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). Here, BRCA2 is linked to leukemia.