Identifying somatic mutations for tumor profiling
Every cancer cell has its own pattern of mutated genes. This results in each cancer case, and even parts of the tumor, to be individual with respect to diagnosis, prognosis and treatment response. The presence of recurrent somatic mutations allows us to create a detailed molecular fingerprinting of the tumor and to identify important diagnostic tumor subtypes.
Downloads for somatic mutation testing
One pager - Acute myeloid leukemia tumor panelDownload
What do we know about somatic mutations?
Cancer is one of the leading causes of morbidity and mortality worldwide. Cancer can be the result of a genetic predisposition that is inherited from family members (germline (hereditary) gene mutation) or it can be the result of the acquired mutations accumulated during a lifetime (somatic (acquired) mutation). Most cancers are is independent of a germline (hereditary) mutation.
Unlike regular cells, cancer cells do not experience physiological elimination of “programmed cell death” or “apoptosis”; instead they continue to grow and divide. Tumor cells show uncontrolled proliferation if there are mutations in the genes involved in cell division .
Why choose CENTOGENE?
Methodological summary of CENTOGENE’s somatic mutation testing
- Panel: Bi-directional NGS sequencing for all genes included in the panels (listed here below)
Single gene: Bi-directional sequencing for somatic mutations associated for this gene
- Panel: NGS panel analysis with complete 100% coverage for the target regions (technical accuracy of <98.1%)
Single gene: Sequencing is with 96.5% coverage for the target regions (technical accuracy of <98.1%)
- For every panel gene and full gene analysis, the complete coding sequence, exon/intron boundaries 10 bp into the intron, relevant promoter gene regions and all HGMD described pathogenic variants are analyzed, with subsequent variant validation for any clinically relevant genetic variant detected.
Our medical and genetic experts can help determine which genetic testing is right to analyze the risk for hereditary cancer syndromes. After testing, result evaluation and specific recommendations for each individual case are necessary to decide on further steps for full patient care.
How can somatic genetic testing help patient care?
Somatic mutation analysis is a standard of practice for tumors in order to identify therapeutic sensitizing and resistance mutations. This allows a finer assessment of the diagnosis and prognosis and targeted therapies directed towards the individual patients tumor profile.
Our portfolio for somatic mutation testing
Single Gene Analysis
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