No abnormalities in DDR could be observed in PBMCs obtained from patients diagnosed with FA (FANCA, FANCC), DC (RTLE1), defects in MMR (PMS2), and the SWI/SNF complex (SMARCA4) (data not shown), although delayed reduction of γH2AX foci has been reported in FA cell lines [60]. The gene discussed is FANCC; the disease is Friedreich ataxia.