The Institute of Intelligent Medical Research (IIMR) of BGI Genomics, in collaboration with Sweden's Uppsala University, has published the largest multi-omics study of colorectal cancer (CRC) to date.
BGI Genomic sAug 13 2024 The Institute of Intelligent Medical Research of BGI Genomic s, in collaboration with Sweden's Uppsala University, has published the largest multi-omics study of colorectal cancer to date. The study aimed to understand the functional and prognostic impact of cancer-causing somatic mutations, revealing new genetic alterations and developing a new molecular classifier of tumor variants. This research was published in the journal Nature on August 7th, 2024.
Several specific mutation patterns that are unique to CRC were identified. Mutations in specific pathways , a mitochondrial gene , three regulatory elements, 21 copy-number variations , and a specific mutation signature were linked to patient survival rates. A comprehensive understanding of disease progression Through timing analysis, the study uncovered that specific genetic alterations, such as those in APC, TP53, KRAS, BRAF, ZFP36L2, TCF7L2, FBXW7, BCL9L, and SOX9, tend to occur early in the cancer's progression. Meanwhile, other mutations, particularly in TRPS1, GNAS, and CEP170, are more likely to appear during the later stages of cancer development.
A collaborative effort The collaboration between BGI Genomics and Uppsala University dates back to 2018. Dr. Lin Cong, Specialized Scientist from IIMR and co-corresponding author of the study, highlighted the significance of this partnership, stating, "Since 2018, Uppsala University and BGI have carried out in-depth cooperation on the U-CAN cohort."
Colorectal Colorectal Cancer Genes Gene Genetic Genomic Genomics Medical Research Medicine Mutation Research Technology Tumor
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