Table 2.
BRCA2 group and IHC tumour characteristics.
| ID pts | Age at diagnosis | DNA | Mutation effect | Grade | ° ER (score) | ° PR (score) | §HER2 | ^ BRCAPRO BRCA1 | ^ BRCAPRO BRCA2 | ^ BRCAPRO total | *BC, CBC and BBC cases | *OC cases |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BR288 | 36 | 9326insA | 3043X | 3 | + (6) | + (5) | 1+ | 0.003 | 0.026 | 0.029 | / | 1 (44) |
| BR295 | 54 | 657insC | 157X | 2 | + (8) | + (5) | - | 0.029 | 0.405 | 0.434 | 2 (41+43 CBC, 48) | / |
| BR312 | 47 | IVS16-2A>G | Exon skipping | 3 | + (5) | + (3) | 1+ | 0.002 | 0.365 | 0.367 | 2 (47, 77 M) | / |
| BR342 | 44+52 CBC | 9106C>T | Q2960X | 3 | + (8) | + (3) | 2+ | 0.006 | 0.182 | 0.187 | 2 (59, 68+75 CBC) | / |
| BR360 | 43 | IVS23+1G>T | Exon skipping | 3 | + (4) | + (6) | 2+/3+ | 0.088 | 0.553 | 0.640 | 1 (30 BBC) | / |
| BR382 | 44+63 CBC | 7507del7 | 2168X | 3 | + (6) | + (8) | 1+ | 0.002 | 0.061 | 0.063 | 1 (35) | / |
| BR410 | 24 | 9325delA | 3061X | 2 | + (7) | + (4) | 1+ | 0.170 | 0.557 | 0.727 | 1 (47) | 2 (54, 73) |
| BR450 | 48 | 4450C>T | Q1408X | 1 | + (7) | + (7) | - | 0.010 | 0.044 | 0.054 | 2 (52, 55) | 2 (38, 55) |
| BR571 | 31 | 3036del4 | 959X | 2 | + (3) | + (6) | 3+ | 0.001 | 0.037 | 0.038 | 3 (50, 50, 61) | / |
BC = breast cancer; CBC = controlateral breast cancer; BBC = bilateral breast cancer; OC = ovarian cancer; / = no cases; M = male. ° IHC Allred total scores of 3 or more were reported as positive. §HER2 IHC scores: - negative, 1+ weak, 2+ moderate, 3+ strong. ^ Probability of mutation calculated by BRCAPRO Software http://www.isds.duke.edu/~gp/brcapro.html; * number of additional tumours in the family and ages of onset in parentheses.