title: Prevalence of the APC E1317Q variant in colorectal cancer patients.
abstract: The notion that some common variants of APC might confer an increased colorectal tumour risk is supported by studies of the I1307K polymorphism. Recently it has been proposed that the E1317Q variant is also associated with an increased risk. We have studied the prevalence of E1317Q in 364 colorectal cancer patients and in 290 controls. Two patients were shown to possess E1317Q. Neither had a family history of colorectal cancer or co-existent adenomatous polyps. Two controls also carried E1317Q. This finding suggests that E1317Q is unlikely to be associated with anything more than a moderate increase in risk of colorectal cancer.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK. s.popat@icr.ac.uk
authors.forename: S
authors.initials: S
authors.lastname: Popat
authors.forename: J
authors.initials: J
authors.lastname: Stone
authors.forename: G
authors.initials: G
authors.lastname: Coleman
authors.forename: G
authors.initials: G
authors.lastname: Marshall
authors.forename: J
authors.initials: J
authors.lastname: Peto
authors.forename: I
authors.initials: I
authors.lastname: Frayling
authors.forename: R
authors.initials: R
authors.lastname: Houlston
mesh_terms: D025601:Adenomatous Polyposis Coli Protein; D000328:Adult; D015179:Colorectal Neoplasms / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D006801:Humans; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D015995:Prevalence
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins