Estimating the Absolute Risk of Disease Associated with Identified Mutations
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For a given mutation status, we define the absolute risk as the chance that disease develops in a defined age interval, given that the person is well at the beginning of the interval. Absolute risk is reduced by competing risks of mortality, that may cause the person to die before the disease of interest develops. We distinguish absolute risk from the pure cumulative risk of disease that is often estimated in the genetic epidemiologic literature, and we concentrate on estimating marginal risks for members selected at random from the population, rather than family specific risks. We review cohort, population-based case–control, case–control family, and kin-cohort designs for estimating absolute and pure cumulative risks associated with a measurable genetic mutation.
KeywordsBreast Cancer Breast Cancer Risk Absolute Risk Natl Cancer Inst Cohort Design
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