title: Case report: an inherited APC mutation in the first reported Australian case of Turcot's syndrome.
abstract: The objective of this study was to determine the inherited gene mutation responsible for the first reported Australian case of Turcot's syndrome. DNA was extracted from the archival tissue blocks obtained at the time of the patient's original surgery and from fresh blood samples obtained from selected family members. These were analysed for mutations of the familial adenomatous polyposis gene (APC). Analysis of DNA from the archival blocks and from each of the affected family members revealed an inherited 5 base pair deletion at codon 1061 of APC. In this case, the central nervous system tumour represents an extracolonic manifestation of familial adenomatous polyposis. The underlying inherited mutation of APC has been identified. In some cases of Turcot's syndrome, other genes appear to be involved. Recent literature examining the molecular basis of Turcot's syndrome is reviewed.
authors.affiliation: Department of Molecular Genetics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Tomaras
authors.forename: D M
authors.initials: DM
authors.lastname: Painter
authors.forename: N J
authors.initials: NJ
authors.lastname: Basha
authors.forename: D J
authors.initials: DJ
authors.lastname: Koorey
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D002528:Cerebellar Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008527:Medulloblastoma / Q000235:genetics*; D008969:Molecular Sequence Data; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion