|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia.
|
23637025 |
2013 |
|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that SMARCA4 constitutional mutations associated with CSS are not necessarily non-truncating, and that haploinsufficiency may explain milder CSS phenotypes, as previously reported for haploinsufficient ARID1B.
|
28608987 |
2017 |
|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, mutations in the same positions were reported in malignant tumors, and a de novo missense substitution in an equivalent arginine residue in the C-terminal helicase domain of SMARCA4 is associated with Coffin Siris syndrome.
|
27616479 |
2016 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
BEFREE |
In summary, SMARCA4-associated CSS is a pleiotropic disorder in which the pathognomic clinical features evolve and for which the few reported individuals do not demonstrate a clear genotype-phenotype correlation.
|
24700502 |
2014 |
|
Coffin-Siris syndrome
|
0.570 |
AlteredExpression
|
disease |
BEFREE |
The regulation of ATM/ATR is rendered non-functional in Schimke Immuno-Osseous Dysplasia where SMARCAL1 is mutated and in Coffin-Siris Syndrome where BRG1 is mutated.
|
30317028 |
2018 |
|
Coffin-Siris syndrome
|
0.570 |
AlteredExpression
|
disease |
BEFREE |
The importance of BRG1/RNA and BRG1/homeodomain interactions in neurodevelopmental disorders is underscored by the finding that mutations in Coffin-Siris syndrome, a human intellectual disability disorder, localize to the BRG1 RNA-binding and DLX1-binding domains.
|
26138476 |
2015 |
|
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Coffin-Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg-1 associated factors (BAF) complex.
|
30276971 |
2018 |
|
ovarian neoplasm
|
0.530 |
Biomarker
|
disease |
BEFREE |
We recently uncovered that SMARCA4 loss in an ovarian cancer subtype causes cyclin D1 deficiency leading to susceptibility to CDK4/6 inhibition.
|
30718506 |
2019 |
|
ovarian neoplasm
|
0.530 |
AlteredExpression
|
disease |
BEFREE |
Some lung and ovarian tumors are connected to the loss of expression of SMARCA4 gene.
|
31676783 |
2019 |
|
ovarian neoplasm
|
0.530 |
Biomarker
|
disease |
BEFREE |
Previous studies have described the value of SMARCA4 IHC to differentiate SCCOHT from ovarian neoplasms (ON), with similar histologic appearances.
|
31844183 |
2020 |
|
Malignant neoplasm of ovary
|
0.510 |
Biomarker
|
disease |
BEFREE |
We recently uncovered that SMARCA4 loss in an ovarian cancer subtype causes cyclin D1 deficiency leading to susceptibility to CDK4/6 inhibition.
|
30718506 |
2019 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
BRG1/SMARCA4 inactivation promotes non-small cell lung cancer aggressiveness by altering chromatin organization.
|
25115300 |
2014 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
Collectively, BRG1 loss is an important mechanism for the epigenetic silencing of target genes during NSCLC development.
|
24445599 |
2014 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The alterations were significantly more frequent in the non-small-cell lung cancer (NSCLC) type (13/37, 35%) as compared to the small-cell lung cancer (SCLC) type (1/19, 5%) (P<0.05; Fisher's Exact test) and BRG1 was the fourth most frequently altered gene in NSCLC cell lines.
|
18386774 |
2008 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Furthermore, SMARCA4 loss is synthetic lethal with CDK4/6 inhibition both in vitro and in vivo, suggesting that FDA-approved CDK4/6 inhibitors could be effective to treat this significant subgroup of NSCLCs.
|
30718506 |
2019 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
In conclusion, SMARCA4 and SMARCA2 deficiency is observed in 5.1% and 4.8% of NSCLC, respectively.
|
28038711 |
2017 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
AURKA inhibitors may provide a therapeutic strategy for biomarker-driven clinical studies to treat the NSCLCs harbouring SMARCA4/BRG1-inactivating mutations.
|
28102363 |
2017 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Correlations between a response to immune checkpoint inhibitors and the SWI/SNF complex have been suggested, but little is known about the efficacy of immune checkpoint inhibitors against SMARCA4-deficient NSCLC.
|
30972962 |
2019 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We describe 20 NSCLC cases found on routine screening not to express SMARCA4 by immunohistochemistry (IHC).
|
28555282 |
2017 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemical analysis of a cohort of non-small-cell lung carcinomas (NSCLC) indicated that 15.5% (16 of 103) of the cohort, corresponding to preferentially undifferentiated tumors, was deficient in BRG1 expression.
|
23872584 |
2013 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we tested whether targeting one of the two mutually exclusive subdomains of the SWI/SNF complex BRM/SMARCA2 can sensitize specifically non-small cell lung carcinoma (NSCLC) cells with mutations in the other subunit BRG1/SMARCA4 toward ionizing radiation (IR).
|
30478150 |
2019 |
|
Non-Small Cell Lung Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The genomic alterations of CDKN2A, FAS, SUFU and SMARCA4 in early-stage NSCLC are found to be associated with recurrence, but confirmation in a larger independent cohort is required to define the clinical impact.
|
30555633 |
2018 |
|
Small cell carcinoma of lung
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
|
28608987 |
2017 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
In conclusion, SMARCA4 immunohistochemistry represents a highly valuable emerging tool in identifying small cell carcinoma of the ovary, hypercalcemic type in routine practice.
|
26123103 |
2015 |
|
Small cell carcinoma of lung
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
MAX inactivation in small cell lung cancer disrupts MYC-SWI/SNF programs and is synthetic lethal with BRG1.
|
24362264 |
2014 |