Mutations in ERCC2/XPD have been linked to multiple human genetic disorders, including xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) (Laugel, 2013; Taylor et al., 1997; Ueda et al., 2009). This evidence concerns the gene ERCC2 and Cowden syndrome 1.