BRCA1 and Friedreich ataxia: P8 does appear to have the mildest phenotype of FA-S patients (and is the oldest surviving FA-S patient to-date), but should certainly be distinguished from classical HBOC (BRCA1) patients on account of the congenital abnormalities, sensitivity to crosslinking chemotherapeutics, and presence of two pathogenic mutations in trans. P9 is the second male patient to be identified with FA-S (34), and is a compound heterozygote with two pathogenic truncating BRCA1 mutations in trans: p.S282Yfs*15 and p.Y978*.