Tumor Diagnostics

CeGaT offers Tumor Diagnostics which includes two extensive tumor panels (Somatic Tumor Panel and Germline Tumor Syndromes) and the analysis of whole exomes. Due to the identification of germline and somatic mutations a differentiated diagnosis, follow-up and therapeutic strategy is possible. Additionally we offer the analysis of the genes BRCA1 and BRCA2 for patients with ovarian cancer for which the therapy with Olaparib is an option.

The CeGaT tumor panel diagnosis contains the complete sequencing of all genes using next-generation sequencing on the Illumina HiSeq platform, the data analysis and the issuing of a medical report by our experienced team of scientists and specialists in human genetics. Potentially pathogenic variants detected in the Germline Tumor Syndromes panel are validated by traditional Sanger sequencing.

Somatic Tumor Panel for treatment decision support

The Somatic Tumor Panel comprises 710 genes with known mutations that can have an impact on tumor development. In addition to sequencing exonic regions of these 710 genes we analyze selected translocations in 29 genes. For the detection of somatic mutations a normal tissue sample (usually blood) is needed in addition to a sample of the tumor. The identification of somatic mutations provides a more detailed diagnosis of tumors and can support treatment decision. Sequencing of genes contained in the panels is performed via next-generation sequencing on the Illumina HiSeq platform. The sequencing data is analyzed and a medical report is issued by our team of experienced scientists and medical doctors. For the CeGaT Germline Tumor Syndromes potentially pathogenic variants are validated with Sanger sequencing.

Tumor Whole Exome

In addition CeGaT offers the sequencing of complete exomes in order to identify all exonic somatic mutations. As for the CeGaT Somatic Tumor Panel tumor and normal tissue samples are needed for this analysis. The sequencing is performed on the Illumina HiSeq platform. The Tumor Whole Exome comprises more genes (> 20,000), but these genes are sequenced at a lower coverage (100 fold vs. 500-1000 fold for the Somatic Tumor Panel and Germline Tumor Syndromes).

Olaparib

Olaparib (LynparzaTM) was recently approved by the European Medicine Agency (EMA) for the treatment of recurrent, platinum-sensitive, high-grade serous ovarian carcinoma (OC). The detection of a somatic or germline mutation in the BRCA1 or BRCA2 genes is a requirement for treatment with this drug. While the EMA did not specify the origin of a mutation, the American Food and Drug Administration (FDA) recommend treatment with Olaparib only for germline mutations. CeGaT offers genetic diagnostics for both purposes, and recommends the comparison of both tumor and normal tissues for the most accurate and informative analysis.

Germline Tumor Syndromes

The Germline Tumor Syndromes is designed for diagnosis of hereditary tumor syndromes. 110 genes associated with a significantly increased risk of developing malignomas can be analyzed simultaneously. Subpanels comprising genes relevant for specific tumor syndromes are available. Depending on the family history, one or more subpanels can be analyzed. Subpanels are currently available for breast and ovarian cancer, colon cancer, familial melanoma, familial tumor syndromes, Fanconi anemia, pancreatic cancer, pheochromocytoma/ paraganglioma, prostate cancer, renal cell cancer and xeroderma pigmentosum.