We also screened additional index cases for mutations in the FANCD2 exons that contain the ATM phosphorylation (S222) and the FANCD2 monoubiquitination regions (K561), and the BRIP1/BACH1 exons that contained the previously reported breast cancer-association variants, p. P47A and p. M299I. The gene discussed is ATM; the disease is breast carcinoma.