Project Lead: Gregor Goetz
Authors: Alba Colicchia, Gregor Goetz
Publication: March 2026
Language: English (with German summary)
High-throughput sequencing technologies enable the simultaneous analysis of multiple genes or the entire genome in a single run and are increasingly used for the detection of clinically relevant genetic alterations. This assessment evaluated the clinical effectiveness, safety, and economic, organisational, and ethical aspects of high-throughput sequencing for the detection of PIK3CA, AKT1, PTEN, and ESR1 genetic alterations in breast cancer diagnostics. The target population comprises adults diagnosed with HR+/HER2–, locally advanced or metastatic breast cancer.