Indeed, in 2 out of 3 patients carrying a germline PV (Mel_1 and Mel_3), loss of ATM and pATM expression was observed (Mel_3, Figure 2A) and correlated with the presence of the mutated allele at a high frequency as detected by DNA sequencing in the melanoma tissue, as well as in breast cancer tissue from one of the two patients (Table 2). The gene discussed is ATM; the disease is melanoma.