Multiple genetic studies have been implemented and identified some susceptibility genes for PC, such as KRAS, BRCA1, BRCA2, PALB2, FANCC, FANCG, ATM, CDKN2A, PRSS1, SPINK1, TERT, NR5A2, ZNRF3, and SMC2.3 However, the genetic risk of PC explained by the reported candidate loci was limited, indicating the existence of undiscovered susceptibility loci for PCs. Here, SPINK1 is linked to pachyonychia congenita.