After examining 113 cancer predisposition genes, we could identify definite or highly probable germline mutations in nine genes, including ATM, BLM, BRCA2, DDX41, FANCA, PALB2, RAD51, SBDS, and WRAP53. Among 95 patients with AML, eight were confirmed to have pathogenic mutations in germline samples and three had pathogenic mutations in genes where almost only germline mutations are implicated in AML (Table 5). The gene discussed is PALB2; the disease is cancer.