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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.
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