|  | 16 – c.4838A>G; p. S1613G | 4 (4.1%) | 11H – c.2892A>T; p. K964N * | 1 (1%) |
|  | 11P – c.2597G>T; p. R866L * | 1 (1%) | 11I – c.2971A>G; p. N991D | 5 (5.3%) |
|  |  |  | 11K – c.3807T>C; p. V1269V | 4 (4.2%) |
Introns | c.301-41T>C | 5 (5.3%) | Â | Â |
| Â | c.441-34T>C | 1 (1%0 | c.1-26G>A | Â |
| Â | c.548-58del T | 22 (24%) | c.6841+79delTTAA | 4 (4.2%) |
| Â | c.4184-10G>A | 1 (1%) | c.7807-14T>C | 33 (36%) |
| Â | c.4987-68A>G | 22 (24%) | c.8755-66T>C | 39 (43.2%) |
| Â | c.4987-92A>G | 22 (24%) | c.68-21T>G | 38 (42%) |
| Â | c.5075+66G>A | 5 (5.3%) | c.7804-12T>C | 1 (1%) |
| Â | c.5152+66A>G | 2 (2%) | Â | 1 (1%) |
| Â | c.547-64 del T | 1 (1%) | Â | Â |