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Fig. 1 | Journal for ImmunoTherapy of Cancer

Fig. 1

From: Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates

Fig. 1

BLS-altered primary human tumors demonstrate high TMB in the context of POLE-mutator phenotypes. a) Left panels demonstrate association of BLS-altered tumors for each TCGA dataset (colorectal, melanoma, gastric/stomach, and uterine). BLS-alterations considered were nonsynonymous variants and deep deletions. The types of mutations are shown in the oncoprint on the right panels for each tumor type: light blue (homologous deletion), green (missense mutation), black (multi hit), blue (frame shift deletion), purple (frame shift insertion), brown (in frame deletion), and red (nonsense mutation). b) Association of TMB with the presence of a BLS class I/II alteration, a POLE mutation, or the combination of both. All comparisons were highly significant by negative binomial model test

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