Bladder Cancer Genome Study May Lead To New Treatments

Researchers in China have published a genomic study of transition cell carcinoma, the most common type of bladder cancer.

Asian Scientist (Oct. 22, 2013) – A research collaboration in China has published the latest genomic study of the most common type of bladder cancer. The findings may one day lead to new treatments for bladder cancer.

In their study, published in Nature Genetics, the researchers carried out genomic analysis on tumor and normal tissue samples taken from 99 patients with transitional cell carcinoma (TTC).

TCC is the most common type of bladder cancer diagnosed, accounting for 90 percent of all bladder malignancies in North America, South America, Europe and Asia. There were an estimated 386,300 new bladder cancer cases and 150,200 deaths in 2008 alone.

Because there was no complete genomic data available for developing new therapeutic approaches to combat TCC, the scientists performed exome and whole-genome sequencing on each of the samples to identify genetic alterations associated with TCC.

Through the analysis, they identified over 1,000 genetic mutations present in the tumor samples. By further examining these mutations, the researchers discovered that two frequently mutated genes in TCC are associated with the sister chromatid cohesion and segregation (SCCS) process.

Genetic disruption of the SCCS process leads to chromosomal instability and aneuploidy (having an abnormal number of chromosomes in a cell), which are characteristics of cancer cells.

Therefore, the discovery that the SCCS genes, STAG2 and ESPL1, are frequently mutated in TCC provides evidence that chromosomal instability and aneuploidy may have a role in promoting bladder cancer. This is the first time that the SCCS process has been implicated in cancer.

Further evidence that SCCS is important in bladder tumorigenesis came when the researchers detected a recurrent fusion involving two other SCCS-associated genes, FGFR3 and TACC3, after they sequenced the transcriptomes of 42 bladder tumors.

“This is a great progress for genetic research of bladder cancer. We discovered frequent alterations in STAG2/ESPL1 and recurrent fusion FGFR3-TACC3, which provide evidence that genetic alterations affecting the SCCS process may be involved in bladder tumorigenesis and implicate a novel therapeutic approach for bladder cancer,” said co-author Chao Chen, a senior researcher from BGI-Shenzhen.

“In addition, the genomic data yielded in this study also lay a solid foundation for our further research on bladder cancer.”

The article can be found at: Guo et al. (2013) Whole-Genome And Whole-Exome Sequencing Of Bladder Cancer Identifies Frequent Alterations In Genes Involved In Sister Chromatid Cohesion And Segregation.


Source: BGI; Photo: snre/Flickr/CC.
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