title: Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.
abstract: We have analysed Li-Fraumeni syndrome families, previously shown to be negative for mutations in TP53, for mutations to the tumour suppressor genes PTEN and CDKN2. These genes function in cell cycle progression or are mutated in a variety of tumours. We have detected no mutations in the family members tested.
authors.affiliation: CRC Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, UK.
authors.forename: E C
authors.initials: EC
authors.lastname: Burt
authors.forename: G
authors.initials: G
authors.lastname: McGown
authors.forename: M
authors.initials: M
authors.lastname: Thorncroft
authors.forename: L A
authors.initials: LA
authors.lastname: James
authors.forename: J M
authors.initials: JM
authors.lastname: Birch
authors.forename: J M
authors.initials: JM
authors.lastname: Varley
mesh_terms: D004252:DNA Mutational Analysis; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D019942:Genes, p16; D016158:Genes, p53; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D009154:Mutation; D051059:PTEN Phosphohydrolase; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human