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Curr Oncol Rep. 2007 May;9(3):202-7.

Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer.

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Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Carlton, Victoria 3053, Australia.


We address the issue of modifiers of risk for persons who are, on average, at high risk of colorectal cancer due to carrying germline genetic mutations. We discuss how to estimate risk and assess modifiers using data from mutation-carrying families. A critical analytical issue is the adjustment for how families have been sampled (ascertainment). Only a few published studies have made appropriate adjustments and have mostly reported lifetime risks of less than 50%. Incomplete penetrance and differences in risk by subcategories are consistent with the existence of genetic and/or environmental risk -modifiers. Data from large cohorts of carriers are required to study such modifiers with precision.

[Indexed for MEDLINE]

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