Figure 4: Molecular interactions between rare germline variants and somatic mutations within and across cancer types.
From: Patterns and functional implications of rare germline variants across 12 cancer types
(a) Heatmap demonstrates the significance of interactions between 34 burden test significant genes and 54 cancer-associated genes (top 30 are shown) with recurrently mutated somatic variants across cancer types. Red–white colour scale and blue–white colour scale depict the negative log of P-value for mutual exclusivity and co-occurrence, respectively. Both are based on the MuSiC permutation test (n=10,000). (b) Abacus plot displays the distribution of significant, mutually exclusive rare germline variants and somatic mutations across all 12 cancer types. Unique combinations of germline and somatic variants contribute to the development of individual cancer types. Bigger dots indicate recurrent genes across cancer types, while smaller dots indicate cancer-type-enriched genes.
