Furthermore, the OICI-CS-1077 ODX harbored well-characterized pathogenic mutations in TP53, COL2A1, CDKN2A, CDKN2B, and MTAP, all of which have been previously implicated in the pathogenesis of CS (Fig. 3a)13–17. The gene discussed is CDKN2B; the disease is Cowden syndrome 1.