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Table 1 Demographic characteristics of the population study

From: Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

  Early age at onset cohort Control cohort
Total Number 73 60
Breast cancer positive 100% 41.7%
Median age at onset(IQR) 27 (25–27) 64 (62–67) n = 25
BRCA1 variant location
 BCCR1 (95%-CI) 13.8% (6.1–25.4%) 11.5% (4.4–23.4%)
 BCCR2 (95%-CI) 8.6% (2.9–19.0%) 5.8% (1.2–15.9%)
 BCCR2’ (95%-CI) 22.4% (12.5–35.3%) 15.4% (6.9–28.1%)
 OCCR (95%-CI) 25.9% (15.3–39%) 42.3% (28.7–56.8%)
BRCA1 variant type % (95%-CI)
 Frame-Shift-Del 26.0% (16.5–37.6%) 35.0% (23.1–48.4%)
 Frame-Shift-Ins 19.2% (10.9–30.1%) 16.7% (8.3–28.5%)
 Missense variant 8.2% (3.1–17.0%) 13.3% (5.9–24.6%)
 Nonsense variant 26.0% (16.5–37.6%) 21.7% (12.1–34.20%)
 Splice-Site variant 5.5% (1.5–13.4%) 5.0% (1.0–13.9%)
 CNV 15.1% (7.8–25.4%) 8.3% (2.8–18.4%)
Family History
Data available for
73 (100%) 60 (100%)
First-degree relative with Breast and/or Ovarian cancer 41 (56.2%) 59 (98.4%)
  1. BCCR Breast cancer cluster region, BCCR1 c.179–505, BCCR2 c.4328–4945, BCCR2’ c.5261–5563, OCCR c.1380–4062, Del Deletion, Ins Insertion, CNV Copy number variation