The mutations change single protein building blocks (amino acids) in or remove an amino acid from the BRG1 protein. 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 and lung. Later it was recognized that mutations exist in a significant frequency of medulloblastoma and pancreatic cancers, and in many other tumor subtypes.

Smarca4 gene mutation

Jelinic et al. (2014) identified biallelic inactivating somatic mutations in the SMARCA4 gene in 100% of 12 SCCOHT samples. The mutations were found by exome sequencing of 279 cancer-related genes in these tumors and were confirmed by Sanger sequencing. Gene name: SMARCA4 (HGNC Symbol) Synonyms: BAF190, BRG1, FLJ39786, hSNF2b, SNF2, SNF2-BETA, SNF2L4, SNF2LB, SWI2: Description: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (HGNC Symbol) Chromosome: 19: Cytoband: p13.2: Chromosome location (bp) 10960825 - 11079426: Number of transcripts i Here we screened for mutations the entire coding sequence of BRG1 (SMARCA4), which encodes the ATPase of the complex, in 59 lung cancer cell lines of the most common histopathological types.

These 14 LADC cell lines included five expressing wild-type SMARCA4 (SMARCA4 WT; H1975, H2228, H2347, RERF-LC-OK and PC9), seven expressing mutated SMARCA4 (SMARCA4 MUT cells, no SMARCA4: A427, A549, H1299, H1819 and H322; low SMARCA4 expression: PC14; and helicase ATP-binding domain largely deleted-SMARCA4 expression: RERF-LC-MS) and two expressing as yet uncharacterized SMARCA4 mutations SMARCA4 reports Methods; Mutation distribution; Gene details SMARCA4 Ensembl ID ENSG00000127616 This approach, called IMPACT, found that all 12 samples had a mutation in a gene called SMARCA4.

Heterozygous mutations in SMARCA4 are also associated with Coffin Siris syndrome (4). Truncating mutations in the SMARCA4 gene typically lead to RTPS ,. Jan 24, 2020 harbor mutations in.

Mutations in this gene cause rhabdoid tumor Dec 23, 2020 SCCOHT tumors have inactivating mutations in SMARCA4 (BRG1), one BRG1 reexpression induced a gene and protein signature similar to Dec 3, 2020 20 Genetic alterations causing loss of function of the SMARCB1 tumor suppressor gene (also known as INI1 and hSNF5) are characteristic and 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 (BRG1) subunit is mutated in 10 to 35% of non-small-cell lung ( ii) The gene mutation status for SMARCA4 in cancer cell lines was next Apr 4, 2014 SMARCA4 mutations were discovered in over two-thirds of tumor samples in a 12 -patient study. Loss of SMARCA4 protein expression was found Oct 19, 2018 of Brahma Homolog (BRM)/SMARCA2 ATPase Activity for the Treatment of Brahma Related Gene 1 (BRG1)/SMARCA4-Mutant Cancers. Apr 9, 2020 Somatic mutations in SMARCA4 (SWI/SNF–related, matrix-associated, actin- dependent regulator of chromatin, subfamily A, member 4) gene (proteolysis-targeting chimera) degrader of the BAF chromatin remodeling ATPase subunits SMARCA2 and SMARCA4 as well as the facultative BAF complex COSM710132; Gene name: SMARCA4; AA mutation. p.P109L (Substitution - Missense, position 109, P➞L). CDS mutation.

doi: 10.1038/s41594-017-0007-3. Blueprint Genetics' SMARCA4 single gene test SMARCA4 single gene test.
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Methods We analysed a large SMARCA4 SWI/SNF related, Mutation Public 20Q4. A score of 0 is equivalent to a gene that is not essential whereas a score of -1 corresponds to the median of These 14 LADC cell lines included five expressing wild-type SMARCA4 (SMARCA4 WT; H1975, H2228, H2347, RERF-LC-OK and PC9), seven expressing mutated SMARCA4 (SMARCA4 MUT cells, no SMARCA4: A427, A549, H1299, H1819 and H322; low SMARCA4 expression: PC14; and helicase ATP-binding domain largely deleted-SMARCA4 expression: RERF-LC-MS) and two expressing as yet uncharacterized SMARCA4 mutations 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 (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.
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The SMARCA4 gene is associated with an increased risk of autosomal dominant small cell carcinoma of the ovary, hypercalcemic type ( SCCOHT) ( PMID: 24658002, 24658001) and Coffin-Siris syndrome (MedGen UID: 766163). Studies also suggested SMARCA4 may be associated with autosomal dominant rhabdoid tumor predisposition syndrome A mutation in the SMARCA4 gene can cause Coffin-Siris syndrome, but can also give rise to several cancer predisposition syndromes. Frequently identified features in Coffin-Siris syndrome are intellectual disability, feeding difficulties, coarse facial features, speech delay, small or absent fifth finger or toe nail(s) and hypertrichosis.

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The association between SMARCA4 alteration and undifferentiated colonic carcinoma needs to be further elucidated. A 61-year-old male patient presented to the hospital with intermittent epigastric pain in the right upper abdomen and SMARCA4 reports in Neuroblastoma (NB) Methods; Mutation distribution; Cancer type details Neuroblastoma Cohorts 6 Samples 562 Mutations 99,664 Driver genes 20 Gene details SMARCA4 Ensembl ID ENSG00000127616 Transcript ID ENST00000344626 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).