Different from most HBOC cases, in which monoallelic germline mutations areassociated to increased adult-onset predisposition to several tumors, biallelicgermline loss-of-function mutations in a set of DNA repair genes, includingBRCA1, BRCA2 and PALB2, are associated to adistinct phenotype, characterizing subgroups of Fanconi Anemia (FA) (Howlett et al., 2002; Reid et al., 2007; Sawyer et al., 2015). Here, BRCA2 is linked to Friedreich ataxia.