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Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2010 Feb 12; Vol. 86 (2), pp. 279-84. Date of Electronic Publication: 2010 Feb 04. - Publication Year :
- 2010
-
Abstract
- Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor predisposition syndrome (RTPS), have been linked to heterozygous SMARCB1 germline mutations. We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. SMARCA4 is thus a second member of the SWI/SNF complex involved in cancer predisposition. Its general involvement in other tumor entities remains to be established.<br /> (Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Base Sequence
DNA Helicases chemistry
DNA Mutational Analysis
Fatal Outcome
Female
Humans
Immunohistochemistry
Infant
Magnetic Resonance Imaging
Male
Molecular Sequence Data
Nuclear Proteins chemistry
Pedigree
Rhabdoid Tumor pathology
Syndrome
Transcription Factors chemistry
Codon, Nonsense genetics
DNA Helicases genetics
Gene Silencing
Genetic Predisposition to Disease
Germ-Line Mutation genetics
Nuclear Proteins genetics
Rhabdoid Tumor genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1537-6605
- Volume :
- 86
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 20137775
- Full Text :
- https://doi.org/10.1016/j.ajhg.2010.01.013