Fig. 3: The landscape plot and tumor mutation burden (TMB) analysis of patients with LS.
From: Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum
A–C Somatic mutation heatmaps of CNS LS-related tumors (A), non-CNS LS-related tumors (B), and non-CNS LS-unrelated tumors (C). Distinct colors correspond to specific mutational functions and clinical information, as indicated. Each column represents an individual patient, with the top 50 genes and mutation frequencies listed on the y-axis. D, E Box plot showing the comparison of TMB across the three groups (D) and the TMB of different germline mutant genes in different groups (E). A total of 191 patients have detected TMB values, with n = 22 in CNS LS tumor, n = 117 in Non-CNS LS-related tumor, and n = 52 in Non-CNS LS-unrelated tumor. The box plot displays the median (center line), interquartile range (IQR) between 25th and 75th percentiles (bounds of the box), and whiskers extending to 1.5 times the IQR, and the points beyond are outliers, with “minima” and “maxima” as the absolute lowest and highest values. Colors denote the specific germline gene mutation, including MLH1 (orange), MSH2 (blue), MSH6 (green), and PMS2 (yellow). The p-values of comparisons were evaluated by a two-sided Mann–Whitney test, with multiple comparisons adjusted by the FDR approach. (ns, p > 0.05; *p < 0.05; **p < 0.01; ***p < 0.001). Source data are provided as a Source Data file.
