In addition, G108 frame-shift deletion, I195 missense and R213 nonsense mutations, which were uniquely detected as hotspot mutations in BRCA, OV and READ respectively, are associated with either reduced or enhanced TP53 expression in corresponding cancer types, suggesting the functional heterogeneity of hotspot mutations in different cancer types (Fig. 4a and Additional file 10: Figure S5). The gene discussed is TP53; the disease is cancer.