Population carrier frequency of hMSH2 and hMLH1 mutations

Knowledge of population carrier frequency for DNA mismatch repair (MMR) gen e mutations would contribute to understanding the burden of cancer due to g enetic susceptibility, but robust prevalence estimates are lacking. To esti mate carrier frequency, we genotyped a cohort of relatives of mutation carr iers and determined their colorectal cancer prevalence. Systematic Finnish and US data were combined with Scottish genotype and cancer prevalence data in a Bayesian calculation. The estimated carrier prevalence in the populat ion aged 15-74 years is 1:3139 (95% CI = 1:1247-1:7626) and these carriers are at high risk of colorectal and other cancers. (C) 2000 Cancer Research Campaign.