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Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy [GPL6983]

ABSTRACT: STAG2 is a novel UBC tumor suppressor acting through mechanisms that are different from its role to prevent aneuploidy

ORGANISM(S): Homo sapiens

PROVIDER: GSE51640 | GEO | 2013/10/24

SECONDARY ACCESSION(S): PRJNA224155

REPOSITORIES: GEO

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Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy [GPL6984]

Project description:STAG2 is a novel UBC tumor suppressor acting through mechanisms that are different from its role to prevent aneuploidy

2013-10-24 | GSE51589 | GEO

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy [GPL6984]

Project description:STAG2 is a novel UBC tumor suppressor acting through mechanisms that are different from its role to prevent aneuploidy Gene copy number analyses of STAG2 in urinary bladder tumors. R values were extracted from beadstudio and normalised using the pounds method. Log R Ratios were calculated using an average value of R from 200 cases and controls from the Epicuro study. WaviCGH was used to generate copy number calls and log R ratios in the region of STAG2 on the X chromosome were also visualised manually to determine STAG2 loss.

2013-10-24 | E-GEOD-51589 | biostudies-arrayexpress

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy [GPL6983]

2013-10-24 | E-GEOD-51640 | biostudies-arrayexpress

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Project description: Not available

| S-EPMC3840052 | biostudies-literature

Truncating mutations of STAG2 define a molecular subgroup of aneuploid bladder cancers with poor prognosis.

Project description:Aneuploidy is among the most common hallmarks of cancer, yet the underlying genetic mechanisms are still poorly defined. We have recently identified STAG2 as a gene that is mutated in human cancer and whose inactivation leads directly to chromosomal instability and aneuploidy. However, no single tumor type has yet been identified in which inactivation of a cohesin subunit represents a predominant mutational event. Here we used immunohistochemistry to screen a panel of 2,214 tumors from each of the major human tumor types to identify additional tumor types harboring somatic loss of STAG2. Strikingly, STAG2 expression was completely absent in 18% of urothelial carcinomas, the most common type of bladder cancer and the fifth most common cancer in the United States. DNA sequencing revealed that somatic mutations of STAG2 were present in 21% of urothelial carcinomas, which were found to be a group of highly aneuploid tumors. The acquisition of STAG2 mutations was shown to be an early event in the pathogenesis of urothelial carcinoma. STAG2 loss was significantly associated with lymph node invasion, increased disease recurrence, and reduced cancer-specific survival. These results identify STAG2 as one of the most commonly mutated genes in bladder cancer discovered to date, and demonstrate that STAG2 inactivation defines an aggressive subtype of bladder cancer with particularly poor prognosis. Affymetrix CytoScan HD Arrays were performed according to the manufacturer's directions on genomic DNA extracted directly from snap-frozen human urothelial carcinoma primary tumors. Copy number analysis using Affymetrix CytoScan HD Arrays was performed for 12 human urothelial carcinomas of the bladder with truncating mutations of the STAG2 gene.

2013-06-30 | E-GEOD-41581 | biostudies-arrayexpress

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2013-10-24 | E-GEOD-51641 | biostudies-arrayexpress

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy

Project description:This SuperSeries is composed of the SubSeries listed below.

2013-10-24 | GSE51641 | GEO

Mutational inactivation of STAG2 causes aneuploidy in human cancer.

Project description: Not available

| S-EPMC3374335 | biostudies-literature

Frequent truncating mutations of STAG2 in bladder cancer

Project description:Here we report the discovery of truncating mutations of the gene encoding the cohesin subunit STAG2, which regulates sister chromatid cohesion and segregation, in 36% of papillary non-invasive urothelial carcinomas and 16% of invasive urothelial carcinomas of the bladder. Our studies suggest that STAG2 has a role in controlling chromosome number but not the proliferation of bladder cancer cells. These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer. Affymetrix CytoScan HD Arrays were performed according to the manufacturer's directions on genomic DNA extracted directly from 12 snap-frozen human urothelial carcinoma primary tumors with somatic mutations of the STAG2 gene.

2013-06-30 | GSE41581 | GEO

The effect of STAG2 loss in Ewing sarcoma [HiChIP]

Project description:Ewing sarcoma is an aggressive malignancy characterized by oncogenic rearrangements of the EWS gene with an ETS-family transcription factor, most commonly FLI. Recent comprehensive next-generation sequencing efforts have revealed few other highly recurrent mutations in this disease apart from loss-of-function mutations in STAG2 which occur in 15-20% of tumors. STAG2 is a member of the cohesin complex, which regulates sister chromatid alignment during mitosis and epigenetic regulation of gene expression. While some studies suggest that loss of STAG2 is associated with the development of aneuploidy, this is not the case in Ewing sarcoma. To investigate whether STAG2 loss affects epigenetic regulation of gene expression in Ewing sarcoma, we developed isogenic Ewing sarcoma cell lines with STAG2 knockout. We found that Ewing sarcoma cells engineered for loss of STAG2 maintain an intact cohesion complex that alternately incorporates STAG1.

2021-05-14 | GSE165977 | GEO

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