Figure 2.
Mutation profiling on a patient (mBEP_01-013) with breast cancer. (A) Single-cell analysis using a combined DNA and protein Tapestri panel on a peripheral blood sample after venetoclax therapy for 44 months. Eight BAX variants were detected on the Tapestri panel (1725 cells) in multiple independent heterozygous clones with myeloid-biased lineage distribution. (B) Fish plot representing the inferred clonal dynamic changes from bulk sequencing data (targeted NGS panel) from multiple time points: baseline before venetoclax; 44 and 51 months on venetoclax therapy; and 46 months after cessation of venetoclax. BAX-specific deep sequencing (duplex-UMI panel) on the baseline sample revealed 3 mutations: c.233+1G>A (VAF, 0.013%), Leu125Gln (VAF, 0.04%), and Leu185Profs∗55 (VAF, 0.009%). UMI, unique molecular identifier.

Mutation profiling on a patient (mBEP_01-013) with breast cancer. (A) Single-cell analysis using a combined DNA and protein Tapestri panel on a peripheral blood sample after venetoclax therapy for 44 months. Eight BAX variants were detected on the Tapestri panel (1725 cells) in multiple independent heterozygous clones with myeloid-biased lineage distribution. (B) Fish plot representing the inferred clonal dynamic changes from bulk sequencing data (targeted NGS panel) from multiple time points: baseline before venetoclax; 44 and 51 months on venetoclax therapy; and 46 months after cessation of venetoclax. BAX-specific deep sequencing (duplex-UMI panel) on the baseline sample revealed 3 mutations: c.233+1G>A (VAF, 0.013%), Leu125Gln (VAF, 0.04%), and Leu185Profs∗55 (VAF, 0.009%). UMI, unique molecular identifier.

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