Fig. 4

Mutational profile and clonal analysis from multi-region DNA sequencing of DCIS patients. a Fraction of genome involved in copy number losses (blue) or gains (red) for each sequenced region. b Chromosome arm copy number status in each sequenced region: lost (blue) or gained (red). c Cancer gene copy number (log₂ ratio—blue red gradient). Genes from the cancer panel with copy number gain (log₂(ratio) > 0.4) or loss (log₂(ratio) < -0.6) in at least one region, indicated with an asterisk, are displayed. d, e Bayesian probabilistic variant classification of selected high confidence somatic variants (represented by their cognate gene—rows) across all dissected regions of same patient (columns). Variants are shown for patient 1 (d) and patient 3 (e). The color gradient indicates the posterior probability of mutation presence in each region. Genes from the Cancer Gene Census are indicated in red font. f Maximum likelihood tree generated using somatic mutations identified in patient 3’s regions