Moreover, rare damaging variants affecting specific DNA repair gene categories, such as ubiquitin modification, poly (ADP-ribose) polymerase (PARP) enzymes that bind to DNA, nonhomologous end-joining, homologous recombination (BRCA1, EME2, SPIDR, and RAD54L), Fanconi anemia genes (BRCA2, FANCA, BRIP1, SLX4, FANCD2, and FAAP24), genes associated with DNA sensitivity to damaging agents, and base excision repair, were observed only in patients. This evidence concerns the gene EME2 and Fanconi anemia.