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. 2018 Nov 13;30(1):115–123. doi: 10.1093/annonc/mdy497

Figure 4.

Figure 4.

Metastatic invasive lobular carcinomas (ILCs) exhibit a significantly elevated tumor mutational burden. (A) Box and whisker plots capturing the spread of mutational burden (mutations per megabase) in skin cancers, lung cancers, and breast cancers broken down by histological or diagnostic subtype. All relevant tumors from the foundation medicine database were included in this analysis. (B) Pie charts showing the mutational burden for ER-positive IDCs and ILCs, broken down by local/met status. (C) Violin plots capturing the distribution of mutational burden (mutations per megabase) in primary and recurrent breast cohorts from Yates et al. in CDH1-WT and CDH1-Mutant populations. (D) The relative frequency of nucleotide substitutions was compared between ER-positive breast IDCs and breast ILCs broken down by primary met status. The left panel examines the mononucleotide change (e.g. C to G transversion mutations) while the right panel examines the trinucleotide context of the C>T and C>G alterations. (E) TMB-H samples (mutational load ≥20 muts/mb) were examined for trinucleotide mutational signatures, as described by Zehir et al. Identified signatures included MMR (mismatch repair) and AID/APOBEC.