The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
The Landscape of Microsatellite Instability in Colorectal and Endometrial Cancer Genomes
Open accessAbstract
Summary Microsatellites - simple tandem repeats present at millions of sites in the human genome - can shorten or lengthen due to a defect in DNA mismatch repair. We present here the first comprehensive genome-wide analysis of the prevalence, mutational spectrum and functional consequences of microsatellite instability (MSI) in cancer genomes. We analyzed MSI in 277 colorectal and endometrial cancer genomes (including 57 microsatellite-unstable ones) using exome and whole-genome sequencing data. Recurrent MSI events in coding sequences showed tumor type-specificity, elevated frameshift-to-inframe ratios, and lower transcript levels than wildtype alleles. Moreover, genome-wide analysis revealed differences in the distribution of MSI versus point mutations, including overrepresentation of MSI in euchromatic and intronic regions compared to heterochromatic and intergenic regions, respectively, and depletion of MSI at nucleosome-occupied sequences. Our results provide a panoramic view of MSI in cancer genomes, highlighting their tumor type-specificity, impact on gene expression, and the role of chromatin organization.
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Microsatellite Instability in Colorectal Cancer
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Combinatorial patterns of histone acetylations and methylations in the human genome
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Cited by
Microsatellite Instability in Colorectal Cancer
Boland, C. R., & Goel, A. (2010) · Gastroenterology · doi:10.1053/j.gastro.2009.12.064 · Cited by 2,456
Comprehensive Characterization of Cancer Driver Genes and Mutations
Bailey, M. H., Tokheim, C., Porta-Pardo, E., Sengupta, S., Bertrand, D., Weerasinghe, A., Colaprico, A., Wendl, M. C., Kim, J., Reardon, B., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.060 · Cited by 2,256
Self-citationClassification and characterization of microsatellite instability across 18 cancer types
Hause, R. J., Pritchard, C. C., Shendure, J., & Salipante, S. J. (2016) · Nature Medicine · doi:10.1038/nm.4191 · Cited by 991
Somatic mutation in single human neurons tracks developmental and transcriptional history
Lodato, M. A., Woodworth, M. B., Lee, S., Evrony, G. D., Mehta, B. K., Karger, A., Lee, S., Chittenden, T. W., D’Gama, A. M., Cai, X., et al. (2015) · Science · doi:10.1126/science.aab1785 · Cited by 570
Self-citationProteogenomic Characterization of Endometrial Carcinoma
Dou, Y., Kawaler, E. A., Cui Zhou, D., Gritsenko, M. A., Huang, C., Blumenberg, L., Karpova, A., Petyuk, V. A., Savage, S. R., Satpathy, S., et al. (2020) · Cell · doi:10.1016/j.cell.2020.01.026 · Cited by 485
“Because most of the JAK1 truncation mutations in MSI tumors are derived from microsatellite indels, which are much more common in EC than in the MSI subtype of colon cancer (Kim et al., 2013) (Figure S2B), JAK1microsatellite indels could represent a major immune evasion mechanism in MSI EC, a theory which has also bee…”
Background
Metadata
- Authors
- Kim, T.-M., Laird, P. W., & Park, P. J.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2013-11
- Volume
- 155
- Issue
- 4
- Pages
- 858-868
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2077059059
- Cited by
- 380
- References
- 10
- FWCI
- 20.68
- Type
- journal article
- Language
- en
- Open access
- bronze
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