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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.

Original publication




Journal article


Cell Cycle

Publication Date





521 - 525


Adenoma, Adenomatous Polyps, Base Pair Mismatch, Colorectal Neoplasms, DNA Repair, Disease Susceptibility, Genetic Predisposition to Disease, Genetic Variation, Humans, Intestinal Polyps, Multifactorial Inheritance, Risk, Wnt Proteins