|
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.
