SMARCB1

SMARCB1

A gene on chromosome 22q11.23 that encodes a core component of the ATP-dependent chromatin-remodelling BAF (hSWI/SNF) complex, which plays key roles in cell proliferation and differentiation and has antiviral and anti-tumour activity.

Molecular pathology
Defects in SMARCB1 rhabdoid tumour predisposition syndrome type 1, schwannomatosis and mental retardation, autosomal dominant type 1.
References in periodicals archive ?
Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.
The morphologic diagnosis of SNUC can be very challenging, as it is one of the so-called small round blue cell tumors with a long list of differential diagnoses including poorly differentiated SCC, nasopharyngeal undifferentiated carcinoma, small cell undifferentiated neuroendocrine carcinoma, rhabdomyosarcoma, MM, olfactory neuroblastoma, high-grade lymphoma, recently identified NUT midline carcinoma, and SMARCB1 (INI1)-deficient sinonasal carcinoma.
Genes Tested AtP ALK APC ATM BAP1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CEP57 CHEK2 CYLD DDB2 DICER1 ERCC3 ERCC4 ERCC5 EXT1 EXT2 FANCD2 FANCE FANCF FANCG FANCI GATA2 GPC3 HNF1A HOXB13 HRAS MLH1 MHS2 MSH6 MUTYH NBN PHOX2B PMS1 PMS2 PPM1D PRF1 RAD51D RBI RECQL4 RET RHBDF2 SDHC SDHD SLX4 SMAD4 SMARCA4 TP53 TSC1 TSC2 VHL WT1 BARD1 BLM BMPR1A BRCA1 CDK4 CDKN1C CDKN2A CEBPA DI53L2 EGFR EPCAM ERCC2 EZH2 FANCA FANCB FANCC FANCL FANCM FH FLCN KIT MAX MEN1 MET NF1 NF2 NSD1 PALB2 PRKAR1A PTCH1 PTEN RAD51C RUN XI SBDS SDHAF2 SDHB SMARCB1 STK11 5UFU TMEM127 WRN XPA XPC This chart shows all 98 cancer susceptible genes included in this new test.
En cuanto a mutaciones especificas se ha asociado al tumor teratoideo/rabdoide atipico el gen SMARCB1, y alteraciones genomicas del BRAF, en especial la fusion del KIAA1549 y BRAF (22), y la activacion de la via ERK/MAPK; tambien se ha observado asociacion a mutaciones en histona H3.
2 cuya delecion o mutacion esta presente en mas del 90% de los pacientes con AT/RT (2) causando alteracion de proteinas nucleares e inactivando el gen supresor de tumores SMARCB1.
The common genetic basis for rhabdoid tumours is a deletion and/or mutation of the INI1 gene on chromosome 22 (22q11), inactivating the tumour suppressor gene SMARCB1, though these tumours can lack this mutation as seen in this case.
Nonetheless, this tumor type is readily defined via the elucidation of SMARCB1 protein loss or related mutations or deletions in SMARCB1, a gene (previously widely known as INI1) involved in the SWI/SNF chromatin remodeling complex.
18) Binding of the SS18-SSX fusion protein to the SWI/SNF complex has been associated with a reduction in the binding of the tumor suppressor SMARCB1 to the complex and overall depletion of SMARCB1 in synovial sarcoma cell lines.
Balanced translocations disrupting SMARCB1 are hallmark recurrent genetic alterations in renal medullary carcinomas [published online ahead of print September 30, 2015].
It uses 10 ng of DNA to analyze more than 2800 mutations across 50 known oncogenes and tumor suppressor genes including ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAS, GNAQ, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, and VHL.
The primers used target 207 hotspots covering 50 genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZF2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, and VHL (Ion AmpliSeq Cancer Hopspot Panel v2; Life Technologies).
The panel contains probes to generate 212 amplicons from 48 cancer-related genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, and VHL.