SWI/SNF chromatin remodeling complexes and cancer.
Am J Med Genet C Semin Med Genet
; 166C(3): 350-66, 2014 Sep.
Article
em En
| MEDLINE
| ID: mdl-25169151
ABSTRACT
The identification of mutations and deletions in the SMARCB1 locus in chromosome band 22q11.2 in pediatric rhabdoid tumors provided the first evidence for the involvement of the SWI/SNF chromatin remodeling complex in cancer. Over the last 15 years, alterations in more than 20 members of the complex have been reported in a variety of human tumors. These include germline mutations and copy number alterations in SMARCB1, SMARCA4, SMARCE1, and PBRM1 that predispose carriers to both benign and malignant neoplasms. Somatic mutations, structural abnormalities, or epigenetic modifications that lead to reduced or aberrant expression of complex members have now been reported in more than 20% of malignancies, including both solid tumors and hematologic disorders in both children and adults. In this review, we will highlight the role of SMARCB1 in cancer as a paradigm for other tumors with alterations in SWI/SNF complex members and demonstrate the broad spectrum of mutations observed in complex members in different tumor types.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
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Proteínas Nucleares
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Proteínas Cromossômicas não Histona
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DNA Helicases
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Montagem e Desmontagem da Cromatina
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Proteínas de Ligação a DNA
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Neoplasias
Tipo de estudo:
Prognostic_studies
Limite:
Animals
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Humans
Idioma:
En
Revista:
Am J Med Genet C Semin Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2014
Tipo de documento:
Article