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Table 2 Description of BRCA1, BRCA2, and transheterozygote BRCA1 + BRCA2 mutation carriers

From: Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Variable Value BRCA1 + BRCA2 (TH)N(%) BRCA1 (SH1)N(%) P value* P value* BRCA1 + BRCA2 (TH) N(%) BRCA2 (SH2)N(%) P value** P value**
Total matched   91 9316    89 3370   
Year of birth <1940
1941–1950
1951–1960
1961–1970
>1970
5 (5.5)
20 (22.0)
21 (22.6)
27 (29.0)
18 (19.8)
886 (9.5)
1628 (17.4)
2607 (28.0)
2409 (25.9)
1779 (19.0)
0.424 (ref)
0.112
0.474
0.153
0.245
5 (5.6)
19 (21.3)
19 (21.3)
27 (30.3)
19 (21.3)
486 (14.4)
735 (21.8)
914 (27.1)
724 (21.5)
511 (15.2)
0.025 (ref)
0.060
0.156
0.005
0.007
Ethnicity White
African American
Asian
Hispanic
Jewish
Other
47 (51.6)
0 (0)
6 (6.6)
1 (1.1)
30 (33.0)
7 (7.7)
5736 (61.6)
20 (0.2)
82 (0.9)
143 (1.5)
1779 (19.1)
1556 (16.7)
<0.001 (ref)
1.00*
<0.001
1.00
0.002
--
45 (50.6)
0 (0)
6 (6.7)
2 (2.2)
29 (32.6)
7 (7.9)
1686 (50.0)
15 (0.4)
66 (2.0)
57 (1.7)
936 (27.8)
610 (18.1)
0.007 (ref)
1.00*
0.004
0.667
0.573
--
Breast cancer No
Yes
29 (31.9)
62 (68.1)
4470 (48.0)
4846 (52.0)
0.002   29 (32.6)
60 (67.4)
1671 (49.6)
1699 (50.4)
0.002  
Age of breast cancer Mean (range) 40.4 (23–67) 41.9 (18–82) 0.231   40.5 (23–67) 45.0 (19–82) <0.001  
Ovarian cancer No
Yes
74 (81.3)
17 (18.7)
7766 (83.4)
1550 (16.6)
0.603   74 (83.1)
15 (16.9)
3056 (90.7)
314 (9.3)
0.017  
Age of ovarian cancer Mean (range) 54.1 (36–66) 50.9 (20–85) 0.154   54.7 (42–66) 56.8 (26–89) 0.421  
Bilateral mastectomy No
Yes
58 (63.7)
8 (9.0)
4807 (51.6)
809 (8.7)
0.599   58 (65.2)
8 (9.0)
1856 (55.0)
305 (9.1)
0.646  
Prophylactic oophorectomy No
Yes
45 (49.5)
24 (26.4))
3583 (38.4)
2476 (26.6)
0.307   45 (50.6)
24 (27.0)
1388 (41.2)
980 (29.1)
0.272  
Follow up age (if no cancer) Mean (range) 39.1 (20–68) 40.5 (18–99) 0.587   39.1 (20–68) 44.1 (18–94) 0.068  
  1. *Matched BRCA1 mutation carriers vs BRCA1 + BRCA2 mutation carriers; **matched BRCA2 mutation carriers vs BRCA1 + BRCA2 mutation carriers
  2. Significant p values are shown in bold type