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Table 1 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 Total BRCA1 BRCA2 BRCA1 and -2
  n (%) n (%) n (%) n (%)
Female breast, age at index diagnosis, years
≤30 50 11.6 8 16.0 2 4.0 10 20.0
31-40 164 38.1 17 10.4 13 7.9 30 18.3
41-50 144 33.4 8 5.6 8 5.6 16 11.1
>50 73 16.9 4 5.5 5 6.8 9 12.3
Breast or ovarian cancers in family (first and second degree only)
Female breast 217 50.3 21 9.7 20 9.2 41 18.9
Female ovary 19 4.4 6 31.6 3 15.8 9 47.4
Manchester score
≤10 205 47.6 5 2.4 6 2.9 11 5.4
11-17 146 33.9 16 11.0 10 6.8 26 17.8
≥18 80 18.6 16 20.0 12 15.0 28 35.0
Ancestry
Malay 115 26.7 8 7.0 9 7.8 17 14.8
Chinese 248 57.5 15 6.0 16 6.5 31 12.5
Indian 59 13.7 12 20.3 3 5.1 15 25.4
Others 9 2.1 2 22.2 0 0.0 2 22.2
Referral characteristic
Early onset ≤35 years, regardless of family history 131 30.4 17 13.0 8 6.1 25 19.1
Two cases of breast cancer, one <50 years 126 29.2 10 7.9 11 8.7 21 16.7
Three cases of breast or ovarian cancer 76 17.6 13 17.1 12 15.8 25 32.9
One case of bilateral breast cancer <50 years, in index or first- and second-degree relative 39 9.0 10 25.6 3 7.7 13 33.3
One case of breast and ovarian cancer in same individual in index or first- and second-degree relative 8 1.9 3 37.5 1 12.5 4 50.0
Triple-negative breast cancer, ≤50 years 98 22.7 20 20.4 3 3.1 23 23.5
  1. In total, 431 breast cancer patients were analyzed for germline mutations in BRCA1 and BRCA2 by DNA sequencing and multiple ligation-dependent probe amplification (MLPA) analysis. Table 1 shows the distribution of women according to their age at diagnosis, family history of breast and ovarian cancer in first- and second-degree relatives, Manchester score and self-declared ethnicity, and the prevalence of BRCA1 and BRCA2 mutations in each category.