While these three genes added a minor increase in the diagnostic yield, all five patients with NF1 variants had features of neurofibromatosis type 1, both of the two patients with CDH1 variants had lobular breast carcinoma, and one of the two patients with TP53 variants had a history of sarcoma and breast cancer at 29 years of age. The gene discussed is NF1; the disease is neurofibromatosis type 1.