Genes encoding proteins within the HR pathways, including BRCA1, BRCA2, and genes in the Fanconi anemia pathway, generally harbored more pathogenic germline variants (52%) than genes within other pathways such as DNA damage checkpoint control (22%), nucleotide excision repair (7%), MMR (3%) and other pathways (16%) (Fig. 2a). The gene discussed is BRCA2; the disease is Fanconi anemia.