title: Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer.
abstract: Familial adenomatous polyposis coli is caused by constitutional mutations in the APC gene. The hallmark of familial adenomatous polyposis coli is the presence of numerous (> 100) colorectal polyps, but mutations in the 5' end of the APC gene have been associated with familial colorectal cancer without florid polyposis. Although familial adenomatous polyposis coli accounts for only a minority of familial colorectal cancer cases, we hypothesised that APC mutations which were not associated with florid polyposis might make a significant contribution to nonpolyposis familial colorectal cancer. To investigate this possibility, we analysed 40 unrelated patients with familial colorectal cancer without classical familial adenomatous polyposis coli for mutations in exons 1 to 6 (codons 1 to 243) of the APC gene. No mutations were detected, but a C-->T polymorphism at nucleotide 333 (Arg-->Trp at codon 99) was identified. No 5' APC mutations were detected in two patients with desmoid tumours and a family history of colorectal cancer and polyps. We conclude that mutations in exons 1 to 6 of the APC gene are infrequent in patients with familial colorectal cancer who do not have many colorectal polyps.
authors.affiliation: Cambridge University Department of Pathology, Addenbrooke's Hospital, UK.
authors.forename: J A
authors.initials: JA
authors.lastname: Joyce
authors.forename: N J
authors.initials: NJ
authors.lastname: Froggatt
authors.forename: R
authors.initials: R
authors.lastname: Davies
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: R
authors.initials: R
authors.lastname: Trembath
authors.forename: D E
authors.initials: DE
authors.lastname: Barton
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D018222:Desmoid Tumors / Q000235:genetics*; D017491:Genes, APC; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D017931:DNA Primers