Cancer Hotspots Panel
Somatic Mutation Analysis Using Next Generation Sequencing for the Detection of the Most Common Somatic Mutations Causing Human Cancers
Somatic mutation analysis is a standard of practice for solid tumors in order to identify therapeutic
sensitizing and resistance mutations. The rapid discovery and introduction of new therapeutics have driven the demand for additional genomic information to adequately treat and guide cancer patients.
CENTOGENE offers a NGS panel for the detection of the most common somatic mutations that are
causing human cancers.
- Using next generation sequencing assay, the Ion Torrent AmpliSeq cancer hotspots panel is capable of identifying multiple somatic mutations (~2,800) in 49 genes in a single assay.
- Cancer hotspots panel contains several hundreds of primer pairs in a single tube and requires as little as 10 ng of DNA, enabling researchers to sequence challenging samples.
- The carefully selected somatic mutations (“hotspots” for certain genes and cancers) and conveniently predesigned process of the panel allows us to focus on data generation and analysis.
Who should be tested using cancer hotspots panel?
- Patients affected with any type of cancer where a mutational profile from somatic mutations in multiple genes is informative for the diagnosis or disease classification/stratification, prognosis, and improved treatment options
- Patients who have an increased risk of cancer due to environmental and other non-inherited factors
- Targeted somatic mutation testing can give results that could be exploited as prognostic, predictive and pharmacodynamic biomarkers relevant for the development and use of cancer therapeutics.
Example of one hotspot mutation from CENTOGENE´s cancer hotspots panel
The most common somatic mutation in BRAF gene is the V600E change in exon 15 which has been shown to activate the kinase activity of BRAF by simulating phosphorylation. This BRAF mutation is closely associated with a response to MEK inhibitors. V600E BRAF´s mutation status has been so far
informative in many cases affected with lung cancer, melanoma, colorectal and other cancers, and it was demonstrated that data about this particular mutation could help with the prognosis and/or therapeutic
selection for different forms of cancer.
As a component of the cancer hotspots panel, the V600E somatic mutation will be analyzed using the
targeted mutation sequencing and not the sequencing of the entire BRAF gene. Together with some other ~2,800 targeted hotspot mutations, samples from patients in need will be analyzed fast and with the
highest possible sensitivity and specificity.
Benefits of genetic testing using cancer hotspots panel at CENTOGENE
Identifying patients with a certain cancer can help with the medical management of the affected person.
Genetic diagnosis obtained by the application of the cancer hotspots panel can be further used to:
- Modify cancer surveillance options and age of initial screening
- Suggest specific risk-reduction measures
- Provide guidance with the latest gene-specific treatment options and risk reduction measures,
as they emerge
- Somatic mutation testing in cancer patients is simple, robust and reproducible
Cancer hotspots panel offer:
This cancer hotspots panel targets 49 genes and 2,800 most common mutations (“hotspots”) known for causing different types of human malignancies.
- CENTOGENE offers a comprehensive cancer hotspots panel which includes sequencing, data analysis and reporting in a cost-effective way and with a turnaround time of only 10 days.
- Cancer hotspots panel assesses all 49 genes simultaneously with high-accuracy, high-sensitivity and a coverage depth of ~2,000x, targeting 2,800 “hotspot” mutations localized within selected genes.
- Cancer hotspots panel includes the following genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL.
- Cancer hotspots panel utilizes NGS sequencing on Ion PGM platform.
- 10 FFPE section of thickness 5-10 µm with marked area of enriched tumor and accompanying
- 1µg of DNA from tumor enriched section or from bone marrow or blood (for leukemic malignancies)
- 1ml of EDTA blood or bone marrow aspirate (for leukemic malignancies)
Why choose CENTOGENE´s cancer hotspots panel:
- We offer a short turnaround time to the best price.
- We combine medical and technical expertise.
- Our reports deliver the results in an easy and understandable way, and if needed, recommendations for additional testing are included.