Author(s): Fearnhead NS, Winney B, Bodmer WF
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Abstract The rare variant hypothesis postulates that genetic susceptibility to colorectal neoplasia within the general population is due to a number of low frequency variants in a variety of different genes. Each variant confers a moderate, but detectable, increase in relative risk of developing the disease. Recent evidence suggests that a quarter of patients with multiple adenomatous polyps are due to rare but functionally important variants in just five genes.
This article was published in Cell Cycle
and referenced in Journal of Diabetes & Metabolism