Solid tumours Detect&Act

Molecular genetic testing is clinically indicated in patients diagnosed with a solid tumour where genomic characterisation is required to guide treatment planning.

Genetic testing is clinically indicated for:

• Individuals with a personal history of a solid tumour meeting syndrome-specific testing criteria (e.g., breast, ovarian, colorectal, endometrial, pancreatic, prostate, gastric, or rare tumours such as adrenocortical carcinoma or phaeochromocytoma)
• Individuals with early-onset cancer or multiple primary tumours
• Individuals with a significant family history of cancer suggestive of a hereditary predisposition
• Individuals with a known pathogenic/likely pathogenic (P/LP) variant in a cancer susceptibility gene identified in a blood relative (cascade testing)
• Patients in whom a P/LP variant identified on tumour genomic profiling requires germline confirmation
• Patients for whom germline status would inform systemic therapy or surgical planning

Solid tumours account for approximately 90% of adult cancers and frequently harbour complex genomic alterations that influence prognosis and therapeutic response. Identifying these molecular changes has direct implications for clinical management, enabling more precise tumour characterisation and supporting personalised treatment strategies.

Genomic profiling provides clinically actionable insights by identifying biomarkers that inform targeted therapy selection and eligibility for genotype-matched clinical trials. Incorporating molecular profiling into clinical decision-making supports more effective, individualised treatment approaches and optimises patient outcomes.

Please note that histopathology services are not available in our German laboratories; however, suitable options within the wider can be explored to support this analysis.

Reports issued to the referring clinician will include one or more of the following result categories:

Pathogenic or likely pathogenic (P/LP) variant detected: A clinically significant variant has been identified in a cancer susceptibility gene. The report details the gene, variant, associated cancer risks, and recommended management actions. Cascade testing of at-risk relatives is advised.

Variant of uncertain significance (VUS): A variant has been identified for which current evidence is insufficient to classify it as pathogenic or benign. Clinical management should not be altered on the basis of a VUS. These variants are subject to periodic reclassification as new evidence emerges.

No pathogenic variant detected (negative): No P/LP variant was identified in the genes analysed. A negative result does not exclude hereditary cancer risk, particularly if no familial variant was known beforehand (uninformative negative). Risk assessment based on personal and family history remains important.

Genetic test results should always be interpreted in the context of the patient’s clinical presentation. A normal or inconclusive result does not fully exclude a genetic or molecular cause, as testing is limited by current knowledge, available methodologies, and the genes or regions analysed.

Depending on the findings, the following next steps may be considered:

• Clinical follow-up: Further medical evaluation or targeted assessments may help clarify the relevance of the results and guide patient management.
• Reference to guidelines: Clinicians may refer to current international recommendations for diagnosis, surveillance, and treatment where applicable.
• Reanalysis or expanded testing: If symptoms evolve or new scientific insights become available, re-evaluation of existing data or additional testing may be appropriate.
• Familial implications: If a clinically relevant variant is identified, genetic counselling and targeted testing for at-risk relatives may be offered.
• Variants of uncertain significance: These findings should not be used for predictive testing. Their interpretation may change over time, and periodic review can be considered.
• Genetic counselling: Recommended for all patients to support result interpretation, discuss implications, and guide decision-making for both the individual and family.

is an essential part of the testing process and is available both before and after testing. Our genetic counsellors conduct comprehensive family history assessments, explain the chosen testing methodology, its benefits, risks, and limitations, and provide guidance on result interpretation, management strategies, and recurrence risk. Counselling supports physicians in delivering informed care and helps patients and families make well-informed medical decisions. Availability of genetic counselling services may vary by country, so please to check for more information on access in your region.

In our laboratory, we utilise cutting-edge techniques to guarantee that our clients receive accurate, advanced diagnostic results.

technologies offer a reliable and highly sensitive diagnostic method, enabling the cost-effective, parallel sequencing for hereditary cancer gene panels with extremely high capacity.