title: Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française.
abstract: Constitutional DNA from 44 selected patients suspected of being genetically predisposed to develop astrocytic tumors was analyzed for germline mutations of the p53, p16, and PTEN genes. Six constitutional missense mutations of the p53 gene were identified (13.6%), but no mutations of the p16 and PTEN genes were found, suggesting that (1) germline p53 mutations contribute to a small portion of astrocytic tumors, (2) inherited mutations of the p16 and PTEN gene do not predispose to the development of gliomas, and (3) other genes are involved in glioma predisposition.
authors.affiliation: INSERM U434-CEPH, Shanghai, China.
authors.forename: X P
authors.initials: XP
authors.lastname: Zhou
authors.forename: M
authors.initials: M
authors.lastname: Sanson
authors.forename: K
authors.initials: K
authors.lastname: Hoang-Xuan
authors.forename: E
authors.initials: E
authors.lastname: Robin
authors.forename: L
authors.initials: L
authors.lastname: Taillandier
authors.forename: J
authors.initials: J
authors.lastname: He
authors.forename: K
authors.initials: K
authors.lastname: Mokhtari
authors.forename: P
authors.initials: P
authors.lastname: Cornu
authors.forename: J Y
authors.initials: JY
authors.lastname: Delattre
authors.forename: G
authors.initials: G
authors.lastname: Thomas
authors.forename: R
authors.initials: R
authors.lastname: Hamelin
mesh_terms: D019943:Amino Acid Substitution; D001254:Astrocytoma / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D005091:Exons; D005190:Family; D005260:Female; D016147:Genes, Tumor Suppressor; D019942:Genes, p16; D016158:Genes, p53; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D005910:Glioma / Q000235:genetics*; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000235:genetics; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017354:Point Mutation; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D025521:Tumor Suppressor Proteins
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D016159:Tumor Suppressor Protein p53; D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human