ATM and breast carcinoma: 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).