Researchers provided a comprehensive genomic characterization of colorectal carcinoma, a type of cancer that starts in the colon or rectum, through whole-genome sequencing of 2,023 samples, identifying novel driver genes, molecular subgroups, and potential clinical implications.
By Vijay Kumar MalesuReviewed by Danielle Ellis, B.Sc.Aug 15 2024 In a recent study published in Nature, a group of researchers provided a comprehensive genomic characterization of colorectal carcinoma , a type of cancer that starts in the colon or rectum, through whole-genome sequencing of 2,023 samples, identifying novel driver genes, molecular subgroups, and potential clinical implications.
Specialist nurses and other staff identified patients scheduled for CRC resections, and all participants provided written informed consent. Blood samples were taken, and tumor samples were evaluated in histopathology cut-ups, with associated clinicopathological data retrieved from health records. Study results CRCs were classified into three established subtypes such as DNA polymerase ε proofreading-deficient , microsatellite instability-positive , and microsatellite-stable . Among the 2,023 samples analyzed, 18 were POL, 364 were MSI, and 1,641 were MSS, with nearly all metastasis samples falling into the MSS category. While MSI and POL cancers exhibited near-diploid genomes, MSS cancers displayed highly variable ploidy.
The study also highlighted new roles for minor Rat Sarcoma and Mitogen-Activated Protein kinase pathway genes, which appear to function as modifiers of major RAS drivers rather than as substitutes.
Colorectal Colorectal Cancer Genetic Research Blood Carcinoma Colon DNA Gene Genes Genome Genomic Kinase Metastasis Protein Quality Control Tumor
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