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

Mark A. Jenkins, Melissa C. Southey, Graham G. Giles, John L. Hopper

Research output: Contribution to journalReview ArticleOther

1 Citation (Scopus)


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.

Original languageEnglish
Pages (from-to)173-178
Number of pages6
JournalCurrent Colorectal Cancer Reports
Issue number4
Publication statusPublished - 1 Dec 2006
Externally publishedYes

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