In a similar case, Patient 112940 had a rare variant causing a stop at amino acid 56, eliminating function of APTX (aprataxin), involved in the repair of multiple forms of DNA breaks and implicated in therapeutic response in cancer [58–60], and a second rare variant (p.F460C) damaging NEIL3, a DNA glycosylase involved in the base excision repair pathways that protects cells from genotoxic stress and has been associated with prostate cancer risk [61, 62]. This evidence concerns the gene APTX and cancer.