For this purpose, they collected material from patients and the profiling results revealed mutations not only in key genes such as KRAS, TP53, and SMAD4 but also in genes involved in homologous repair: ARID1A (AT-rich interactive domain-containing protein 1A), ATR, ATM, RAD51B, BRCA2, PALB2 (Partner and localizer of BRCA2) and CHEK2 (Checkpoint kinase 2), NBN (Nibrin), RAD50, RAD51, FANCA (FA complementation group A), FANCD2 (FA complementation Group D2), and FANCI (FA complementation Group I) [172]. This evidence concerns the gene SMAD4 and Friedreich ataxia.