Fig. 2: Evolution of BRCA2 alterations over time.

Integrative Genomics Viewer (IGV) visualization of BRCA2 sequencing data. a, b Genomic analysis of whole blood and tumor tissue from a bone metastasis reveals a 2 base pair (bp) deletion in both, indicating a germline alteration. c Genomic analysis of a metastatic liver lesion reveals both the original 2 bp deletion, as well as an additional 7 bp deletion, resulting in an in-frame somatic reversion. d, e Genomic analysis of circulating tumor DNA (ctDNA) from blood plasma shows the previously identified germline alteration and somatic reversion alteration, as well as a secondary somatic reversion mutation. Horizontal pink and blue bars are individual reads denoting forward and reverse strand sequence orientation, respectively. Gray histogram indicates relative sequencing coverage at the individual nucleotide position. A decrease in coverage is expected at the ___location of the deletions. Nucleotide deletions are represented as short horizontal black bars with the size of the deletion specified below the sequencing reads. Reference nucleotide sequence is indicated. Reference protein sequence at the bottom is in blue with single letter abbreviations for the amino acids and the intron depicted with a thin blue line and arrows showing directionality. The three possible open reading frames are in gray, with the third being the wild-type reading frame.