Figure 5.
Classification of FA patients based on the location of the FA/BRCA pathway disruption. The FANCA, FANCC, FANCE, FANCF, FANCG, and FANCL proteins are required for monoubiquitination of FANCD2. During S phase, and following DNA damage, FANCD2 is monoubiquitinated and targeted to nuclear foci containing BRCA1, FANCD1/BRCA2, and NBS1.9 Based on the strategy shown in Figure 4, the presumptive location of FA/BRCA pathway disruption in patients of the present series is indicated.
