Liquid biopsy analysis represents an optimal alternative testing procedure in cases where no tumor tissue is available, for example, with irresectable tumor or poor patient conditions. The main target of Liquid biopsy analysis is cell-free DNA (cfDNA) which is released into the bloodstream by necrotic and apoptotic cells. Elevated levels of cfDNA have been reported in patients with cancer and other types of diseases. The circulating cfDNA is released from both normal and tumor cells. The fraction of tumor-derived cfDNA (circulating tumor DNA/ctDNA) differs from patient to patient, depending on tumor entity, tumor stage, tumor burden, and other factors. Since only a fraction of circulating DNA is derived from the tumor, highly sensitive methods are required to detect minimal ctDNA concentrations. We at CeGaT established our CancerDetect® panel using UMI-based technology, which detects sequence variants in actionable, most prevalent hotspots. Moreover, due to non-invasive and repeatable sampling, CancerDetect® represents a great approach to monitoring. By very sensitive detection of tumor-specific biomarkers, the analysis of ctDNA can be used as a surrogate marker for treatment response during medical follow-up.
CeGaT’s CancerDetect® panel is ideally suited for monitoring and follow-up of tumor disease.
We will report all relevant findings in a medical report. This includes a list of all identified clinically relevant variants. These variants are clearly annotated with gene name, functional category of the mutation, transcript-ID, allele frequency, and effect on protein function. Each single medical report is prepared and discussed by an interdisciplinary team of scientists and physicians to guarantee highest quality.
The volume needed for liquid biopsy can depend on the sample type. 3x 10 ml are recommended for blood-based liquid biopsy. While it can be more for e.g. Aszite or less e.g. for liquor. We are happy to assist you for the individual case. Please contact us at tumor@cegat.de.
CancerDetect® can generally also be used for non- liquid biopsy based approaches. In case you are interested please contact us with your case specifics.
To provide the best possible liquid biopsy analysis, CeGaT has established and validated extensive liquid biopsy panels assessing cell-free DNA. Our comprehensive CancerPrecision® analysis has the potential to provide a complete genetic profile of the patient’s tumor by liquid biopsy testing and guide the physician to choose the best possible treatment, which can only be estimated after sequencing of the DNA from a liquid biopsy sample. Thus, there is a chance for the analysis to fail with limited possibilities to forecast the outcome in advance. Since the amount of ctDNA may be lower than 20%, CeGaT also provides a UMI-based panel that detects sequence variants in actionable, most prevalent driver mutations with an allele frequency above 0.25%. This highly sensitive detection of tumor-specific biomarkers represents an excellent tool for monitoring treatment response and minimal residual disease. Due to the high sensitivity of the approach, a failure due to low tumor content of the sample is much less probable.
All relevant variants in a named exon are analyzed. Exon numbers refer to coding exons (CDS) of the respective gene. The diagnostic is not limited to the listed example hotspot mutations. Exons not named and all variants within are not part of the analysis.
| Gene | NM_Nr. | Enriched region (incl. example hotspot (HS)-variants) |
|---|---|---|
| AKT1 | NM_005163 | Exon 2 (HS E17) |
| ALK | NM_004304 | Exons 21-25 (incl. HS F1174) |
| ARAF | NM_001654 | Exon 6 (HS S214) |
| BRAF | NM_004333 | Exons 11 and 15 (incl. HS V600) |
| CTNNB1 | NM_001904 | Exon 2 (incl. HS S37, S45) |
| EGFR | NM_005228 | Exons 18-21 (incl. HS E746_A750del, T790, L858) |
| ERBB2 | NM_004448 | Exon 8, 19-21 (incl. HS V842) |
| ERBB3 | NM_001982 | Exons 3, 6-9, 23 (incl. HS V104, E928) |
| ERBB4 | NM_005235 | Exon 12 (incl. HS E452) |
| ESR1 | NM_000125 | Exons 4-8 (incl. HS K303, Y537, D538) |
| FGFR2 | NM_000141 | Exons 6, 8, 11 (incl. HS S252, N549) |
| FGFR3 | NM_000142 | Exon 12 (HS V555) |
| GNA11 | NM_002067 | Exon 5 (HS Q209) |
| GNAQ | NM_002072 | Exon 5 (HS Q209) |
| GNAS | NM_000516 | Exon 8 (HS 201) and Exon 9 (HS Q227) |
| H3-3A | NM_002107 | Exon 1 (HS K27 and G34) |
| H3-3B | NM_005324 | Exon 1 (HS K37) |
| HRAS | NM_005343 | Exons 1-3 (incl. HS G12, Q61) |
| IDH1 | NM_005896 | Exon 2 (HS R132) |
| Gene | NM_Nr. | Enriched region (incl. example hotspot (HS)-variants) |
|---|---|---|
| IDH2 | NM_002168 | Exon 4 (HS R140, R172) |
| JAK2 | NM_004972 | Exon 12 (HS V617) |
| KIT | NM_000222 | Exons 9, 11, 13, 14, 17, 18 (incl. HS W557_K558del, D816) |
| KRAS | NM_004985 | Exons 1-3 (inkl. HS G12, Q61) |
| MAP2K1 | NM_002755 | Exon 3 (HS P124) |
| MET | NM_001127500 | Exon 18 (incl. HS Y1248, Y1253) |
| MYCN | NM_005378 | Exon 1 (HS P44) |
| NRAS | NM_002524 | Exons 1-3 (inkl. HS G12, Q61) |
| PDGFRA | NM_006206 | Exons 4, 9, 11, 13, 17 (incl. HS D842) |
| PIK3CA | NM_006218 | Exons 4, 7, 9, 13, 20 (incl. HS E542, E545, H1047) |
| PTEN | NM_000314 | Exons 5-7 (incl. R130, R233) |
| RAC1 | NM_018890 | Exon 2 (HS P29) |
| RAF1 | NM_002880 | Exon 6 (incl. HS S257, S259) |
| RET | NM_020975 | Exon 10, 11, 13-16 (incl. HS C634) |
| STAT5B | NM_012448 | Exon 15 (HS N642) |
| TERT | NM_198253 | Promotor HS c.-124 (C228), c.-146 (C250) |
| TP53 | NM_000546 | Entire coding region |
Genetic tumor diagnostics – the information basis for treatment decisions
In this webinar recording, our specialists will explain the possibilities and limitations of molecular genetic tumor diagnostics. Saskia Biskup (MD., Ph.D.) and Stefan Griesbach (Ph.D.) will present current approaches in the field of precision oncology and show how genetic diagnostics can support you in determining the best therapy for your patients.
Liquid biopsy in genetic tumor diagnostics –
CancerDetect®
In precision oncology, the genotyping of the tumor represents a very essential diagnostic step to guide treatment decisions. But it can be difficult or impossible to obtain a tumor sample, for example, in case of unresectable tumors or poor patient condition. Our colleague Dr. Olga Rataj explains how we address this issue with CancerDetect®.
Our dedicated support assists you in choosing the most appropriate diagnostic test for your patients.
