Reliable tumor diagnostics require more than just analyzing tumor tissue. Only by comparing it with normal tissue can tumor-specific variants be precisely identified and distinguished from hereditary germline mutations. Not only does this improve therapy planning, but it also enables early detection of hereditary cancers and the implementation of appropriate preventive measures.
For more than a decade, CeGaT has been using this approach, consistently applying a comprehensive tumor-normal tissue comparison in tumor diagnostics:. With CancerPrecision®, we offer a diagnostic solution that precisely distinguishes tumor-specific variants from hereditary alterations, supporting well-founded, personalized therapy decisions.
Why is tumor-normal tissue comparison so important?
- Preventing misdiagnoses: Without comparison to normal tissue, genetic alterations may be misclassified—hereditary mutations could be mistakenly interpreted as tumor-specific changes or vice versa. Additionally, the presence of an inherited pathogenic variant does not necessarily mean it caused the tumor. Only by comparing tumor and normal tissue can we determine whether a pathogenic variant is the key driver of a specific tumor. This analysis also identifies an additional genetic alteration (“second hit”) that promotes tumor growth. Furthermore, detecting a germline variant is essential for the approval of certain medications, making the precise classification of genetic changes crucial.
- More precise biomarker determination: Comparing tumor and normal tissue increases the accuracy of key biomarker assessments, including TMB (tumor mutational burden), MSI (microsatellite instability), and HRD (homologous recombination deficiency). This approach helps prevent overestimation of TMB value, which can otherwise lead to incorrect indications for immunotherapy. It is particularly beneficial for patients from ethnic groups that are underrepresented in public genetic databases, as the tumor-normal comparison eliminates the need for unreliable prediction models.
- Family screening and genetic counseling: Identifying a hereditary predisposition enables early preventive measures and targeted counseling for affected family members, allowing for early risk detection and the implementation of appropriate prevention strategies.
CancerPrecision®: The Most Comprehensive Tumor Analysis for Precise Therapy Decisions
For more than a decade, CeGaT has been setting the standard in molecular tumor diagnostics. With CancerPrecision®, we provide a comprehensive molecular genetic tumor profiling solution that utilizes cutting-edge next-generation sequencing (NGS) technology, incorporating tumor-normal tissue comparison. The analysis covers over 700 genes and more than 30 therapy-relevant gene fusions, making it suitable for all solid tumor types. In addition to detecting therapy-relevant somatic mutations, it also reports disease-causing germline variants. Key biomarkers such as HRD, TMB, MSI, and viral infections (HPV, EBV, MCV, CMV) are precisely determined. Our high-depth sequencing approach also enables the detection of therapy-relevant subclones. Based on the results, we provide a list of suitable EMA/FDA-approved medications. The optional RNA-based fusion transcript analysis offers additional targeted therapy options.
With our extensive experience and continuous innovation, we ensure the highest quality and clinical relevance. CancerPrecision® supports you in making the best possible, individualized therapy decisions for your patients.
We are happy to assist you in selecting the optimal diagnostic strategy. Call us at +49 (0) 7071 565 44 55 or email us at tumor@cegat.com.