Application of the test to 36 germline samples from individuals with a personal and/or family history of cancer identified a pathogenic genomic alteration in CDKN2A (MIM: 600160) (p.V59G) in a patient with familial melanoma, and a truncating BRCA2 variant (p.A938Pfs*21) in a patient with familial breast/ovary cancer (Table 7). The gene discussed is BRCA2; the disease is melanoma.