Figure 1:
Diverse AR gene rearrangements are frequent in CRPC and detectable by whole genome DNA-seq. A, Schematic of the AR gene and classes of somatic alterations that occur in prostate cancer genomes. SNV, single nucleotide variant; CN, copy number; enh, enhancer. B, Frequency of AR gene alterations detected by whole genome DNA-seq of 130 primary prostate cancers or 101 metastatic CRPC specimens. Bars represent tumors with 1, 2, or more than 2 (3+) concurrent alterations in AR. Oncoprints on the right illustrate the type of AR alterations observed in each tumor sample. Each column represents an individual tumor. C, Map of AR gene rearrangements and breakpoint locations (triangles) within the AR gene body. Genome coordinates are genome build hg38. Locations of AR exons 1–8 are shown as black boxes. D, Coverage plots of DNA-seq reads in 3 tumors where an AR gene rearrangement was the only AR alteration detected by whole genome DNA-seq.