So far, 12 unique SMAD4 splicing variants, including those characterized in the present study, have been described in 24 patients with JPS or a personal and familial history of cancer (Figure S2, Table S1) [16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31]. The gene discussed is SMAD4; the disease is cancer.