- Genetic Testing
- Somatic Mutations for Oncogenetics
- Cancer Hotspots Panel for Somatic Mutation Testing
Cancer hotspot panel – somatic mutation testing
Using next generation sequencing assay, the cancer hotspot panel is capable of identifying multiple somatic mutations (~2,800) in 49 genes in a single assay.
Find your genetic test
Detecting the most common somatic mutations causing human cancers
This cancer hotspot panel targets 49 genes and 2,800 most common mutations (“hotspots”) which are either known or discussed to carry valuable information for diagnosis, prognosis or treatment, of different types of human malignancies.
The cancer hotspot panel requires as little as 10 µg of DNA, enabling researchers to sequence challenging samples.
Downloads for cancer hotspot panel
Request form - Oncogenetic diseasesDownload
When to suggest the cancer hotspot panel
The cancer hotspot panel can be recommended for the following patients:
- 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
Scientific articles on somatic mutations
Thrombocytopenia is a disorder of haematopoetic cells with predominant defects of platelets and it is defined as having a platelet count of less than 150,000 in mL of circulating blood, while the normal number of platelets ranges between 150,000 and 450,000 cells per mL of blood. Platelets are haemopoetic cells that play a primary role in haemostasis, interacting with subendothelium-bound von Willebrand factor (VWF) via the membrane glycoprotein complexes.
Robustness of comprehensive DNA- and RNA-based assays at diagnosis of acute myeloid leukemia using blood and bone marrow stored on filter cards
"Molecular analyses in hematologic malignancies gained considerable importance in the last decade at diagnosis and for minimal residual disease (MRD). In our study, we performed a comparison of state-of-the-art cytogenetics, FISH and molecular diagnostic assays based on standard liquid peripheral blood or bone marrow samples and on diagnostic material stored on filter cards."
Example of one hotspot mutation from CENTOGENE's cancer hotspots panel:
The BRAF gene encodes B-Raf proto-oncogen, the most potent activator of the mitogen-activated kinase (MAPK) and extracellular-regulated kinase (ERK). Somatic mutations in this gene are associated with multiple types of cancers, including myeloid malignancies, non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small-cell lung carcinoma, and lung adenocarcinoma. Mutations in the RAS/BRAF/MEK/ERK pathway occur in approximately 30% of all cancers, with BRAF mutations in approximately 7% of cancers. 90% of all BRAF mutations are characterized by a thymine-to-adenine single-base change at position 1799 that leads to a glutamine-for-valine substitution in exon 15 at residue 600 (V600E). BRAFV600E is a 500-fold gain-of-function mutation leading to constitutive activation of MEK/ERK signaling. Additional somatic mutations have also been reported in BRAF (V600G, V600A, V600E, V600K, L597V, Y472C, G469L, G469V, G469A, G466V and others) and are targeted in the hotspot panel.
Information on an occurrence of BRAF variants helps with the prognosis and/or therapeutic selection.
As a component of the cancer hotspot panel, the V600E somatic mutation will be analyzed using the targeted mutation sequencing.
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 hotspot panel at CENTOGENE
Decisive information for:
- disease classification/stratification
CENTOGENE's cancer hotspot panel offers:
- Cancer hotspot panel assesses all 49 genes simultaneously with high accuracy, high sensitivity and a mean coverage depth of >1,000x, 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.
- Ten sections of 5–10 µm thickness from the FFP tissue with areas of enriched tumor clearly marked accompanied with pathology report and oncology report in case of a relapse testing
- 1 µg of DNA from tumor-enriched section
- Cancer hotspots panel utilizes NGS sequencing on Ion PGM platform.