Smarca4 gene mutation

It is noteworthy that the frequency of SMARCA4 loss varies 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. Tumor tissue from both patients also carried a somatic truncating mutation in the SMARCA4 gene, consistent with the '2-hit' hypothesis of tumorigenesis. In affected members of 4 unrelated families with RTPS2 presenting as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), Witkowski et al. (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.

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. 2020-12-17 · Atypical teratoid/rhabdoid tumors (ATRTs) are very aggressive childhood malignancies of the central nervous system. The underlying genetic cause are inactivating bi-allelic mutations in SMARCB1 or (rarely) in SMARCA4. ATRT-SMARCA4 have been associated with a higher frequency of germline mutations, younger age, and an inferior prognosis in comparison to SMARCB1 mutated cases.

Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. These polymorphisms impair the function of the promoter and reduce the expression of the SMARCA2 gene.

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.

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila.

All but one SCCOHT cases exhibited 19p13.2-3 copy-neutral LOH. SMARCA4 deleterious mutations were recurrent and accompanied by loss of expression of the SMARCA2 paralog. 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. Mutations were detected in 24% of the cancer cell lines, many of them in cells commonly used for lung cancer research.
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SMARCA4 Mutation is present in 3.78% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence . Top Disease Cases with SMARCA4 Mutation.

CDS mutation. c.326C>T (Substitution, position 326, The KRAS-variant is an inherited genetic mutation associated breast cancer,1 ovarian cancer,4 lung cancer,5 as well as other cancers,6,7 and multiple cancers 2 May 2019 The mutagenic effects of 79 known or suspected carcinogens are presented and reveal insights into the kinds of mutations induced as well as Heterozygous mutations in SMARCA4 are also associated with Coffin Siris syndrome (4).
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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. Gene symbol: Chromosomal location: Gene name: Mutation total: Log in: SMARCA4: 19p13.2: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4: 45 NCBI Description of SMARCA4: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes.