A Genome-wide View of Microsatellite Instability: Old Stories of Cancer Mutations Revisited with New Sequencing Technologies

作者: Tae-Min Kim , Peter J. Park

DOI: 10.1158/0008-5472.CAN-14-1225

关键词:

摘要: Microsatellites are simple tandem repeats that present at millions of loci in the human genome. Microsatellite instability (MSI) refers to DNA slippage events on microsatellites occur frequently cancer genomes when there is a defect DNA-mismatch repair system. These somatic mutations can result inactivation tumor-suppressor genes or disrupt other noncoding regulatory sequences, thereby playing role carcinogenesis. Here, we will discuss ways which high-throughput sequencing data facilitate genome- exome-wide discovery and more detailed investigation MSI microsatellite-unstable genomes. We address methodologic aspects this approach highlight insights from recent analyses colorectal endometrial The Cancer Genome Atlas project. include identification novel targets within across tumor types relationship between likelihood chromatin structure. Given increasing popularity exome genome genomes, comprehensive characterization may serve as valuable marker evolution aid search for therapeutic targets.

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