Update of the Panel for Hereditary Tumor Diseases (CAN)

Prevention is the most important measure in the fight against tumor diseases. Every fifth tumor develops due to a hereditary predisposition. Knowing predispositions and being able to initiate appropriate early detection examinations is a central component in the prevention of metastatic and late-detected disease progression.

Since its foundation in 2009, CeGaT has been specializing in comprehensive large panel diagnostics. We pursue a panel-based approach in the field of tumor diagnostics, as it allows us to achieve the highest possible sensitivity and thus the highest possible certainty in the clarification of hereditary predispositions to tumor diseases.  We always sequence all genes of the tumor panel in parallel and evaluate the requested gene set according to the indication with priority. Hereditary breast and ovarian cancer, hereditary colorectal cancer, hereditary pancreatic cancer, and hereditary prostate cancer are among the most frequently requested indications. However, rare tumor diseases such as brain tumors, skin tumors, or endocrine tumors can also be hereditary.

Based on scientific findings relevant to patients, CeGaT has now again expanded and technically optimized its tumor diagnostics in the context of the regular product updates.  New gene sets have been included in the large Panel for Hereditary Tumor Diseases (CAN). Our current update thus expands the panel’s range of application in germline diagnostics, which allow the reliable and fast detection of genetic cancer predispositions.

Six new tumor entities in addition to the already examined indications are now covered by the panel:

– Gastrointestinal stromal tumors (CAN15)

– Gastrointestinal neuroendocrine neoplasia (CAN16)

– Thyroid neoplasias (CAN17)

– Lung tumors (CAN18)

– Urinary tract tumors (CAN19)

– Basal cell carcinomas (CAN20)

The detection of pathogenic and thus possibly disease-causing variants in the genes examined is just as relevant for the early detection and therapy of those affected as it is for predictive diagnostics in healthy family members.

Our diagnostic services give you access to the most comprehensive, flexible, and cost-efficient differential diagnostics with the highest possible diagnostic sensitivity performed by a nationally (by DAkkS) and internationally (by CAP/CLIA) accredited laboratory. If required, we can quickly extend the analysis to other gene sets at any time after individual consultation. Also, we offer an “all-inclusive” screening of all differential diagnostic relevant genes of the panel for variants of ACMG classes 4 and 5 if an indication in a family cannot be assigned to one gene set. CeGaT’s diagnostic services also include the regular re-evaluation of variants of uncertain clinical significance (VUS). This service is available free of charge and can be requested at any time, to ensure that the families are cared for throughout the disease and to increase the rate of diagnostic clarification further. Germline diagnostics considers single nucleotide variants (single-nucleotide variants, SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) of single and/or multiple exons. For each gene included in the gene sets, we analyze all coding regions as well as known pathogenic intronic variants.

In the case of variants of uncertain clinical significance, we also recommend somatic tumor diagnostics examining tumor tissue of affected family members. Please feel free to contact us at any time if you have any questions. We are at your disposal at sales@cegat.com. The new panel can be requested here.