Figure 1.

Mutations detected by whole-exome sequencing (WES) of circulating tumor cells (CTCs) and the therapies targeting them: (A) Only clinically relevant mutations detected in the CTCs are shown. The second exon of the AKT1 gene was not covered in the WES of all WGA samples. Because this exon contains amino acid E17, frequently mutated in metastatic breast cancer, it was sequenced also with targeted Sanger sequencing (Supplementary Figure S2). For each detected mutation, treatments and their efficacies and safety concerns are listed (effective: potentially effective treatment option; ineffective: potentially ineffective treatment; safety: potential safety concern). (B) Concordance of mutations between primary tumor (PT) and CTCs. Only clinically targetable mutations are listed. Variants that were detected only in CTCs but not in the PT are shown in green. Variants that were detected in a minor subclone of the PT compared to the CTCs are indicated in green hatched. nd (not detected).