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Shenzhen, China, Toronto, ON, June 2, 2016 – BGI, global leader in genomics research and clinical applications, is actively using functional studies data provided by biotech startup, Ranomics, for gene variant classification. Ranomics’ database oﬀers experimental data about genetic Variants of Unknown Significance (VUS), providing new insights into the function of VUS in model organisms. Following the American College of Medical Genetics and Genomics (ACMG) guidelines for the interpretation of sequence variants, and in combination with its multiple gene sequencing platforms, BGI plans to leverage Ranomics’ database to classify variants of susceptibility genes in Chinese high-risk breast cancer patients.
"For mutation carriers in Chinese population, the mutation spectrum and risk of incidence may be diﬀerent from the western population. So it is necessary to analyze the mutation spectrum of Chinese patients with hereditary breast cancer, in order to develop preventive methods,” indicates Yong Hou, Deputy Director of BGI Research, “The role of pathogenic variants in breast cancer is clear, but the VUS’s function in breast cancer risk is still undefined. In order to have an eﬀective prevention and therapy for hereditary breast cancer, it is necessary to classify VUS as pathogenic or benign.”
BGI is committed to interpreting all variants in their studied population and to reclassifying any mutation that has suﬃcient new evidence. Through partnering with Ranomics, BGI plans to expand the scope of its research to cover VUS of BRCA1, TP53 and CHEK2 genes which are commonly identified in Chinese patients of high-risk breast cancer.
Toronto-based Ranomics is committed to resolving VUS in genetic testing results. Earlier this year, the company launched Ranomics RING-Domain, a database of internally conducted high-throughput functional studies of 2,000 potential mutations in BRCA1, one of the most commonly mutated genes in breast and ovarian cancers.