title: Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant.
abstract: APC*E1317Q is a low-penetrance variant of the APC gene suggested as a risk for the development of colorectal adenomas and carcinomas. There is very little in the literature describing the molecular details of APC*E1317Q in tumor tissue. We provide information about the molecular genetics of 3 patients with APC*E1317Q. For 1 patient, we show linkage to a specific APC allele. We further show that loss of heterozygosity of the APC gene in tumors from carriers of the APC*E1317Q mutation may involve the mutated allele, not just the wild-type allele, suggesting the APC*E1317Q missense mutation may not be pathologically significant in the development of colorectal tumors.
authors.affiliation: Department of Medicine, Saint Barnabas Medical Center, Livingston, NJ 070399, USA. pzauber@gmail.com
authors.forename: Peter
authors.initials: P
authors.lastname: Zauber
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Marotta
authors.forename: Marlene
authors.initials: M
authors.lastname: Sabbath-Solitare
mesh_terms: D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011446:Prospective Studies
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein