title: Lack of mutations in the TP53 tumor suppressor gene exons 5 to 8 in Fanconi's anemia.
abstract: The TP53 gene is considered to be a negative regulator of cell growth whose inactivation is an important step in the development or progression of malignancies. Recently, germ line TP53 mutations have been detected in a familial cancer syndrome, the dominantly inherited Li-Fraumeni syndrome. Using single strand conformation polymorphism analysis of PCR products, we looked for TP53 mutations in DNA of patients with Fanconi anemia, an autosomal recessive disease characterized by increased predisposition to neoplasia. We did not find any TP53 mutation in 13 patients, suggesting that this tumor suppressor gene is not directly involved in the cancer susceptibility observed in Fanconi's anemia.
authors.affiliation: INSERM U.301, Institut de Génétique Moléculaire, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
authors.forename: M
authors.initials: M
authors.lastname: Le Coniat
authors.forename: D
authors.initials: D
authors.lastname: Grausz
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D000368:Aged; D001483:Base Sequence; D004198:Disease Susceptibility; D005091:Exons / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics