Abstract
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.
Copyright 2000 Cancer Research Campaign.
Publication types
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Multicenter Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adaptor Proteins, Signal Transducing
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Adolescent
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Adult
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Aged
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Carrier Proteins
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Cohort Studies
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Colorectal Neoplasms / epidemiology
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Colorectal Neoplasms / genetics
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DNA Mutational Analysis
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DNA, Neoplasm / chemistry
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DNA, Neoplasm / genetics
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DNA-Binding Proteins*
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Genotype
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Heterozygote*
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Humans
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Middle Aged
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MutL Protein Homolog 1
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MutS Homolog 2 Protein
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Mutation
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Neoplasm Proteins / genetics*
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Nuclear Proteins
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Prevalence
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Proto-Oncogene Proteins / genetics*
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Scotland / epidemiology
Substances
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Adaptor Proteins, Signal Transducing
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Carrier Proteins
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DNA, Neoplasm
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DNA-Binding Proteins
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MLH1 protein, human
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Neoplasm Proteins
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Nuclear Proteins
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Proto-Oncogene Proteins
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MSH2 protein, human
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MutL Protein Homolog 1
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MutS Homolog 2 Protein