title: Mutational analysis of INI1 in sporadic human brain tumors.
abstract: The INI1/SMARCB1/hSNF5 gene on chromosome 22 is frequently mutated in rhabdoid tumors. An association of INI1 mutations with allelic losses on chromosome 22 supports a classical tumor suppressor mechanism. Several brain tumor entities including astrocytomas, glioblastomas and ependymomas are characterized by allelic losses on chromosome 22. In the present study we examined a series of 200 brain tumors by Single-strand conformation polymorphism analysis and direct sequencing for point mutations in INI1. In addition, all tumors were analyzed for homozygous deletions spanning both exons 3 and 8 of INI1. No mutations or homozygous deletions were detected in astrocytomas, glioblastomas, oligodendroglial tumors, neurinomas or medulloblastomas. However, a point mutation could be identified in the single case of plexus carcinoma. Our data suggest that INI1 mutations are involved in the pathogenesis of plexus carcinoma; however, INI1 alterations are not a frequent event in the majority of brain tumor entities.
authors.affiliation: Institute for Neuropathology, Charité, Humboldt University, Berlin, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Weber
authors.forename: F
authors.initials: F
authors.lastname: Stockhammer
authors.forename: U
authors.initials: U
authors.lastname: Schmitz
authors.forename: A
authors.initials: A
authors.lastname: von Deimling
mesh_terms: D001483:Base Sequence / Q000502:physiology; D001932:Brain Neoplasms / Q000235:genetics* / Q000503:physiopathology; D002868:Chromosomal Proteins, Non-Histone; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000502:physiology; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary / Q000235:genetics; D000071796:SMARCB1 Protein; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors; D004247:DNA