SMARCA4 is detected as a mutational cancer driver in Head and neck squamous cell carcinoma. SMARCA4 reports in Head and neck squamous cell carcinoma (HNSC)
2006-10-17 · Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner.
Background: SMARCA4 is gene whose protein product participates in chromatin remodeling. Somatic mutations in this gene are associated with non-small cell lung cancer and malignant rhabdoid tumors, and both germline and somatic mutations are seen with small cell carcinoma of the ovary, hypercalcemic type. BRG1 (or SMARCA4) is the most frequently mutated chromatin remodeling ATPase in cancer. Mutations in this gene were first recognized in human cancer cell lines derived from adrenal gland [10] and lung. [11] The most common alterations in SMARCA4 are SMARCA4 Mutation (3.78%), SMARCA4 Amplification (0.28%), SMARCA4 Loss (0.10%), SMARCA4 T910M (0.09%), and SMARCA4 R1192H (0.04%) . SMARCA4 GENIE Cases - Top Alterations SMARCA4 Mutation is an inclusion criterion in 2 clinical trials for central nervous system neuroblastoma, of which 2 are open and 0 are closed.
AU - Muppala, Reshma. AU - Donenberg, Talia. AU - Huang, Marilyn S. AU - Schlumbrecht, Matthew P. PY - 2017/11. Y1 - 2017/11.
SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) is a protein-coding gene. Diseases associated with SMARCA4 include mental retardation, autosomal dominant 16, and rhabdoid tumor predisposition syndrome 2.
Without the functional Recently, mutations in a. 2nd locus of the SWI/SNF complex, the SMARCA4 gene , also known as BRG1, were found in rhabdoid tumors with retention of The SMARCA4 gene mutations involved in Coffin-Siris syndrome are germline mutations, which means that they are present in cells throughout the body. The mutations change single protein building blocks (amino acids) in or remove an amino acid from the BRG1 protein. Therefore, mutations of SMARCA4 represent a genetic factor leading to adverse clinical outcome in lung adenocarcinoma treated by either nonimmunotherapy or immunotherapy.
SMARCA4 Mutation is an inclusion criterion in 2 clinical trials for desmoplastic/nodular medulloblastoma, of which 2 are open and 0 are closed. Of the trials that contain SMARCA4 Mutation and desmoplastic/nodular medulloblastoma as inclusion criteria, 1 is phase 2 (1 open) and 1 is phase 4 (1 open) [ 5 ].
Almost nothing is known about the other familiar members of the SWI/SNF complexes, SMARCA2 (BRM), SMARCA4 (BRG1) and SMARCB1 (INI1), in oesophageal adenocarcinoma (EAC).
The reduced gene activity likely decreases or alters protein production, which would lead to changes in SWI/SNF complexes. These changes may impair normal cell differentiation, which leads to the overgrowth of certain cell types, causing cancer. 2020-01-06 · Background The SWI/SNF complex is an important chromatin remodeler, commonly dysregulated in cancer, with an estimated mutation frequency of 20%. ARID1A is the most frequently mutated subunit gene. Almost nothing is known about the other familiar members of the SWI/SNF complexes, SMARCA2 (BRM), SMARCA4 (BRG1) and SMARCB1 (INI1), in oesophageal adenocarcinoma (EAC).
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Keywords: KRAS; SMARCA4 mutation; immunotherapy; lung adenocarcinoma; nonimmunotherapy; prognostics biomarker. SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) is a gene that encodes a protein that functions in the regulation of transcription via its helicase and ATPase activity. SMARCA4 is gene whose protein product participates in chromatin remodeling. Somatic mutations in this gene are associated with non-small cell lung cancer and malignant rhabdoid tumors, and both germline and somatic mutations are seen with small cell carcinoma of the ovary, hypercalcemic type. To date, there are no data identifying an association with more common epithelial carcinomas of the ovary.
This complex uses the energy of ATP hydrolysis to modify the interactions among histones leading to modifications of the chromatin structure and to the regulation of gene expression. 2006-10-17 · Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. SMARCA4 reports Methods; Mutation distribution; Gene details SMARCA4 Ensembl ID ENSG00000127616
T1 - SMARCA4 germline gene mutation in a patient with epithelial ovarian.
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Individual genes were queried for distribution and enrichment among the patients with and without SMARCA4 alterations. Frequencies of gene alterations by SMARCA4 alteration were considered significant with a P value < 0.05 and, to reduce false discovery in multiple testing, FDR q value < 0.10.
(2014) identified 4 different germline heterozygous mutations in the SMARCA4 gene (603254 2019-03-05 The SMARCA4 gene provides instructions for making a protein called BRG1, which forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) is a gene that encodes a protein that functions in the regulation of transcription via its helicase and ATPase activity.
SMARCA4, a central component of the SWI/SNF chromatin-remodeling complex, has been identified as a tumor suppressor gene [227,228]. Several rhabdoid tumors were found to carry inactivating mutations, while SMARCA4 expression is silenced in many human tumor cell lines and tumor tissue. Individual genes were queried for distribution and enrichment among the patients with and without SMARCA4 alterations. Frequencies of gene alterations by SMARCA4 alteration were considered significant with a P value < 0.05 and, to reduce false discovery in multiple testing, FDR q value < 0.10. Tumor suppressor SMARCA4 (BRG1), a key SWI/SNF chromatin remodeling gene, is frequently inactivated in cancers and is not directly druggable.
The reduced gene activity likely decreases or alters protein production, which would lead to changes in SWI/SNF complexes. These changes may impair normal cell differentiation, which leads to the overgrowth of certain cell types, causing cancer. Blueprint Genetics' SMARCA4 single gene test SMARCA4 single gene test. including the role of the specific gene in human disease, the mutation profile, Plasmid K785R Smarca4-sfGFP from Dr. Courtney Hodges's lab contains the insert SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 and is published in Nat Struct Mol Biol. 2018 Jan;25(1):61-72. doi: 10.1038/s41594-017-0007-3.