CancerEssential®

Cost-effective analysis for the identification of actionable variants in solid tumor entities

CancerEssential® has been developed in cooperation with oncologists and pathologists in order to provide a fast, cost-efficient and high-quality analysis of the most important driver mutations within the most common tumor entities. The detection of these specific mutations in tumor tissue has a clear treatment consequence with respect to approved and targeted treatment.

Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!

What We Offer with This Service

Highest Quality

Multigene panel diagnostics, incl. SNVs, selected fusion genes, and MSI

Flexibility

Gene sets can be requested individually or in combination with other gene sets

Sensitivity

Sensitivity*: > 99.8%
Specificity: > 99.9%

Comprehensive Medical Report

Created by our interdisciplinary team of experts

* Based on a high-quality sample with 20% tumor content for detecting a somatic heterozygous variant.

Our Promise to You

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Fast Turnaround Time

2–3 weeks after sample receipt

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Safety

Highest confidentiality and quality standards

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Reliability

Reliable support throughout all steps

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Comprehensibility

Clearly prepared medical report

Your Benefits

  • Multigene panel testing
  • Analysis of single nucleotide variants (SNVs), selected fusion genes, and microsatellite instability (MSI) status
  • High average sequencing coverage: 1,000x
  • Sensitivity*: > 99.8%; Specificity: > 99.9%
  • A list of all eligible drugs, with EMA and/or FDA approval, for which corresponding biomarkers could be detected in the tumor – learn more

We will report all relevant findings in a medical report. This includes a list of all identified clinical relevant variants. These variants are clearly annotated with gene name, functional category of the mutation, transcript-ID, allele frequency, and effect on protein function. If requested, we also report the microsatellite instability status. Each single medical report is prepared and discussed by an interdisciplinary team of scientists and physicians to guarantee highest quality.

* Based on a high-quality sample with 20% tumor content for detecting a somatic heterozygous variant.

Method

The enrichment of the coding regions and the adjacent intronic regions is performed using a in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High-throughput sequencing is performed on our Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.

Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.

Sample Report

General Information

Our Standard Sample Requirements

Sample requirements for all analyses (minimum 20% tumor content):

  • DNA (> 200 ng) or
  • FFPE tumor block (recommended sample type) or
  • FFPE tissue slides (minimum 10 slides)
  • If possible: H&E-stained slides with tumor area distinctly labeled. Please report the tumor content (of the labeled tumor area).

MSI only: Normal tissue in addition to tumor tissue:

  • 1–2 ml EDTA blood (recommended sample type) or
  • 1–2 µg DNA or
  • FFPE block with normal tissue of the patient
  • If possible: H&E-stained slides with tumor and (if a blood sample is not available) normal tissue area distinctly labeled. Please report the tumor content (of the labeled tumor area).

Here you can find more information on how to ship your sample safely.

Turnaround Time

  • Turnaround Time: 2–3 Weeks

Costs

The prices for our human genetic diagnostics depend on the size of the selected Diagnostic Panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.

Diagnostic Process

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Counseling & Test Selection

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Sampling & Shipment

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Sample Analysis

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Medical Report & Counseling

This Is What Makes Our CancerEssential® Service Special

Variants with Potential Therapeutic Relevance

Guidance on potentially effective drugs

For each gene, the somatic change is depicted in detail, and the resulting therapeutic options are stated, including the EMA/FDA approval (A). These options are the basis for discussion in a molecular tumor board (MTB).

At the end of the medical report, in the appendix/supplement, we provide an extensive list of possible therapeutic strategies for each identified somatic change (B). This list includes drug classes and names as well as their approval (FDA/EMA) and limiting conditions.

Excerpt of a sample report, listing variants with potential therapeutic relevance

Sample Report: Exemplary for the EGFR variant detected and the resulting therapeutic options in a patient with non-small cell lung cancer. Top panel (A): An excerpt from Table 1 of the findings, listing variants with therapeutic relevance. Lower part (B): An excerpt of the drug listing. In addition to the drugs shown, other drugs are also described.

Gen-Sets – CancerEssential®

Melanoma (PAT01, 7 Genes)

BRAF, CDKN2A, GNA11, GNAQ, KIT, NRAS, TP53

Colorectal Cancer (PAT02, 16 Genes)

AKT1, BRAF, CTNNB1, EGFR, ERBB2, FBXW7, KRAS, MLH1, MSH2, MSH6, NRAS, PIK3CA, PMS2, PTEN, SMAD4, TP53

Lung Cancer (PAT03, 19 Genes and 3 Translocations)

AKT1, ALK, BRAF, EGFR, ERBB2, FBXW7, FGFR1, FGFR2, FGFR3, KRAS, MAP2K1, MET, NOTCH1, NRAS, PIK3CA, PTEN, RET, ROS1, TP53, ALK translocation, RET translocation, ROS1 translocation

Gastrointestinal Stromal Tumors (PAT04, 4 Genes)

BRAF, KIT, PDGFRA, TP53

Glioma (PAT05, 10 Genes)

BRAF, EGFR, H3-3A, H3C2, IDH1, IDH2, PIK3CA, PTEN, TERT, TP53

Breast- And Ovarian Cancer (PAT06, 15 Genes)

AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, ERBB2, ESR1, PALB2, PIK3CA, PTEN, RAD51C, RAD51D, TP53

Thyroid Cancer (PAT07, 7 Genes)

BRAF, HRAS, KRAS, NRAS, PIK3CA, RET, TP53

Cholangiocellular Carcinoma (PAT09, 5 Genes)

IDH1, IDH2, KRAS, PIK3CA, TP53

Pancreatic Cancer (PAT10, 8 Genes)

BRCA1, BRCA2, CDKN2A, CHEK2, ERBB4, KRAS, SMAD4, TP53

BRCA1 and BRCA2 (PAT11, 2 Genes)

Options:

  • BRCA1 and BRCA2 analysis only in tumor tissue (BRC01)
  • BRCA1 and BRCA2 analysis only in normal tissue (incl. Del/Dup) (BRC02)
  • BRCA1 and BRCA2 analysis in tumor and normal tissue (BRC03) (incl. Del/Dup in germline)

Prostate Cancer (PAT12, 20 Genes)

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCL, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51B, RAD51C, RAD51D, RAD54L, SPOP, TP53

Gastric Cancer (PAT13, 18 Genes)

AKT1, ATM, BRAF, BRCA1, BRCA2, CHEK2, CTNNB1, ERBB2, KRAS, MLH1, MSH2, MSH6, NRAS, PIK3CA, PMS2, PTEN, SMAD4, TP53

Structural Variants (9 Genes)

Selected therapy relevant fusion are evaluated additionally without further costs.
NTRK1, FGFR1, FGFR2, FGFR3, BRAF, ALK, RET, MET, ROS1

MMR-Panel (PAT14, 4 Genes)

MLH1, MSH2, MSH6, PMS2

Analysis for Microsatellite Instability (MSI) Via PCR (MSI-Analysis)

(Marker: BAT25, BAT26, NR21, NR22, NR27)

Downloads

Order Form CancerEssential®
Sample Report CancerEssential®
Tumor Diagnostics Brochure (EN)
CancerPrecision Flyer (EN)

Contact Us

Do you have a question, or are you interested in our service?

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Diagnostic Support

We will assist you in selecting the diagnostic strategy – for each patient.

Tumor team of CeGaT