Table 1.
BRCA1 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 and CBC cases | *OC cases |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BR332 | 42 | 633delC | 233X | 3 | - (2) | - (0) | - | 0.975 | 0.013 | 0.987 | 1 (27) | 2 (35, 56) |
| BR334 | 26 | 2428C>A | S770X | 3 | - (0) | - (0) | - | 0.658 | 0.091 | 0.748 | 1 (53) | 1 (75) |
| BR341 | 45 | del 9-19 | del ex. 9-19 ter 184 | 3 | - (0) | - (0) | - | 0.320 | 0.524 | 0.841 | 3 (37, 48 M, 52) | / |
| BR352 | 37 | del 23-24 | unpredictable | 3 | - (0) | - (0) | 1+ | 0.777 | 0.075 | 0.850 | 1 (29+42 CBC) | / |
| BR384 | 50+56 CBC | 795delT | 233X | 3 | - (0) | - (0) | 1+/2+ | 0.529 | 0.085 | 0.613 | 2 (56, 57) | 1 (57) |
| BR386 | 40 | 1806C>T | Q563X | 3 | - (0) | - (0) | 1+/2+ | 0.311 | 0.048 | 0.358 | / | 1 (69) |
| BR392 | 31 | 795delT | 233X | 3 | - (0) | - (0) | - | 0.813 | 0.066 | 0.876 | 1 (46+48 CBC) | / |
| BR441 | 46 | 5181delGTT | 1688delV | 3 | - (0) | - (0) | - | 0.166 | 0.036 | 0.202 | 3 (46, 47, 48) | 1 (63) |
| BR507 | 22 | 633delC | 233X | 3 | - (0) | - (0) | 1+ | 0.091 | 0.015 | 0.106 | / | / |
| BR587 | 38+60 CBC | 300T>G | C61G | 3 | - (0) | - (0) | 1+ | 0.922 | 0.063 | 0.984 | 2 (40, 43) | 1 (60) |
BC = breast cancer; CBC = controlateral breast cancer; OC = ovarian cancer; / = no cases; M = male. The ages at diagnosis of the first cousins are in boldface type; ° 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.