Carrier Frequency of hMSH2 and hMLH1 Mutations
Author Information
Author(s): Dunlop M G, Farrington S M, Nicholl I, Aaltonen L, Petersen G, Porteous M, Carothers A
Primary Institution: Colon Cancer Genetics Group, Division of Molecular and Clinical Medicine, MRC Human Genetics Unit, University of Edinburgh
Hypothesis
What is the population carrier frequency of hMSH2 and hMLH1 mutations?
Conclusion
The estimated carrier prevalence of hMSH2 and hMLH1 mutations in the population aged 15–74 years is 1 in 3139, indicating a high risk of colorectal and other cancers for these carriers.
Supporting Evidence
- Knowledge of population carrier frequency for DNA mismatch repair gene mutations contributes to understanding cancer susceptibility.
- Robust prevalence estimates for these mutations are currently lacking.
Takeaway
This study found that about 1 in 3139 people carry certain gene mutations that can increase their risk of getting cancer.
Methodology
Genotyping of a cohort of relatives of mutation carriers combined with systematic data from Finland and the US.
Participant Demographics
Population aged 15–74 years.
Statistical Information
Confidence Interval
1:1247–1:7626
Digital Object Identifier (DOI)
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