Table 1.
Polymorphisms found in the BRCA1 and BRCA2 genes by exon resequencing
| Gene | Nucleotide change | Effect on protein | NCBI SNP | Clinical significance1 | Case n=30 |
|---|---|---|---|---|---|
| BRCA1 |
c.2311T>C |
L771L |
rs16940 |
No |
3 |
| c.3113A>G |
E1038G |
rs16941 |
No |
2 |
|
| c.4308T>C |
S1436S |
rs1060915 |
No |
4 |
|
| c.4675+1G>A |
INV15+1 |
rs80358044 |
Yes |
1 |
|
| c.4837A>G |
S1613G |
rs1799966 |
No |
1 |
|
| BRCA2 |
c.-41A>G |
5'UTL |
- |
Unkown |
1 |
| c.-26G>A |
5'UTL |
rs1799943 |
No |
20 |
|
| c.658delGT |
V220 (223stop) |
rs80359604 |
Yes |
1 |
|
| c.1114A>C |
N372H |
rs144848 |
No |
1 |
|
| c.3396A>G |
K1132K |
rs1801406 |
No |
10 |
|
| c.3807T>C |
V1269V |
rs543304 |
No |
2 |
|
| c.4258G>T |
D1420Y |
rs28897727 |
No |
2 |
|
| c.4563A>G |
L1521L |
rs206075 |
No |
2 |
|
| c.5244delC |
S1748 (1748stop) |
- |
Yes |
1 |
|
| c.5744C>T |
T1915M |
rs4987117 |
minor |
2 |
|
| c.7242A>G |
S2414S |
rs1799955 |
No |
4 |
|
| c.7316delG | G2439 (2468stop) | - | Yes | 1 |
1 As clinically significant were considered nonsense, frameshift and splice site mutations, as well as missense ones which are considered as such in Breast Cancer Information Core database [16].