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. 2022 Apr 21;20:133. doi: 10.1186/s12916-022-02327-y

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© The Author(s) 2022

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — Clinicopathological and genomic characteristics of the surgery cohort. A Illustration of clinicopathological and genomic characteristics of the surgery cohort. Tumor mutational burden is shown in the upper panel. Basic clinicopathological characteristics are illustrated in the middle panel. Mutations with high frequencies are depicted in the lower panel. B Enriched genes mutated in concordant dMMR/MSI-H samples (highlighted in pink) or pMMR/MSS samples (highlighted in blue). C TMB, CNV, and fusion in concordant dMMR/MSI-H samples, discordant samples, and concordant pMMR/MSS samples. D Heatmap of the number of mutations in pre-specified pathways in concordant samples. Abbreviations: dMMR, mismatch repair-deficient; EBV, Epstein-Barr virus; FISH, fluorescence in situ hybridization; HER2, human epidermal growth factor receptor 2; IHC, immunohistochemistry; MLH1, MutL homolog 1; MMR, mismatch repair; MSH2, MutS Homolog 2; MSH6, MutS Homolog 6; MSI-H, microsatellite instability-high; MSI-L, microsatellite instability-low; MSS, microsatellite stability; N.A., not applicable; NGS, next-generation sequencing; PCR, polymerase chain reaction; PMS2, PMS1 Homolog 2; TMB, tumor mutational burden; CNV, copy number variation