Liquid Biopsy: CancerDetect® Now Detects Fusions in cfDNA

June 17, 2024

As part of our regular updates, we have added a significant upgrade to our CancerDetect® panel: the liquid biopsy-based analysis now detects selected, therapy-relevant gene fusions and thus provides important information for oncological treatment planning.

Gene fusions are often drivers of cancer. For this reason, drugs that specifically target the signaling pathways overactivated by gene fusions are increasingly being used in treatment. CancerDetect® now identifies fusions at enriched breakpoints in the ALK, RET, ROS1, FGFR2, FGFR3, and NTRK1 genes and supports the treating physicians in therapy decisions.

ALK, ROS1, and RET fusions expand lung cancer examination

The addition of ALK, ROS1, and RET fusions significantly expands lung cancer examination with CancerDetect®. If these fusions are present, various therapy options, such as repotrectinib or pralsetinib, are available. The possible detection of FGFR2/3 fusions now also supports further characterizing lung carcinomas. These are relevant for other tumor entities, such as cholangiocarcinoma, as pemigatinib and futibatinib can be administered.

Tumour diagnostic approach with NTRK1 fusions

The newly included NTRK1 fusions enable a tumor diagnostic approach with CancerDetect®. Fusions involving the NTRK1 gene act as strong oncogenic drivers and occur in various tumor entities. Tumour diagnostic approaches target specific genetic alterations regardless of the cancer entity or location. Approvals for therapeutic approaches currently exist in both the EU (EMA) and the USA (FDA) for NTRK inhibitors with drugs such as entrectinib.

Important extensions: AR and CDKN2A

In addition to the new fusions, we have expanded the CancerDetect® panel to include further therapy-relevant targets. These are worth emphasizing:

  • Androgen receptor (AR): Acquired resistance mutations in this transcription factor play a role in advanced castration-resistant prostate cancer (mCRPC) under anti-androgen therapy. It is crucial to identify these mutations at an early stage to enable adequate therapy planning.
  • CDKN2A: This tumor suppressor gene codes for two proteins that regulate cell cycle pathways. Mutations that inactivate CDKN2A are associated with various cancers, such as pancreatic and breast cancer. Therefore, CDKN2A is a vital biomarker that can be therapeutically addressed.

Why CancerDetect®?

CancerDetect® uses liquid biopsy analysis to recognize actionable variants and fusions in cell-free DNA (cfDNA) from blood and other liquid biopsies. Thanks to uncomplicated, noninvasive, and repeatable sampling, it is an excellent tool for monitoring the response to therapy. The highly sensitive detection of tumor-specific biomarkers shows tumor dynamics in real-time and enables treatment adjustment, e.g., if a resistance mutation occurs.

However, CancerDetect® is also a very important test procedure in cases where no tumor tissue is available, e.g., inoperable tumors, or if surgery is currently not reasonable due to the patient’s poor condition. We communicate all relevant examination results in a medical report. This report contains a list of all identified clinically relevant variants and the associated therapeutic approaches.

For more information and detailed insights into the new possibilities of CancerDetect®, please visit our website or contact our dedicated team. Call us at +49 (0) 7071 565 44 55 or send us an email to