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. Author manuscript; available in PMC: 2020 Feb 1.
Published in final edited form as: Mol Cancer Res. 2018 Oct 24;17(2):457–468. doi: 10.1158/1541-7786.MCR-18-0946

Figure 2: Frequent ESR1 amplifications in metastatic breast cancer.

Figure 2:

A. Oncoprint visualization of ESR1 copy number alterations in ER+ (top) and ER− (bottom) samples. Levels of amplification and deletion are color coded. Each column represents a single sample (sample IDs labelled as: grey; primary tumor, black; metastasis). Each row indicates copy number call of the correspondent single exon probe. Untranslated exons (E1 and E2) are annotated with ‘*’ symbol. P; Promoter probe. ESR1_ave: average copy number call of all probes. B. Distribution of ESR1 copy number amplifications by site (primary, brain, bone, GI, and ovaries as indicated by arrows) and ER status (color coded). Bone metastases showed significant enrichment for amplifications vs primary and ovaries (Fisher’s exact test, p <0.05). C. Single pair where the brain metastasis had higher level ESR1 amplifications compared to its primary tumor. D. Graphical representation (left; actual copy number) and heatmap (right; ratio) of 5’−3’ copy number imbalance among the ESR1 amplified samples. The dark red color indicates higher copy number amplification toward the 5’ side of ESR1 (Wilcoxon matched pairs signed-rank test p = 0.0024).