Several studies showed that loss of function mutations in the PTCH1 gene can lead to BCC predisposition in the NBCCS (Bresler et al., 2016; Dong et al., 2000; Fujii et al., 2003; Hahn et al., 1996; Wolter et al., 1997). The gene discussed is PTCH1; the disease is skin basal cell carcinoma.