Population carrier frequency of hMSH2 and hMLH1 mutations

M. G. Dunlop, S. M. Farrington, I. Nicholl, L. Aaltonen, G. Petersen, M. Porteous, A. Carothers

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


Knowledge of population carrier frequency for DNA mismatch repair (MMR) gene mutations would contribute to understanding the burden of cancer due to genetic susceptibility, but robust prevalence estimates are lacking. To estimate carrier frequency, we genotyped a cohort of relatives of mutation carriers 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 population aged 15-74 years is 1:3139 (95% Cl = 1:1247-1:7626) and these carriers are at high risk of colorectal and other cancers. (C) 2000 Cancer Research Campaign.

Original languageEnglish (US)
Pages (from-to)1643-1645
Number of pages3
JournalBritish journal of cancer
Issue number12
StatePublished - 2000


  • Colorectal cancer
  • DNA mismatch repair
  • Susceptibility
  • hMLH1
  • hMSH2

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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