Cancer hotspot panel

Genetic testing for the most common somatic mutations in human cancers

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 ten days.

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  1. 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.

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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.

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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

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:

  • diagnosis
  • disease classification/stratification
  • prognosis
  • treatment

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.


Sample requirements

  • 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

or

  • 1 µg of DNA from tumor-enriched section

Sequencing platform

  • Cancer hotspots panel utilizes NGS sequencing on Ion PGM platform.

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