|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
CTD_human |
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
|
22426308 |
2012 |
|
Coffin-Siris syndrome
|
0.570 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
|
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 |
CTD_human |
SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas.
|
26343384 |
2015 |
|
ovarian neoplasm
|
0.530 |
Biomarker
|
disease |
CTD_human |
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
|
24658002 |
2014 |
|
ovarian neoplasm
|
0.530 |
Biomarker
|
disease |
CTD_human |
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
|
24658004 |
2014 |
|
ovarian neoplasm
|
0.530 |
Biomarker
|
disease |
CTD_human |
We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors.
|
24658001 |
2014 |
|
ovarian neoplasm
|
0.530 |
CausalMutation
|
disease |
CGI |
|
|
|
|
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 |
|
Malignant neoplasm of ovary
|
0.510 |
Biomarker
|
disease |
CTD_human |
SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas.
|
26343384 |
2015 |
|
Malignant neoplasm of ovary
|
0.510 |
Biomarker
|
disease |
CTD_human |
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
|
24658004 |
2014 |
|
Malignant neoplasm of ovary
|
0.510 |
Biomarker
|
disease |
CTD_human |
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
|
24658002 |
2014 |
|
Malignant neoplasm of ovary
|
0.510 |
Biomarker
|
disease |
CTD_human |
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
|
24658001 |
2014 |
|
Malignant neoplasm of ovary
|
0.510 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Sarcoma
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Newly discovered uterine sarcoma subtypes include high-grade endometrial stromal sarcomas with BCOR genetic abnormalities, fibrosarcoma-like uterine sarcomas with NTRK rearrangements and COL1A-PDGFRB fusions, as well as undifferentiated uterine sarcomas with SMARCA4 mutations.
|
31846533 |
2020 |
|
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 |
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 |
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 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
P40 and NUT were not expressed (0/23 and 0/20, respectively) The SMARCA4-DTS immunohistochemical signature was both sensitive and specific, with only a subset of small cell carcinoma of the ovary hypercalcemic type showing overlapping phenotypes.
|
30451731 |
2019 |
|
Small cell carcinoma of lung
|
0.400 |
Biomarker
|
disease |
BEFREE |
One such perturbation is the dual loss of the SMARCA4 and SMARCA2 ATPase subunits in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)<sup>2-5</sup>, SMARCA4-deficient thoracic sarcomas<sup>6</sup> and dedifferentiated endometrial carcinomas<sup>7</sup>.
|
30858614 |
2019 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
BEFREE |
P40 and NUT were not expressed (0/23 and 0/20, respectively) The SMARCA4-DTS immunohistochemical signature was both sensitive and specific, with only a subset of small cell carcinoma of the ovary hypercalcemic type showing overlapping phenotypes.
|
30451731 |
2019 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
BEFREE |
One such perturbation is the dual loss of the SMARCA4 and SMARCA2 ATPase subunits in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)<sup>2-5</sup>, SMARCA4-deficient thoracic sarcomas<sup>6</sup> and dedifferentiated endometrial carcinomas<sup>7</sup>.
|
30858614 |
2019 |
|
Sarcoma
|
0.400 |
Biomarker
|
group |
BEFREE |
Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients.
|
30762113 |
2019 |