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Comprehensive genome- and transcriptome-wide analyses of mutations associated with microsatellite instability in Korean gastric cancers

    • 1CHA Cancer Institute, CHA University, Seoul 135-081, Korea;
    • 2Personal Genomics Institute, Genome Research Foundation, Suwon 443-270, Korea;
    • 3TheragenEtex Bio Institute Inc., Suwon 443-270, Korea;
    • 4Cancer Research Institute, Seoul National University, Seoul 110-799, Korea;
    • 5Department of Biomedical Science, College of Life Science, CHA University, Gangnam-gu, Seoul 135-081, Korea;
    • 6Department of Surgery, Seoul National University College of Medicine, Seoul 110-799, Korea;
    • 7Department of Pathology, Seoul National University College of Medicine, Seoul 110-799, Korea
    • 8 These authors equally contributed to this work.
    • 9 Corresponding author E-mail [email protected]
Published June 4, 2013. https://doi.org/10.1101/gr.145706.112
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Abstract

Microsatellite instability (MSI) is a critical mechanism that drives genetic aberrations in cancer. To identify the entire MS mutation, we performed the first comprehensive genome- and transcriptome-wide analyses of mutations associated with MSI in Korean gastric cancer cell lines and primary tissues. We identified 18,377 MS mutations of five or more repeat nucleotides in coding sequences and untranslated regions of genes, and discovered 139 individual genes whose expression was down-regulated in association with UTR MS mutation. In addition, we found that 90.5% of MS mutations with deletions in gene regions occurred in UTRs. This analysis emphasizes the genetic diversity of MSI-H gastric tumors and provides clues to the mechanistic basis of instability in microsatellite unstable gastric cancers.

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