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Table 3 BRCA1 and/or BRCA2 uv group and IHC tumour characteristics.

From: Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers

  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          
  1. 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.