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Updated: May 7, 2026
An Orthotopic Bladder Cancer Model for Gene Delivery Studies
Published on: December 1, 2013
Frequent truncating mutations of STAG2 in bladder cancer
David A Solomon1, Jung-Sik Kim, Jolanta Bondaruk
11] Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University School of Medicine, Washington, DC, USA. [2] Department of Pathology, University of California, San Francisco, San Francisco, California, USA.
Abstract:
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.
Insights
Truncating mutations in the STAG2 gene were discovered in bladder cancer. These STAG2 gene mutations impact chromosome number, identifying it as a key player in urothelial carcinoma development.
Area of Science:
- Genetics and Genomics
- Oncology
- Molecular Biology
Background:
- Bladder cancer, specifically urothelial carcinoma, is a significant health concern.
- Understanding the genetic underpinnings of bladder cancer is crucial for developing targeted therapies.
- The cohesin complex, including the STAG2 subunit, plays a vital role in chromosome stability.
Purpose of the Study:
- To investigate the role of the STAG2 gene in bladder cancer pathogenesis.
- To identify the frequency and impact of STAG2 mutations in different types of urothelial carcinoma.
Main Methods:
- Analysis of truncating mutations in the gene encoding the cohesin subunit STAG2.
- Examination of mutation prevalence in papillary non-invasive and invasive urothelial carcinomas of the bladder.
Main Results:
- STAG2 mutations were found in 36% of papillary non-invasive urothelial carcinomas.
- STAG2 mutations were identified in 16% of invasive urothelial carcinomas.
- STAG2 mutations appear to influence chromosome number but not cell proliferation in bladder cancer.
Conclusions:
- STAG2 is one of the most frequently mutated genes in bladder cancer.
- Mutations in STAG2 suggest a role in chromosomal instability during urothelial carcinoma development.
- These findings highlight STAG2 as a potential therapeutic target in bladder cancer.
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