A Novel Non-pathogenetic Polymorphism of the APC Gene in a Patient with Familial Adenomatous Polyposis Coli

Disorder: Familial adenomatous polyposis coli Ethnicity of patient: Japanese Gene: APC GenBank accession number: M 74088 Chromosomal assignment: 5q21 Type of DNA variant: A germline missense mutation A germline nonsense mutation Mutation: CGG (Arg, wild type) to TGG (Trp) substitution at codon 88 in exon 3 of the APC gene CGA (Arg, wild type) to TGA (term.) at codon 213 in exon 5 of the APC gene Allelic frequency: <0.014 (missense mutation, TGG at codon 88) Method of mutation detection: PCR–SSCP/direct sequencing