title: Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method.
abstract: The p53 tumor suppressor gene is the most commonly altered gene in human cancers. Germline mutations in p53 are the genetic alteration underlying predisposition to multiple cancers in Li-Fraumeni syndrome and Li-Fraumeni-like syndrome. We describe a patient who presented with developed adrenocortical carcinoma at age 19 months and a cerebral primitive neuroectodermal tumor at age 5 years. The patient did not have a family history of cancer. We used the enzyme mismatch cleavage (EMC) method to screen for mutations in the p53 gene and found a germline mutation in exon 7 (codon 248). Loss of heterozygosity analysis in one tumor revealed loss of the wild-type p53 allele. In our report we demonstrate the EMC method to be a rapid and sensitive method for mutation detection.
authors.affiliation: Murdoch Institute, Melbourne, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Giunta
authors.forename: R
authors.initials: R
authors.lastname: Youil
authors.forename: D
authors.initials: D
authors.lastname: Venter
authors.forename: C W
authors.initials: CW
authors.lastname: Chow
authors.forename: G
authors.initials: G
authors.lastname: Somers
authors.forename: A
authors.initials: A
authors.lastname: Lafferty
authors.forename: B
authors.initials: B
authors.lastname: Kemper
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
mesh_terms: D018268:Adrenocortical Carcinoma / Q000235:genetics*; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D017353:Gene Deletion; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics*; D017599:Neuroectodermal Tumors / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA