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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