- BGI Tech Launches Human Whole Exome Sequencing Service on Complete Genomics’Advanced Platform
- BGI announces first flagship project with the Edinburgh Genome Foundry to synthesize the largest synthetic eukaryotic chromosome in the UK
- BGI announces world-leading research centre with the University of Birmingham
- CFDA Approved Next Generation Sequencing Diagnostic Products
- BGI Reports a Novel Gene for Salt Tolerance Found in Wild Soybean
- Researchers Develop a New Genome Editing Method, Bringing the Possibility of Patient-specific Gene Therapies Closer to Reality
- BGI Presents a High-quality Gene Catalog of Human Gut Microbiome, A Key to Understanding Human Health and Diseases
- BGI Reports the Evolutionary Adaptations of Tibetans May Benefited from Extinct Denisovans
- BGI Health Forms Partnership with University of Mayor in South America
- BGI Health and Sir Ganga Ram Hospital Collaborated to Introduce NIFTY Test to India
- BGI Health Joins Hand with Star Metropolis Clinical Laboratories to Provide Genetic Testing Service
- BGI-Hong Kong 3730 Production Center Begins Operating, Providing Fast and High-quality Sequencing Services
- China's genomics success shows big data challenges
- Joe Biden is wrong. China does innovate
- Mainland scientific research company BGI expands its Hong Kong operations
- BGI Plans to Sequence the World
Tel: +86-755-25031760Email: email@example.com
-The latest study was published online in Nature Genetics
October 16, 2013, Shenzhen, China---A Chinese research team composed of Shenzhen Second People’s Hospital, BGI and other institutes reports their latest study on bladder cancer genomics that was published online in Nature Genetics. The discoveries were made using whole-genome and exome sequencing technologies and provide evidence that genetic alterations affecting the sister chromatid cohesion and segregation (SCCS) process may be involved in bladder tumorigenesis and open a new way for the treatment of bladder cancer.
Transitional cell carcinoma (TCC) is the most common type of bladder cancer diagnosed, accounting for 90% of all bladder malignancies in North America, South America, Europe, and Asia. It’s reported that there were an estimated 386,300 new bladder cancer cases and 150,200 deaths in 2008 alone. And the number was up to 170,000 deaths in 2010. Until now, there has been no complete genomic data available for developing new therapeutic approaches to combat bladder cancer.
To have a deeper understanding of the genetic basis underlying TCC, Chinese scientists conducted exome sequencing on the tumor and matched peripheral blood samples from 99 TCC patients, and identified 1,023 somatic substitutions and 67 indels respectively. They performed whole genome sequencing (WGS) to detect copy number alterations (CNAs) and obtained 4-fold mean haploid coverage for each sample.
After evaluating the genetic alterations or variants, researchers found frequent alterations in two genes, STAG2 and ESPL1, which are associated with the sister chromatid cohesion and segregation (SCCS) process. Among them, STAG2 was particularly notable as to harbor a greater number of nonsynonymous mutations and a higher ratio of nonsynonymous to synonymous mutations. Their study indicated that chromosomal instability and aneuploidy had an influence on bladder cancer, and provided evidence that bladder cancer became the first type of cancer with major genetic lesions in SCCS genes.
Furthermore, researchers detected a recurrent fusion involving two other SCCS-associated genes, FGFR3 and TACC3, by transcriptome sequencing of 42 DNA-sequenced tumors. They suggested that FGFR3/TACC3 is related with bladder tumorigenesis, and the high expression of TACC3 was mediated by transcriptional regulatory elements in the promoter of the fusion partner, FGFR3, not the amplification of TACC3.
Chao Chen, Senior researcher from BGI, said, “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. In addition, the genomic data yielded in this study also lay a solid foundation for our further research on bladder cancer.”
Public Communications Officer, BGI