Mutation screening in the family carrying BRCA2:p.Glu1413Aspfs revealed two additional carriers of RNASEL:p.Glu265*: the proband’s mother, who had been diagnosed with breast cancer and leukemia (age at diagnoses 65 and 83 years respectively) and one of the proband’s brothers (Fig. 2b). The gene discussed is BRCA2; the disease is breast cancer.