The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Landscape of Microsatellite Instability Across 39 Cancer Types
Open accessAbstract
Purpose: Microsatellite instability (MSI) is a pattern of hypermutation that occurs at genomic microsatellites and is caused by defects in the mismatch repair system. Mismatch repair deficiency that leads to MSI has been well described in several types of human cancer, most frequently in colorectal, endometrial, and gastric adenocarcinomas. MSI is known to be both predictive and prognostic, especially in colorectal cancer; however, current clinical guidelines only recommend MSI testing for colorectal and endometrial cancers. Therefore, less is known about the prevalence and extent of MSI among other types of cancer. Methods: Using our recently published MSI-calling software, MANTIS, we analyzed whole-exome data from 11,139 tumor-normal pairs from The Cancer Genome Atlas and Therapeutically Applicable Research to Generate Effective Treatments projects and external data sources across 39 cancer types. Within a subset of these cancer types, we assessed mutation burden, mutational signatures, and somatic variants associated with MSI. Results: We identified MSI in 3.8% of all cancers assessed—present in 27 of tumor types—most notably adrenocortical carcinoma (ACC), cervical cancer (CESC), and mesothelioma, in which MSI has not yet been well described. In addition, MSI-high ACC and CESC tumors were observed to have a higher average mutational burden than microsatellite-stable ACC and CESC tumors. Conclusion: We provide evidence of as-yet-unappreciated MSI in several types of cancer. These findings support an expanded role for clinical MSI testing across multiple cancer types as patients with MSI-positive tumors are predicted to benefit from novel immunotherapies in clinical trials.
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Cites
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Cited by
Marabelle, A., Le, D. T., Ascierto, P. A., Di Giacomo, A. M., De Jesus-Acosta, A., Delord, J.-P., Geva, R., Gottfried, M., Penel, N., Hansen, A. R., et al. (2020) · Journal of Clinical Oncology · doi:10.1200/jco.19.02105 · Cited by 3,048
Kather, J. N., Pearson, A. T., Halama, N., Jäger, D., Krause, J., Loosen, S. H., Marx, A., Boor, P., Tacke, F., Neumann, U. P., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0462-y · Cited by 1,458
Conserved pan-cancer microenvironment subtypes predict response to immunotherapy
Bagaev, A., Kotlov, N., Nomie, K., Svekolkin, V., Gafurov, A., Isaeva, O., Osokin, N., Kozlov, I., Frenkel, F., Gancharova, O., et al. (2021) · Cancer Cell · doi:10.1016/j.ccell.2021.04.014 · Cited by 1,302
The Challenges of Tumor Mutational Burden as an Immunotherapy Biomarker
Jardim, D. L., Goodman, A., de Melo Gagliato, D., & Kurzrock, R. (2021) · Cancer Cell · doi:10.1016/j.ccell.2020.10.001 · Cited by 1,192
Lenvatinib plus Pembrolizumab for Advanced Endometrial Cancer
Makker, V., Colombo, N., Casado Herráez, A., Santin, A. D., Colomba, E., Miller, D. S., Fujiwara, K., Pignata, S., Baron-Hay, S., Ray-Coquard, I., et al. (2022) · New England Journal of Medicine · doi:10.1056/nejmoa2108330 · Cited by 930
Metadata
- Authors
- Bonneville, R., Krook, M. A., Kautto, E. A., Miya, J., Wing, M. R., Chen, H.-Z., Reeser, J. W., Yu, L., & Roychowdhury, S.
- Venue
- JCO Precision Oncology
- Published
- 2017-11
- Volume
- 2017
- Issue
- 1
- Pages
- 1-15
- ISSN
- 2473-4284 (ISSN-L)
- OpenAlex
- W2760942750
- Cited by
- 1,476
- References
- 21
- FWCI
- 39.68
- Type
- journal article
- Language
- en
- Open access
- green
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