Table 1

Clinical characteristics of women with and without BRCA founder mutations

Variable
No BRCA founder mutation (n = 440)
BRCA1 founder mutation (n = 43)
P (BRCA1 versus no founder mutation)*
BRCA2 founder mutation (n = 14)
P (BRCA2 versus no founder mutation)*

Age at diagnosis (years)





     < 50
135 (31%)
30 (70%)
< 0.0001
4 (29%)
NS
     ≥ 50
305 (69%)
13 (30%)

10 (71%)

Tumor size





     T1
324 (74%)
29 (67%)
NS
8 (57%)
NS
     T2
97 (22%)
11 (26%)

4 (29%)

     Unknown
19 (4%)
3 (7%)

2 (14%)

Nodal involvement





     Present
149 (34%)
18 (42%)
NS
6 (43%)
NS
     Absent
262 (60%)
23 (53%)

6 (43%)

     Unknown
29 (6%)
2 (5%)

2 (14%)

Estrogen receptor





     Positive
197 (45%)
6 (14%)
< 0.0001
7 (50%)
NS
     Negative
98 (22%)
27 (63%)

3 (21%)

     Unknown
145 (33%)
10 (23%)

4 (29%)

Chemotherapy





     Yes
156 (35%)
24 (56%)
0.02
7 (50%)
NS
     No
257 (58%)
17 (40%)

7 (50%)

     Unknown
27 (10%)
2 (4%)

0 (0%)

Tamoxifen





     Yes
190 (43%)
10 (23%)
0.01
9 (64%)
NS
     No
203 (46%)
30 (70%)

5 (36%)

     Unknown
47 (11%)
3 (7%)

0 (0%)


*Cases in which the characteristic of interest is unknown are not included in the comparisons. Woman with both BRCA1 and BRCA2 founder mutations are included in both groups, hence the total number women listed here is 497.

Robson et al. Breast Cancer Res 2004 6:R8   doi:10.1186/bcr658