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. Recent evidence suggests that a quarter of patients with multiple adenomatous polyps are due to rare but functionally important variants in just five genes.
Fearnhead
Nicola S
NS
Cancer Research U.K. Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, Oxford, UK.
Winney
Bruce
B
Bodmer
Walter F
WF
D000236:Adenoma / Q000235:genetics*; D018256:Adenomatous Polyps / Q000473:pathology; D020137:Base Pair Mismatch; D015179:Colorectal Neoplasms / Q000235:genetics*; D004260:DNA Repair; D004198:Disease Susceptibility; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007417:Intestinal Polyps; D020412:Multifactorial Inheritance; D012306:Risk; D051153:Wnt Proteins / Q000378:metabolism
D051153:Wnt Proteins