Among these, INF_R_1076 had a BRCA2 pathogenic homozygous mutation and INF_R_025 a BRCA2 compound heterozygous mutation (both patients also had a clear phenotype, that is, Fanconi anemia), while the remaining tumors had heterozygous (likely) pathogenic BRCA1/2 mutations (Fig. 4c) without any second hit in the tumor. The gene discussed is BRCA2; the disease is neoplasm.