Table 1 Frequency of RECQL pathogenic variants according to family structure
From: Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
Risk group | Phenotype of families | No. of families | Families with RECQL pathogenic variant n (%) |
|---|---|---|---|
| Â | All families | 302 | 1 (0.3) |
A1 + A2 + A3 | Female breast cancer families | 255 | 1 (0.4) |
A1 |  Early-onset breast cancer (1 case ≤30 years) | 122 | 0 (0.0) |
A2 + A3 |  Familial breast cancer (≥2 cases, ≥1 diagnosed ≤50 years) | 133 | 1 (0.8) |
A4 | Male breast cancer (1 case diagnosed at any age) | 29 | 0 (0.0) |
B | Breast and ovarian cancer families (≥1 breast cancer and ≥ 1 ovarian cancer) | 18 | 0 (0.0) |