Of note, BRCA2 variant Y3308* has been associated with hereditary colorectal and breast cancer.45 Mice ES cells with BRCA2 Y3308* mutations showed hypersensitivity to ionizing radiation and crosslinking agents, as well as decreased homologous recombination efficiency.46 Additionally, FANCM R1931* was associated with increased breast cancer risk and deficient DNA repair.47 Fig. 5c and Supplementary Table 11 describe published somatic copy number alterations and predicted nonsynonymous variants within the FA pathway for this BLCA cohort. The gene discussed is FANCM; the disease is Friedreich ataxia.