Research discovered frequent mutations of Chromatin Remodeling genes In bladder TCC

BGI, the world's largest Genomics organization, Beijing University Shenzhen hospital and Shenzhen second people's Hospital, announced that the study on frequent mutations of Chromatin Remodeling genes in the transitional period cell carcinoma (TCC) of the bladder was published online in nature genetics. This study provides a valuable genetic basis for future studies on TCC, suggest that aberration of chromatin regulation one of the features of bladder cancer perhaps.

Bladder cancer is the ninth most common type of cancer worldwide, three times as many men as women. Almost all bladder cancers originate in the urothelium, so they also known as one of the most common tumors of the Genitourinary tract. Each year, approximately 360,000 new cases of bladder cancer are expected, and approximately 150,000 people will die of this disease in the world. In North America, South America, Europe and Asia is TCC the most common type of bladder cancer are diagnosed, 90% of all bladder malignancies in these regions.

"Given the high risks for TCC and the lack of comprehensive analysis, we and our partners started this project to other previously unknown genes associated with bladder cancer. to identify, "said Professor Cai Zhiming, President of Shenzhen second people hospital and the former President of Beijing University Shenzhen hospital. "I hope our unexpected discoveries can in this study important insight in possible diagnoses and therapeutic applications." he added.

In this study, were the exomes of nine patients with TCC sequenced by BGI of exome sequencing platform. Then were the somatically mutated genes in a set of extra prevalence of 88 patients with TCC screened at different tumor stages and grades. "After the detections and statistical analysis, we discovered 49 new significantly mutated genes TCC is linked, and these genes are previously unknown to be mutated in TCC.", says Professor Yaoting Gui-the co-leading author of the study and the Deputy Director of the Institute of Urology in Beijing University Shenzhen hospital, "another interesting finding is that eight genes among them associated with Chromatin Remodeling which could be related with frequent mutations in the majority of the TCCs."

"We the genetic defects of the Chromatin Remodeling genes in 59% of the 97 persons with TCC identified, and discovered one gene, UTX, considerably more can be changed in tumours with low stages and grades." said Guangwu died, Guo, one of the co-leading authors of the study and PI of this project at BGI. "This study indicates that may constitute a potential UTX role in the classification and diagnosis of bladder cancer."

As we all know, may grant exemptions from the Chromatin Remodeling genes directly result in misregulation of multiple downstream effector genes, thus promoting the tumor genesis process. "In our study, the newly discovered genetic mutations in the Chromatin Remodeling genes, with the exception of UTX, his previous unknown in the primary tumors of the TCC." said professor Cai. "Our results show that the disruption of Chromatin Remodeling machines can be one of the main mechanisms for TCC lead."

Professor Jun Wang, Director of BGI, said, "this study provides further understanding of bladder cancer and other human cancer by comprehensive analysis of genetic changes to TCC. It also involves the need to research the epigenomics in the field of cancer studies in the future. "

Article reference:
Beijing Genomics Institute