title: Mutational analysis of hSNF5/INI1 and TP53 genes in choroid plexus carcinomas.
abstract: We report here the mutational analysis of hSNF5/INI1 and TP53 genes performed on 11 specimens of choroid plexus carcinomas (CPC) in which a large number of abnormalities has been detected by molecular biology techniques. Loss of heterozygosity (LOH) analysis performed on six tumors revealed losses on chromosomes 1, 3, 5, 9, 10, 13, 16, 18, and 22. However, there were no abnormalities on 17p and mutations of the TP53 gene have been observed for two tumors comprising exons 5 and 7, respectively. Exon 4 of hSNF5/INI1 was mutated in one tumor with LOH restricted to the hSNF5/INI1 locus. There was no coexistence of mutations in both analyzed genes. Our analysis confirms the presence of the hSNF5/INI1 mutations and proves involvement of TP53 mutations in sporadic cases of CPC.
authors.affiliation: Department of Molecular Pathology and Neuropathology, Chair of Oncology, Medical University of Lodz, Czechoslowacka 8/10, 92-216 Lodz, Poland. madziazakrzewska@wp.pl
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zakrzewska
authors.forename: Izabela
authors.initials: I
authors.lastname: Wojcik
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Zakrzewski
authors.forename: Lech
authors.initials: L
authors.lastname: Polis
authors.forename: Wieslawa
authors.initials: W
authors.lastname: Grajkowska
authors.forename: Marcin
authors.initials: M
authors.lastname: Roszkowski
authors.forename: Brian J
authors.initials: BJ
authors.lastname: Augelli
authors.forename: Pawel P
authors.initials: PP
authors.lastname: Liberski
authors.forename: Piotr
authors.initials: P
authors.lastname: Rieske
mesh_terms: D001483:Base Sequence; D002648:Child; D016545:Choroid Plexus Neoplasms / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D016133:Polymerase Chain Reaction; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D017931:DNA Primers; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors