Among the several well established founder mutations, the 3 mutations of the Ashkenazi Jews (AJ), i.e. BRCA1 c.68_69delAG and c.5266dupC, BRCA2 c.5946delT, are worthy of particular mention because overall they account for 6.7-11.7 % of all breast cancer patients and 59 % of patients from high-risk breast cancer families in this population [3]. The gene discussed is BRCA1; the disease is breast carcinoma.