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Table 2 Estimated likelihood ratios for predicting BRCA1 or BRCA2 mutation status defined by breast tumor ER and/or grade phenotype*

From: Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Gene

ER status

Grade

Diagnosis <50 years

Diagnosis ≥50-70 years

% Carriers (CIMBA)

% BCAC

LR

(95% CI)

% Carriers (CIMBA)

% BCAC

LR

(95% CI)

BRCA1

ER negative

Grade 1

0.8

1.4

0.59

(0.36-0.98)

0.6

1.2

0.51

(0.18-1.40)

ER negative

Grade 2

9.8

6.7

1.36

(1.18-1.58)

13.3

6.1

2.34

(1.88-2.91)

ER negative

Grade 3

67.1

20.8

3.16

(2.96-3.37)

54.5

12.8

4.13

(3.70-4.62)

ER positive

Grade 1

1.0

13.7

0.08

(0.05-0.12)

2.3

20.6

0.11

(0.07-0.18)

ER positive

Grade 2

7.4

36.1

0.21

(0.18-0.24)

14.6

43.6

0.34

(0.28-0.42)

ER positive

Grade 3

13.9

21.2

0.64

(0.57-0.72)

14.7

15.8

0.90

(0.73-1.10)

  

100%

100%

  

100%

100%

  

-

Grade 1

2.1

15.8

0.13

(0.10-0.16)

2.9

22.3

0.12

(0.08-0.18)

Grade 2

18.1

42.8

0.38

(0.34-0.42)

28.7

49.1

0.57

(0.50-0.65)

Grade 3

79.8

41.4

1.67

(1.62-1.78)

68.4

28.6

2.20

(2.01-2.71)

  

100%

100%

  

100%

100%

  

ER negative

-

77.5

28.8

2.60

(2.47-2.73)

69.4

19.9

3.31

(3.03-3.61)

ER positive

22.5

71.2

0.32

(0.29-0.34)

30.6

80.1

0.37

(0.32-0.42)

  

100%

100%

  

100%

100%

  

BRCA2

ER negative

Grade 1

0.7

1.4

0.51

(0.25-1.05)

1

1.2

0.86

(0.36-2.08)

ER negative

Grade 2

3.4

6.7

0.49

(0.36-0.68)

5.2

6.1

0.89

(0.60-1.32)

ER negative

Grade 3

14.6

20.8

0.69

(0.59-0.80)

20.8

12.8

1.54

(1.27-1.88)

ER positive

Grade 1

4.9

13.7

0.37

(0.28-0.48)

6.6

20.6

0.32

(0.22-0.45)

ER positive

Grade 2

37.8

36.1

1.07

(0.97-1.17)

37.5

43.6

0.89

(0.77-1.02)

ER positive

Grade 3

38.7

21.2

1.77

(1.60-1.95)

28.9

15.8

1.76

(1.49-2.08)

  

100%

100%

  

100%

100%

  

-

Grade 1

5.7

15.8

0.33

(0.26-0.41)

8.6

22.3

0.35

(0.27-0.46)

Grade 2

41.8

42.8

0.88

(0.80-0.95)

42.0

49.1

0.81

(0.72-0.92)

Grade 3

52.5

41.4

1.08

(1.00-1.17)

49.4

28.6

1.52

(1.35-1.71)

  

100%

100%

  

100%

100%

  
 

ER negative

-

19.2

28.8

0.66

(0.59-0.74)

25.1

19.9

1.18

(1.01-1.38)

ER positive

80.8

71.2

1.15

(1.08-1.22)

74.9

80.1

0.90

(0.82-0.98)

  

100%

100%

  

100%

100%

  
  1. *Analyses stratified by country, as detailed in the methods section. LR, Likelihood ratio; ER, breast tumor estrogen-receptor status; BCAC, Breast Cancer Association Consortium, No known mutation status.
  2. ER-Grade analysis included tumor phenotypes from 3,039 BRCA1 mutation carriers (2,393 < 50 years at diagnosis, 646 ≥ 50 years), 1,718 BRCA2 mutation carriers (1,217 < 50 years at diagnosis, 501 ≥ 50 years) and 36,603 BCAC cases with no report of positive BRCA1/2 mutation status (12,584 < 50 years at diagnosis, 24,019 ≥ 50 years). Grade analysis included tumor phenotypes from 3,587 BRCA1 mutation carriers (2,825 < 50 years at diagnosis, 762 ≥ 50 years), 2,010 BRCA2 mutation carriers (1,415 < 50 years at diagnosis, 595 ≥ 50 years) and 41,545 BCAC cases with no report of positive BRCA1/2 mutation status (14,678 < 50 years at diagnosis). ER analysis included tumor phenotypes from 3,929 BRCA1 mutation carriers (3,106 < 50 years at diagnosis, 824 ≥ 50 years), 2,273 BRCA2 mutation carriers (1,616 < 50 years at diagnosis, 657 ≥ 50 years), and 42,623 BCAC cases with no report of positive BRCA1/2 mutation status (14,484 < 50 years at diagnosis, 28,139 ≥ 50 years). Percentages may not total 100 because of rounding error.