title: The APC E1317Q and I1307K polymorphisms in non-colorectal cancers.
abstract: Mutation of the adenomatous polyposis coli (APC) gene is an important initiating factor in the early stages of the multi-step colorectal cancer (CRC) carcinogenesis. APC E1317Q and I1307K variants have been linked to CRC. The aim of this study was to examine the association of these variants with non-colorectal cancers. Mutation screening was performed using real-time PCR. The APC E1317Q variant was detected in 1.25% individuals undergoing testing. Among 2076 patients that were analyzed for this mutation, 404 had cancer outside of the colon. None of the non-colorectal cancer patients was a carrier of the E1317Q polymorphism. The I1307K variant was found in 32 subjects with non-CRC (7.9%). We conclude herein that the E1317Q gene variant in the APC gene is not found in cancers outside of the colon. The prevalence of the more common I1307K variant is similar to that of CRC.
authors.affiliation: Integrated Cancer Prevention Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: Eliezer
authors.initials: E
authors.lastname: Liberman
authors.forename: Sarah
authors.initials: S
authors.lastname: Kraus
authors.forename: Eyal
authors.initials: E
authors.lastname: Sagiv
authors.forename: Oleg
authors.initials: O
authors.lastname: Dulkart
authors.forename: Dina
authors.initials: D
authors.lastname: Kazanov
authors.forename: Nadir
authors.initials: N
authors.lastname: Arber
mesh_terms: D004273:DNA, Neoplasm / Q000235:genetics; D005787:Gene Frequency; D017491:Genes, APC / Q000502:physiology*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D009369:Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D004273:DNA, Neoplasm