Skip to main content

Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Table 2 Characteristics of women tested for germline BRCA1 and BRCA2 mutations

From: Triple-negative breast cancer and PTEN (phosphatase and tensin homologue)loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer

Characteristics Triple negative Not triple negative Pvalue
  n= 110 n= 321  
  n BRCA1 BRCA2 Total (%) n BRCA1 BRCA2 Total (%)  
With family history          
Early onset, ≤35 years old 6 4 0 4 (66.7) 29 3 4 7 (24.1) 0.063a
>35 years old 32 9 3 12 (37.5) 161 7 13 20 (12.4) 0.0005b
Overall 38 13 3 16 (42.1) 190 10 17 27 (14.2) <0.0001b
Without family history          
Early onset, ≤35 years old 25 7 0 7 (28.0) 71 3 4 7 (9.9) 0.045a
36 to 50 years old 47 3 1 4 (8.5) 60 1 3 4 (6.7) 1.000a
Overall 72 10 1 11 (15.3) 131 4 7 11 (8.4) 0.131b
All, regardless of family history or age 110 23 4 27 (24.5) 321 14 24 38 (11.8) 0.001b
Mean age at diagnosis (years) 40.6     42.0     0.172
Mean number of first-degree relatives 7.2     7.1     0.827
Mean number of affected (breast or ovarian) relatives, first or second degree 0.6     0.8     0.003
Prevalence of BRCA1 mutations   20.9%     4.4%    <0.0001b
Prevalence of BRCA2 mutations    3.6%     7.5%   0.158b
  1. aFisher Exact test. bχ2 test. The prevalence of germline mutations in BRCA1 and BRCA2 (combined) in the 431 breast cancer patients analyzed, in whom 110 developed triple-negative breast cancer, and 321 did not. Family history includes presence of breast or ovarian cancer in first- and second-degree relatives, bilateral breast cancer in the index patient or relative, or breast and ovarian cancer in the same individual in the index patient or relative. P values were calculated by using Fisher Exact or χ2 test, and mean values were calculated by using independent t test.