Genetron Health's Scientific Research Achievements Published

Release time:2014-09-11

Genetron Health's Scientific Research Achievements Published


On August 24, 2014, the latest results from esophageal squamous cell carcinoma (ESCC) genomic research of Chinese, led by Jie He a member of Chinese Academy of Sciences (from Cancer Institute & Hospital affiliated to Chinese Academy of Medical Sciences) and contributed by Beijing Pangenomics Technology, Co., Ltd. (Genetron Health) were published online in the internationally acclaimed academic journal Nature Genetics. This is the largest study ever accomplished on ESCC exome sequencing, with the focus on mutations and clinical significance of genes related to histone modification and Hippo signal pathway. The paper is titled 'Genetic Landscape of Esophageal Squamous Cell Carcinoma.


Based on the whole-exome sequencing and analysis, the research team carried out a panoramic study on the gene mutation spectrum of 113 tumor and normal tissue sample pairs as well as 8 cell lines. As the first time with comprehensive data, the paper shows the epigenetic genes including histone modifier genes are mutated in ESCC, among the mutated genes EP300 mutations were concentrated in the acetylase region and were significantly related to poor prognosis. This relevance was later verified in a multicenter research and it was proven that the EP300 mutations stimulate ESCC cell proliferation in vitro. The study also finds that mutations in the Hippo signal pathway are also important characteristics of ESCC and the high-frequency mutations of AJUBA are reported for the first time. Mutations of NOTCH1, RB1, CCND1 and MIR548K are also significantly correlated with cancer incidence or patient prognosis, presenting potential value on diagnosis, patient stratification and therapy. These findings provide theoretical and experimental basis for future studies of ESCC pathogenesis, patient stratification and potential targeted therapies.


In less than a year after inception of operation in China, this is the second time that cooperated scientific research achievements of Genetron Health published in Nature Genetics. The first paper of brainstem gliomas research was published in June, 2014.


Nature Genetics is published in the UK, as one of the most influential journals in genetics with a SCI impact factor of approximately 35.


Genetron Health shares a vision with domestic clinical and scientific researchers to effectively leverage valuable medical resources and to create greater value for society. Genetron Health brings world-class cancer genome analysis technology to China to ensure a high-level standard is kept when analyzing genomes of different cancer types. This provides a foundation for developing state-of-the-art personalized diagnosis and therapy.


Professor Hai Yan, the Chief Science Officer of Genetron Health, believes that truly understanding genetic alterations in cancer helps reveal its root causes and key survival mechanisms from cancer. Based on this, we could break the boundary of cancer types and provide diversified therapeutic options meeting specific needs of individual patients. In the collaboration with Cancer Institute & Hospital affiliated to Chinese Academy of Medical Sciences, researchers found that the gene mutation spectrum of ESCC is similar to that of squamous-cell carcinoma rooted in other tissues, which indicates that cancers in different organs may have similar molecular roots. Hence, personalized treatment based on molecular stratification is shows a promising future of cancer care.


Sizhen Wang, the CEO of Genetron Health states, “The whole-exome analysis used in this paper is just one of many cancer genomic technologies in Genetron Health's arsenal. We will continue to optimize and innovate other world-leading technologies, in order to scale up and stream-line clinical applications to better meet the needs of Chinese market.” Genetron Health is currently involved in several research projects regarding to cancers with high incidence in China, such as lung cancer, liver cancer, gastric cancer, esophagus cancer and cerebral cancer etc.


Genetron Health will play an integral role in healthcare during the entire cancer cycle by providing top-quality service to cancer patients in China. Starting from assisting fundamental research of cancers with high incidence in China and commercializing proprietary R&D technologies, we will bridge the gap between fundamental scientific research and clinical application to eventually help cancer patients by facilitating the most comprehensive personalized cancer treatment options and providing innovative diagnostic products. Genetron Health focuses on innovation and quality of service. We will establish our own unparalleled business model and lead the advance of personalized cancer care in China.


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