In terms of clinicopathology parameters, SMAD4 mutations were associated with tumor location (OR = 1.15, for colon versus rectum, 95% CI 1.01–1.31, P = 0.042), pathological TNM stage (OR = 1.28, for stage IV vs I–III, 95% CI 1.03–1.58, P = 0.025), lymph node metastasis (OR = 1.42, for N1 + N2 vs N0, 95% CI 1.20–1.67, P < 0.001), mucinous differentiation (OR = 2.23, 95% CI 1.85–2.70, P < 0.001) and RAS mutations (OR = 2.13, 95% CI 1.37–3.34, P = 0.001). Here, SMAD4 is linked to neoplasm.