PV were detected in 13 cancer predisposition genes including ATM (n=4), BLM (n=1), BRCA1 (n=1), BRCA2 (n=7), BRIP1 (n=1), CDKN2A (n=1), CHEK2 (n=9), FANCC (n=1), MUTYH (n=10), NBN (n=1), PALB2 (n=1), RAD51D (n=1) and STK11 (n=1) (Table 3). The gene discussed is ATM; the disease is cancer.