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Modifiers of risk in familial adenomatous polyposis

  • Published:
Current Colorectal Cancer Reports

Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant condition caused by mutations in the adenomatous polyposis coli (APC) gene. The phenotypic expression of FAP is extremely variable, and only part of this variability reflects the influence of different germline APC mutations. The remaining differences are likely attributable to the action of modifier genes and environmental (including pharmacologic) factors. In this review, we discuss recent investigations of candidate modifiers of FAP risk, including studies examining the roles of the MutY homolog, insulin-like growth factor-2, EphB receptors, detoxification enzymes, cyclooxygenase-2, and lipoprotein lipase. Identification of FAP modifier genes will provide new insight into the mechanisms of colorectal cancer development and may suggest novel therapeutic targets as well as candidate genes for colorectal cancer susceptibility in the general population.

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  1. Room 1225, Mount Sinai Hospital, 600 University Avenue, M5G 1X5, Toronto, Ontario, Canada

    Steven Gallinger MD, MSc, FRCS(C)

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  1. George Zogopoulos MD, PhD
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  2. Steven Gallinger MD, MSc, FRCS(C)
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Correspondence to Steven Gallinger MD, MSc, FRCS(C).

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Zogopoulos, G., Gallinger, S. Modifiers of risk in familial adenomatous polyposis. Curr colorectal cancer rep 2, 185–190 (2006). https://doi.org/10.1007/s11888-006-0021-z

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  • DOI: https://doi.org/10.1007/s11888-006-0021-z

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