Fig. 1. Somatic mutations identified in matched noninvasive and invasive cancer samples.

a In each patient sample, multiple mutations were shared between the noninvasive and invasive cancer samples (gray). In addition, some mutations were limited to the noninvasive (blue/green), while others were limited to the cancer (red/pink). Darker colors indicate alterations that were likely restricted to one component but where sequencing coverage in the second component was limited. The proportions of shared and distinct mutations varied between different lesions. b Somatic mutations in the most frequently mutated genes are categorized as shared between noninvasive and cancer (gray), limited to noninvasive (blue), or limited to cancer (red). Mutations in some genes (such as KRAS) were always shared, while others were enriched in samples from noninvasive (RNF43) or cancer (SMAD4).