Rare Variant Hypothesis for Multifactorial Inheritance: Susceptibility to Colorectal Adenomas as a Model

Rare Variant Hypothesis for Multifactorial Inheritance: Susceptibility to Colorectal Adenomas as a Model

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....

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Bibliographic Details
Published in:Cell cycle (Georgetown, Tex.) Tex.), 2005-04, Vol.4 (4), p.521-525
Main Authors: Fearnhead, Nicola S., Winney, Bruce, Bodmer, Walter F.
Format: Article
Language:eng
Subjects:
Adenoma - genetics
Adenomatous Polyps - pathology
Base Pair Mismatch
Binding
Biology
Bioscience
Calcium
Cancer
Cell
Colorectal Neoplasms - genetics
Cycle
Disease Susceptibility
DNA Repair
Genetic Predisposition to Disease
Genetic Variation
Humans
Intestinal Polyps
Landes
Multifactorial Inheritance
Organogenesis
Proteins
Risk
Wnt Proteins - metabolism
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Summary: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.
ISSN:1538-4101
1551-4005