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Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

Authors :
Schneppenheim R
Frühwald MC
Gesk S
Hasselblatt M
Jeibmann A
Kordes U
Kreuz M
Leuschner I
Martin Subero JI
Obser T
Oyen F
Vater I
Siebert R
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.)

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