Patients with a family history of breast cancer, and in particular patients with a family history of breast and ovarian cancer, showed 237 and 1172 % increased risk of carrying BRCA1 mutations, respectively, compared to women affected by early-onset breast cancer (Global P < 0.0001) (corresponding RP = 3.37; 95 % CI 1.96–5.80; and RP = 12.72; 95 % CI 6.22–26.0, respectively). The gene discussed is BRCA1; the disease is breast cancer.