PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Genetic alterations show promise in diagnosis and treatment of bladder cancer

The latest study was published online in Nature Genetics

2013-10-16
(Press-News.org) 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."

### About BGI BGI was founded in 1999 with the mission of being a premier scientific partner to the global research community. The goal of BGI is to make leading-edge genomic science highly accessible through its investment in infrastructure that leverages the best available technology, economies of scale, and expert bioinformatics resources. BGI, which includes both private non-profit genomic research institutes and sequencing application commercial units, and its affiliates, BGI Americas, headquartered in Cambridge, MA, and BGI Europe, headquartered in Copenhagen, Denmark, have established partnerships and collaborations with leading academic and government research institutions as well as global biotechnology and pharmaceutical companies, supporting a variety of disease, agricultural, environmental, and related applications. BGI has established a proven track record of excellence, delivering results with high efficiency and accuracy for innovative, high-profile research which has generated over 250 publications in top-tier journals such as Nature and Science. These accomplishments include sequencing one percent of the human genome for the International Human Genome Project, contributing 10 percent to the International Human HapMap Project, carrying out research to combat SARS and German deadly E. coli, playing a key role in the Sino-British Chicken Genome Project, and completing the sequence of the rice genome, the silkworm genome, the first Asian diploid genome, the potato genome, and, most recently, have sequenced the human Gut metagenome, and a significant proportion of the genomes for the 1,000 genomes project. For more information about BGI please visit http://www.genomics.cn

Further information

Bicheng Yang
Public Communications Officer, BGI
Tel: +86-755-82639701
Email: yangbicheng@genomics.cn


ELSE PRESS RELEASES FROM THIS DATE:

Misinterpretation of study

2013-10-16
The actual aim of the study was to find out whether cats are more stressed when they live in large groups together or, whether the strict hierarchy of larger groups reduces stress. Neither could be confirmed in the present study, which was published in the journal Physiology & Behavior. The number of cats per household had no influence on the stress of the animals. Rather, stress in domestic cats depends more on the socialization of the animals, on the relationship with humans, on the space available to them or on the access to food. Every cat feels and reacts differently The ...

Quantum particles find safety in numbers

2013-10-16
Ludwig-Maximilians-Universitaet (LMU) in Munich researchers have uncovered a novel effect that, in principle, offers a means of stabilizing quantum systems against decoherence. The discovery could represent a major step forward for quantum information processing. The laws of classical physics provide an adequate description of how our Universe behaves on the macroscopic scales that are accessible to our everyday experience. In the world of classical mechanics, the state of a physical system and its future evolution is fully determined by the instantaneous locations and ...

How do ADHD medications work?

2013-10-16
Philadelphia, PA, October 16, 2013 – There is a swirling controversy regarding the suspicion that medications prescribed for the treatment of ADHD (attention-deficit/hyperactivity disorder) primarily act to control disruptive behavior as opposed to having primary effects on the ability to attend to the environment. Thus, there is a continued need to better understand the neural basis of ADHD medication effects. A new study in Biological Psychiatry now provides evidence that methylphenidate and atomoxetine, two FDA-approved medications for the treatment of ADHD, both ...

Glowing neurons reveal networked link between brain, whiskers

2013-10-16
DURHAM, N.C. -- Human fingertips have several types of sensory neurons that are responsible for relaying touch signals to the central nervous system. Scientists have long believed these neurons followed a linear path to the brain with a "labeled-lines" structure. But new research on mouse whiskers from Duke University reveals a surprise -- at the fine scale, the sensory system's wiring diagram doesn't have a set pattern. And it's probably the case that no two people's touch sensory systems are wired exactly the same at the detailed level, according to Fan Wang, Ph.D., ...

Defining the graphene family tree

2013-10-16
Oxford, October 16, 2013 - There has been an intense research interest in all two-dimensional (2D) forms of carbon since Geim and Novoselov's discovery of graphene in 2004. But as the number of such publications rise, so does the level of inconsistency in naming the material of interest. The isolated, single-atom-thick sheet universally referred to as "graphene" may have a clear definition, but when referring to related 2D sheet-like or flake-like carbon forms, many authors have simply defined their own terms to describe their product. This has led to confusion within ...

Cuckoos impersonate hawks by matching their 'outfits'

2013-10-16
New research shows that cuckoos have striped or "barred" feathers that resemble local birds of prey, such as sparrowhawks, that may be used to frighten birds into briefly fleeing their nest in order to lay their parasitic eggs. By using the latest digital image analysis techniques, and accounting for "bird vision" - by converting images to the spectral sensitivity of birds - researchers have been able to show for the first time that the barred patterns on a cuckoo's breast may allow it to impersonate dangerous birds of prey. This might enable cuckoos to frighten other ...

Ancient Syrians favored buying local to outsourcing production

2013-10-16
An archaeologist at the University of Sheffield has found evidence that, contrary to a widely held theory, ancient Syrians made their stone tools locally instead of importing finished tools from Turkey. The discovery, newly published online in Journal of Archaeological Science, has implications for our understanding of how early cities developed in these regions and how the geographic origins of raw materials affect developing states. During the Early Bronze Age, around 5300 to 3100 years ago, blades made of chert and obsidian remained important despite the advent ...

Software uses cyborg swarm to map unknown environs

2013-10-16
Researchers from North Carolina State University have developed software that allows them to map unknown environments – such as collapsed buildings – based on the movement of a swarm of insect cyborgs, or "biobots." "We focused on how to map areas where you have little or no precise information on where each biobot is, such as a collapsed building where you can't use GPS technology," says Dr. Edgar Lobaton, an assistant professor of electrical and computer engineering at NC State and senior author of a paper on the research. "One characteristic of biobots is that their ...

Toward a urine test for detecting blood clots

2013-10-16
Detecting dangerous blood clots, which can cause life-threatening conditions such as strokes and heart attacks, leading causes of death for men and women in the U.S., has been a coveted and elusive goal. But scientists are now reporting progress in the form of a simple urine test. Their study, in which they demonstrated that the test works using laboratory mice, appears in the journal ACS Nano. Sangeeta N. Bhatia and colleagues, including lead author and Ph.D. candidate Kevin Lin and postdoctoral fellow Gabriel Kwong, point out that blood clots — clumps of platelets ...

Light triggers death switch in cancer cells

2013-10-16
Researchers at Cardiff University have created a peptide (a small piece of protein), linked to a light-responsive dye, capable of switching 'on' death pathways in cancer cells. The peptide remains inactive until exposed to external light pulses which convert it into a cell death signal. Complex mechanisms in healthy cells normally protect us from developing cancer. However, when the finely balanced networks of interactions between proteins that control such mechanisms are disturbed, uncontrolled cell growth can occur. The Cardiff team has developed a peptide-switch ...

LAST 30 PRESS RELEASES:

Do animals get jealous like people? Researchers say it’s complicated.

Social risks impede cancer screening, even with access to care

Examining gender inequality in academic publishing

UH researchers characterize keys to successful pregnancy in humpback whales

Policy Forum: Considering risks of “mirror life” before it is created

Breakthrough of the Year: A drug that prevents HIV infection, providing six months of protection per shot

Heatwave led to catastrophic and persistent loss of Alaska’s dominant seabird

Genomic analysis refines timing of Neandertal admixture – and its impact on modern humans

Superflares once per century

A new timeline for Neanderthal interbreeding with modern humans

New timeline for Neandertal gene flow event

Your immune cells are what they eat

Oldest modern human genomes sequenced

Diverse virus populations coexist on single strains of gut bacteria

Surveys show full scale of massive die-off of common murres following the ‘warm blob’ in the Pacific Ocean

Floods, insufficient water, sinking river deltas: hydrologists map changing river landscapes across the globe

Model enables study of age-specific responses to COVID mRNA vaccines in a dish

New grant to UMD School of Public Health will uncover “ghost networks” in Medicare plans

Researchers describe a potential target to address a severe heart disease in diabetic patients

U-M study of COVID-19 deaths challenges claims, understanding of pandemic-era suicides

How the dirt under our feet could affect human health

Screen time is a poor predictor of suicide risk, Rutgers researchers find

Dual-unloading mode revolutionizes rice harvesting and transportation

Researchers uncover strong light-matter interactions in quantum spin liquids

More dense, populated neighborhoods inspire people to walk more

Innovative biomimetic superhydrophobic coating combines repair and buffering properties for superior anti-erosion

New analytical approach revolutionizes reliability evaluation of power systems with renewable energy

Artificial intelligence improves mammography-based risk prediction

Brain tumors hijack circadian clock to grow

Pfizer-BioNTech vaccine for COVID-19 among children ages 5-17

[Press-News.org] Genetic alterations show promise in diagnosis and treatment of bladder cancer
The latest study was published online in Nature Genetics