title: Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.
abstract: We examined 18 atypical teratoid and rhabdoid tumors of the brain and 7 renal and 4 extrarenal rhabdoid tumors for mutations in the candidate rhabdoid tumor suppressor gene, INI1. Fifteen tumors had homozygous deletions of one or more exons of the INI1 gene, and the other 14 tumors demonstrated mutations. Germ-line mutations of INI1 were identified in four children, one with an atypical teratoid tumor of the brain and three with renal rhabdoid tumors. These studies suggest that INI1 is a tumor suppressor gene involved in rhabdoid tumors of the brain, kidney, and other extrarenal sites.
authors.affiliation: The Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, 19104, USA. biegel@mail.med.upenn.edu
authors.forename: J A
authors.initials: JA
authors.lastname: Biegel
authors.forename: J Y
authors.initials: JY
authors.lastname: Zhou
authors.forename: L B
authors.initials: LB
authors.lastname: Rorke
authors.forename: C
authors.initials: C
authors.lastname: Stenstrom
authors.forename: L M
authors.initials: LM
authors.lastname: Wainwright
authors.forename: B
authors.initials: B
authors.lastname: Fogelgren
mesh_terms: D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D018335:Rhabdoid Tumor / Q000235:genetics*; D000071796:SMARCB1 Protein; D013724:Teratoma / Q000235:genetics*; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors