The discovery of BRCA2 as the gene of which bi-allelic PGVs can cause FA of the complementation group FA-D1 [14], and, more recently, PGVs in BRCA1 for the FA complementation group FA-S [15] has placed FA from a rare paediatric genetic disease firmly in the context of familial cancer. Here, BRCA1 is linked to Friedreich ataxia.