Table 1 Demographic characteristics of the population study
| Â | 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%) |