Purpose: The purpose of this study was to compare the survival of CHEK2 mutations positive and CHEK2 mutations negative patients with bladder or kidney cancer.
Materials and methods: 1419 patients with bladder and 835 cases with kidney cancer and 8302 controls were genotyped for four CHEK2 variants: 1100delC, del5395, IVS2+1G>A and I157T. Predictors of survival were determined among CHEK2 carriers using the Cox proportional hazards model. The median follow-up was 17 years. Covariates included age (≤65; >66), smoking status (non-smoking; smoking), cancer family history (negative; positive) and gender (females; males).
Results: Of the 1419 bladder patients enrolled in the study, 118 (8.32%) carried a CHEK2 mutation (all variants combined) (OR=1.4; 95% CI 1.17–1.78; p=0.0006), including 25 (1.76%) cases with a truncating mutation (OR=1.84; 95% CI, 1.17-2.89; p=0.01) and 93 (6.55%) patients with a missense mutation (OR=1.35; 95% CI, 1.07-1.7; p=0.01). We found no impact of CHEK2 mutations on bladder or kidney cancer survival. The 10-year survival for all CHEK2 mutation for bladder cancer carriers was 19% and for non-carriers was 13% (p=0.7). The 10-year survival for kidney cancer carriers was 6% and for non-carriers was 4% (p=0.9).
Conclusion: We found no impact of CHEK2 mutations on bladder or kidney cancer survival regardless of their age, sex, cancer family history and smoking status.