Article
Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes.
Human mutation - 1 Feb 2011
van Vliet Christine M, Dowty James G, van Vliet Jane L, Smith Letitia, Mead Leeanne J, Macrae Finlay A, St John D James B, Giles Graham G, Southey Melissa C, Jenkins Mark A, Velan Gary M, Hopper John L
Abstract excerpt
Genetic diseases associated with dynamic mutations in microsatellite DNA often display parent-of-origin effects (POEs) in which the risk of disease depends on the sex of the parent from whom the disease allele was inherited. Carriers of germline mutations in mismatch repair (MMR) genes have high risks of colorectal carcinoma (CRC). We investigated whether these risks depend on the parent-of-origin of the...
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