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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