Table 3.
BRCA1 and/or BRCA2 uv 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA1 uv | |||||||||||||
| BR417 | 30 | 1186A>G | Q356R | 2 | + (3) | - (0) | 3+ | 0.015 | 0.040 | 0.055 | 1 (46) | / | |
| BR427 | 48 | 4274A>G | L1385L | 2 | + (7) | + (7) | 1+ | 0.000 | 0.010 | 0.011 | 1 (44) | / | |
| BR437 | 50 | 2351T>G | A744A | 1 | + (5) | + (3) | 1+ | 0.000 | 0.014 | 0.015 | 3 (50, 55, 59) | / | |
| BR523 | 48 BBC | IVS20+60ins12 | 2 | + (6) | + (7) | 1+ | 0.018 | 0.245 | 0.263 | 3 (50,50, 52) | / | ||
| BR570 | 47 | 5221T>C | L1701P | 3 | - (0) | + (3) | 3+ | 0.094 | 0.169 | 0.264 | 2 (49+52 CBC, 56) | / | |
| BR647 | 49 | 1186A>G | Q356R | 3 | + (8) | + (7) | 1+ | 0.005 | 0.010 | 0.015 | 3 (65, 67, 70) | / | |
| BR658 | 43 | 1186A>G | Q356R | 3 | + (6) | + (6) | 2+ | 0.001 | 0.069 | 0.070 | 3 (50+63 CBC, 57, 60*) | / | |
| BR665 | 65 BBC | 655A>G | Y179C | 2 | + (5) | + (5) | - | 0.001 | 0.004 | 0.004 | 3 (60, 80, 80) | / | |
| 1575T>C | F486L | ||||||||||||
| 1767A>G | N550H | ||||||||||||
| BRCA2 uv | |||||||||||||
| BR376 | 55 | IVS2-7T>A | 2 | + (6) | + (3) | 1+ | 0.000 | 0.008 | 0.008 | 2 (45, 90) | / | ||
| BR390 | 51 OC+54 BBC | 6328C>T | R2034C | 2 | + (5) | + (8) | - | 0.130 | 0.648 | 0.777 | 3 (34, 39, 40) | / | |
| BR458 | 44+49 CBC | 5972T>C | T1952I | 2 | + (7) | + (5) | - | 0.025 | 0.433 | 0.459 | 2 (50 BBC, 70) | / | |
| BR486 | 56 | 2457T>C/ 9329A>G | H743H/R3034Q | 3 | + (5) | + (8) | - | 0.000 | 0.000 | 0.000 | 4 (57, 71, 75, 90) | / | |
| BR505 | 67 | 6751C>G | Q2175E | 1 | + (7) | + (7) | - | 0.018 | 0.426 | 0.444 | 4 (40 BBC, 50 BBC, 53 BBC, 58) | / | |
| BR538 | 62 | 4236G>A | L1356L | 2 | + (7) | + (7) | - | 0.001 | 0.025 | 0.026 | 2 (50 BBC, 56) | / | |
| BR587 | 38+60 CBC | IVS24-113T>G | 3 | - (0) | - (0) | 1+ | 0.922 | 0.063 | 0.984 | 2 (40, 43) | 1 (60) | ||
| BRCA1/2 uv | |||||||||||||
| BR514 | 57 | 3238G>A | S1040N | 1 | + (7) | + (8) | - | 0.001 | 0.061 | 0.062 | 4 (42, 45, 49, 55) | / | |
| IVS4+67A>C 1613A>G |
E462G | ||||||||||||
| BR552 | 70 | 4158A>G | R1347G | 3 | + (5) | + (3) | 3+ | 0.000 | 0.012 | 0.012 | 3 (40, 47, 65) | / | |
| 6328C>T | R2034C | ||||||||||||
| BR567 | 50 | IVS4+67A>C | 3 | + (6) | + (7) | - | 0.009 | 0.215 | 0.225 | 3 (37 BBC, 50 BBC, 50) | 1 (59) | ||
| 2457T>C | H743H | ||||||||||||
| BR571 | 31 | IVS9-34T>C | 2 | + (3) | + (6) | 3+ | 0.001 | 0.037 | 0.038 | 3 (50, 50, 61) | / | ||
| 5972C>T | T1951M | ||||||||||||
| BR580 | 43 | 3238G>A | S1040N | 3 | + (7) | + (5) | 1+ | 0.001 | 0.030 | 0.031 | 2 (46, 68) | / | |
| 1409A>G | E394A | ||||||||||||
| BR640 | 30 | 855T>G | L246V | 3 | + (7) | - (0) | 1+ | 0.117 | 0.261 | 0.378 | 2 (30, 40) | / | |
| 4296G>A | L1356L | ||||||||||||
BC = breast cancer; CBC = controlateral breast cancer; BBC = bilateral 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.