Supplementary Figures from Sensitive Detection of Mono- and Polyclonal ESR1 Mutations in Primary Tumors, Metastatic Lesions, and Cell-Free DNA of Breast Cancer Patients

Abstract

<p>Supplementary Figure S1A. Pre-amplification preserves mutant allele frequency and maintains sensitivity of ESR1-D538G mutation detection by ddPCR. Supplementary Figure S1B. Pre-amplification preserves mutant allele frequency and maintains sensitivity of PIK3CA-E545K mutation detection by ddPCR. Supplementary Figure S2. ESR1 Y537C/N/S and D538G mutation probes are specific to their corresponding mutations. Supplementary Figure S3. Specificity of Probes Supplementary Figure S4. LLoD determination of ddPCR on A) Frozen tissues, B) cfDNA, and C) FFPE tissues. Supplementary Figure S5. Mutant allele frequency of PIK3CA H1047R mutation in 12 bone metastases. Supplementary Figure S6. The D538G ER mutation in 3 brain mets was confirmed by Sanger sequencing. Supplementary Figure S7. ESR1 Y537S and D538G observed in the same specimens are not mutated on the same alleles. Supplementary Figure S8. Clinical timelines and allele frequency of ESR1 mutations in multiple blood draws and matched metastatic lesions from two patients.</p>