|
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 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
BEFREE |
Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT).
|
29423809 |
2018 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
BEFREE |
Selective Killing of SMARCA2- and SMARCA4-deficient Small Cell Carcinoma of the Ovary, Hypercalcemic Type Cells by Inhibition of EZH2: <i>In Vitro</i> and <i>In Vivo</i> Preclinical Models.
|
28292935 |
2017 |
|
Carcinoma, Small Cell
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type.
|
29102090 |
2017 |
|
Carcinoma, Small Cell
|
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 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
BEFREE |
The most successful approaches that have been clinically validated so far include the targeting of the BRD4-NUT fusion transcript in NUT-midline carcinoma by BET (Bromodomain Extra-Terminal) inhibitors, and the use of EZH2 (Enhancer of Zest Homolog 2) inhibitors in SMARCB1-deficient malignant rhabdoid tumors and SMARCA4-deficient ovarian small cell carcinomas.
|
28426098 |
2017 |
|
Carcinoma, Small Cell
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type.
|
26564006 |
2016 |
|
Carcinoma, Small Cell
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We focus on adult granulosa cell tumours (somatic monoallelic mutations in FOXL2), Sertoli-Leydig cell tumours, gynaecological embryonal rhabdomyosarcomas (germline and somatic mutations in DICER1), and small-cell carcinoma of the ovary, hypercalcaemic type (biallelic mutations in SMARCA4).
|
27504996 |
2016 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type.
|
26356327 |
2016 |
|
Carcinoma, Small Cell
|
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 |
|
Carcinoma, Small Cell
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
|
25307865 |
2015 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
CTD_human |
To help define the nosological relationships of these tumors, we compared their transcriptomic profiles with those of SMARCA4-mutated small-cell carcinomas of the ovary, hypercalcemic type (SCCOHTs), SMARCB1-inactivated malignant rhabdoid tumors (MRTs) and lung carcinomas (of which 10% display SMARCA4 mutations).
|
26343384 |
2015 |
|
Carcinoma, Small Cell
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
|
24658004 |
2014 |
|
Carcinoma, Small Cell
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
|
24658002 |
2014 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
CTD_human |
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
|
24658004 |
2014 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
CTD_human |
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
|
24658002 |
2014 |
|
Carcinoma, Small Cell
|
0.400 |
Biomarker
|
disease |
CTD_human |
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
|
24658001 |
2014 |