Table 5.
Family characteristics and pathological characteristics of breast cancers of individuals with deleterious BRCA1 and BRCA2 mutations
| Nucleotide change | AA change | Age of diagnosis of breast cancer | No. of breast/ovarian cancers in family | Mean age diagnosis (Breast cancer) | No. of cases (Breast cancer ≤ 50) | ER | PR | HER2 | Grade | ||
| BRCA1 | 180 delA | STOP 22 | 55 | 2 | 43 | 1 | - | - | - | 2 | IDC |
| 185 delAG | STOP 39 | 33 | 1 | 33 | 1 | - | - | - | 3 | IDC | |
| 185 insA | STOP 40 | 57 | 7 | 44 | 4 | NA | NA | NA | NA | IDC | |
| 589 delCT | STOP 157 | 45 | 3 | 41 | 3 | - | - | - | NA | IDC | |
| 1100 delAT | STOP 328 | 28 | 2 | 28 | 1 | - | - | - | 3 | IDC | |
| 1173 G>T | E352X | 45 | 3 | 45 | 1 | - | - | - | 2 | IDC | |
| 1323 G>T | E402X | 34 | 3 | 31 | 2 | NA | NA | NA | NA | Sarcoma | |
| 3889 delAG | STOP1265 | 47 | 3 | 47 | 2 | - | NA | + | NA | DCIS/IDC | |
| 4377 C>T | Q1420X | 39 | 2 | 45 | 2 | - | - | +/- | 3 | IDC | |
| 5370 C>T | R1751X | 31 | 5 | 38 | 3 | NA | NA | NA | NA | NA | |
| IVS 3+1 G>T | 46 | 2 | 47 | 2 | - | NA | + | NA | IDC | ||
| IVS 3+2 delT | 32 | 2 | 56 | 1 | - | NA | - | 2 | IDC | ||
| IVS 4-1G>C | 39 | 2 | 48 | 1 | NA | NA | NA | NA | IDC | ||
| IVS5-12 A>G | 33 | 1 | 33 | 1 | - | - | - | 3 | IDC | ||
| BRCA2 | 490 delCT | STOP 99 | 39 | 2 | 56 | 1 | - | - | - | 2 | IDC |
| 490 delCT | STOP 99 | 51 | 4 | 45 | 3 | + | + | - | NA | ILC | |
| 1184 insA | STOP 326 | 34 | 1 | 34 | 1 | + | + | - | 2 | IDC | |
| 2001 del4 | STOP 612 | 37 | 1 | 37 | 1 | + | - | + | 3 | IDC | |
| 2699 del6 | STOP 824 | 41 | 2 | 57 | 1 | + | NA | NA | 2 | IDC | |
| 2864 delCT | STOP 879 | 40 | 1 | 40 | 1 | - | NA | NA | 3 | IDC | |
| 4265 delCT | STOP 1350 | 55 | 4 | 44 | 3 | + | + | - | 2 | IDC | |
| 6195 insA | STOP 2002 | 42 | 3 | 46 | 2 | NA | NA | NA | NA | NA | |
| 6553 delGT | STOP 2109 | 59 | 3 | 49 | 1 | + | NA | - | 2 | IDC | |
| 6901 delA | STOP 2228 | 35 | 1 | 35 | 1 | NA | NA | NA | NA | IDC/DCIS | |
| 6943 G>T | E2239X | 47 | 2 | 44 | 2 | NA | NA | NA | NA | NA | |
| 9097 C>T | Q2957X | 38 | 7 | 44 | 2 | NA | NA | NA | NA | NA | |
| 9326 insA | STOP 3042 | 56 | 4 | 49 | 2 | - | - | NA | NA | NA | |
| IVS 17+1 G>A | 36 | 2 | 46 | 1 | - | - | - | 3 | IDC | ||
ER, oestrogen receptor; PR, progesterone receptor; AA, amino acid; DCIS, ductal carcinoma in situ; IDC, invasive ductal carcinoma; ILC, invasive lobular carcinoma.