Fig. 4: Liquid biopsies identify acquired alterations associated with therapeutic resistance.

a Acquired short variants (e.g., point mutations, short indels) in patients with longitudinal tissue biopsy (TBx)/liquid biopsy (LBx), where LBx was collected at the time of or following TBx (n = 712). The fraction of samples with acquired short variants based on b collection time difference and c receptor subtype. d Acquired copy number amplifications detected in follow-up LBx samples (number of detected events for each gene is provided within parenthesis). e Acquired rearrangements detected in follow-up LBx samples (number of detected events for each gene is provided within parenthesis). f Reversion mechanisms impacting BRCA1 and BRCA2. Each patient is represented by a unique color, with shared BRCA1/2 alterations shown in red and identified reversions shown in black. Variant allele frequency for each identified BRCA1/2 short variant is provided. g Distribution of the estimated clonal fraction for shared and acquired short variants in LBx. Each box plot displays the interquartile range (IQR), with the lower and upper boundaries representing the 25th and 75th percentile; the line within the box represents the median and the whiskers extend to ±1.5 × IQR. h Polyclonality of acquired short variants identified in LBx. The fraction of a single (#1) or multiple (#2, #3+) detected alterations within each gene is shown.