CeGaT’s Genetic Tumor Diagnostics: Significantly Enhanced Medical Reporting

CeGaT has updated its Somatic Tumor Panel: Sequencing of 742 genes in tumor and normal tissue, reporting of treatment option, TMB and MSI determination, illustration of tumor-relevant signaling pathways. This helps physicians to identify the best therapeutic strategy.

Every tumor has an underlying genetic cause: a unique set of mutations that help the tumor to survive, reducing its sensitivity to treatment and developing resistance against drugs. Knowing a tumor’s mutations helps to identify promising therapeutic strategies and to avoid ineffective treatment options with their associated side effects. The goal of our Somatic Tumor Panel is to analyze all genes known to be involved in the development and progression of a tumor and to make this information accessible by means of a comprehensive and actionable medical report.

Our medical report on somatic tumor mutations features a wide range of analyses that offer physicians a detailed understanding of the molecular changes within the tumor cells. All our analyses are designed to assist the treating oncologist to choose an individualized treatment for each patient:

  • Treatment options

Our comprehensive medical report describes which of the tumor’s somatic mutations have potential therapeutic relevance. We list all treatment options.

  • TMB/MSI determination

Reliable determination of tumor mutational burden (TMB) and microsatellite instability (MSI) is a basis for a decision on immunotherapies with checkpoint inhibitors.

  • Illustration of tumor-relevant signaling pathways

Understanding altered signaling in the tumor helps to find its vulnerabilities and allows to identify the tumor’s possible bypass strategies.

We continuously update our panel according to recent scientific publications. For this update 32 genes have been added. We now analyze 742 tumor associated genes and selected translocations in 31 genes.

To ensure the highest sensitivity, specificity, and accuracy, we base our analysis on tumor and matching normal tissue. Only this approach guarantees accurate results. To maximize diagnostic yield, we include the analysis of single nucleotide variants (SNVs), insertions and deletions (INDELs), and copy number variants (CNVs).

We also offer a liquid biopsy option: Liquid biopsy is a useful method to access tumor tissue if it is not possible to obtain tumor tissue through surgery.

Sequencing, bioinformatic analysis and scientific interpretation are all done in-house by our specialized team. Our laboratory is fully accredited according to CAP, CLIA and DIN EN ISO 15189:2014.

For any questions please contact our team at sales@cegat.de. The somatic tumor analysis can be ordered here.

Tumor Immuno-Oncology as an Independent Analysis with Biomarker Tumor Mutation Load (TMB) and Microsatellite Instability (MSI)

CeGaT now offers the analysis of tumor mutational burden (TMB) and microsatellite instability (MSI) as a stand-alone analysis. The diagnostic portfolio of genetic tumor diagnostics is thereby expanded with a specific test for decisions on immunotherapy using checkpoint inhibition.

Immunotherapy has become an important and promising treatment option for cancer patients in recent years. Immune checkpoint inhibition is already a frequent therapy recommendation of the Molecular Tumor Board at the University Hospital in Tübingen. Its relevance to medicine and society has also been recognized by the Nobel Prize Committee, which has awarded this year’s Nobel Prize for Medicine to James P. Allison and Tasuku Honjo for their discovery of cancer therapy by inhibition of negative immune regulation.

CeGaT supports oncologists in carrying out this innovative therapy option in clinical practice. CeGaT’s TMB analysis has been available since 2017, as a part of the Somatic Tumor Panel for Treatment Decisions. Offered as a stand-alone analysis, the TMB diagnostics is now available with shorter turnaround times, improved cost-efficiency, and features our industry-leading high quality.

TMB as a predictive tumor marker for immuno-oncology

The benefit of immunotherapy using immune checkpoint inhibitors is undeniable, yet success rates still vary. Despite the same diagnosis, some groups of patients respond better to immunotherapy than others. Therefore, there is a need to identify and standardize new biomarkers for the identification of groups of patients that respond well to immunotherapy. One of these biomarkers is tumor mutation burden (TMB).

A growing number of studies are providing evidence that tumor mutational burden (TMB) is a good marker for treatment of tumor patients. It is defined as the number of somatic mutations per million base pairs (Mut/Mb). High TMB is associated with an increased response to therapy with immune checkpoint inhibitors.

High-quality determination of TMB is the basis for therapeutic decisions on checkpoint inhibition and should be regarded as part of routine diagnostics in tumor therapy.

The CeGaT TMB analysis can be requested here:

Tumor Immuno-Oncology Analysis (TMB and MSI)

For further assistance please contact our team at sales@cegat.de.

Panel Update: Tumor Diagnostics

In accordance with the latest scientific findings, we are updating our somatic tumor panel. The total number of genes on this panel is now 710, up from 649. The panel now includes mutational load analysis of the tumor and also supports the examination of leukemia and lymphoma.

The current update was designed to enable personalized therapy decisions, determined by an interdisciplinary tumor board, addressing solid tumors, leukemia and lymphoma. We’ve added additional genes that, according to the latest scientific findings, are linked to the development, growth, disease outlook, drug metabolism, and tumor therapy outcome. The examination of selected translocations is now performed in 29 genes.

In addition to the reporting of these treatment-relevant gene changes, we are also expanding our medical reports by reporting the mutation load of the tumor. Data increasingly suggests that tumors with very high mutation load have increased numbers of neo-antigens on the cell surface, and may therefore respond particularly well to immunotherapeutic approaches, such as checkpoint inhibitors.

In the context of genetic counseling, it is also possible to carry out tumor diagnostics by performing a liquid biopsy (blood test). If you would prefer this option, please arrange a personal appointment.

In parallel to these changes, we have also updated our panel for the diagnosis of hereditary tumor diseases by expanding the number of analyzed genes from 110 to a total of 124. Genes associated with increased tumor risk in gastric carcinoma, Cowden’s syndrome, as well as tumors of the central nervous system have been added. Furthermore, several indications already included in the panel have been extended by the addition of the new genes.

Somatic Tumor Panel

Selective BRCA1/2 diagnostic testing prior to Olaparib therapy

CeGaT expands tumor diagnostics services by introducing selective BRCA1/2 testing for ovarian cancer.

Olaparib (LynparzaTM), a promising drug for the treatment of recurrent, platinum-sensitive, high-grade serous ovarian carcinoma, was approved by the European Medicines Agency (EMA) in 2015. One requirement for the therapy with Olaparib is the detection of a mutation in the genes BRCA1 or BRCA2.
Both genes have always been included in our Somatic Tumor Panel; however, due to their importance for the prescription of Olaparib, CeGaT has decided to offer a test specific for BRCA1 and BRCA2. Using this test, mutations in these genes will be detected quickly and directly, saving time when critical therapy decisions need to be made.

For further information on BRCA1/2 testing, please visit the section for ovarian cancer.

Comprehensive update of Somatic Tumor Panel

Research in the field of tumor genetics advanced greatly in recent years. In order to incorporate the latest developments and findings in our Tumor Diagnostics services, the Somatic Tumor Panel has been completely revised and expanded from 551 to 649 genes.

With the updated Somatic Tumor Panel it is now also possible to detect translocations in 28 selected genes. Translocations (such as ALK and ROS1 fusions in lung cancer) play an important role in many cancers, enabling a highly targeted treatment.

For the list of genes and further information please visit the Somatic Tumor Panel section of our website.