Molekulare Onkologie

The discovery of specific genetic alterations in malignant tumors has opened up new directions in cancer research. Knowledge about the function of oncogenes and tumor proteins has fundamentally contributed to the understanding of the molecular and cellular principles of malignant growth. Based on these principles we carry out molecular analyses of genes involved in the emergence and progression of human cancers. We are particularly focused on aspects of:

• early detection of cancer • detection of minimal residual disease • sensitivity and resistance to anticancer therapy 

Numerous molecular markers are available for the detection of circulating tumor cells in the bloodstream. From our wide panel of offered parameters we select the appropriate combination of analyses depending on each specific case. 

Since carcinomas are of epithelial origin and epithelial cells are normally absent in blood, genes of epithelial cells can be indicative of circulating carcinoma cells. In this context, the cytokeratin genes (e.g. CK19, CK20) are suitable markers for some carcinomas. Depending on the origin of the tumor, genes which code for specific organ functions can be measured in the blood. For example, the detection of cells expressing the prostate specific antigen are indicative for circulating prostate carcinoma cells. 

Further typical cancerous aberrations are mutations in oncogenes (e.g. K-ras), allelic losses, gene promoter hypermethylation, or overexpression of particular genes (e.g. erb-b2, EGFR). Genes are known to be silent in normal tissues but to be reactivated in malignant cells (e.g. telomerase, G250). 

Once detected, the determination of resistance factors and metabolic properties of the tumor cells can provide important information for the selection of an appropriate therapy. For many anti-cancer drugs metabolic enzymes are known, whose differential expression in tumor cells may influence the effect of the therapy. Measuring the enzymatic activities of these metabolizing genes can give important information on how the tumor cells will respond to anti-cancer drugs and to asses which therapies will be the most suitable.

In recent years novel drugs were developed which are accurately directed against specific target molecules (e.g. Herceptin, Iressa, Gleevec, Cetuximab, Sutent, Lapatinib,...). A therapy with these specific inhibitor only appears to be rational if the molecular targets are present in the tumor cells. We use genetic analysis if these molecular drug targets are expressed in the isolated tumor cells and a therapy with these potent drugs is sensible.

cells, high-risk and low-risk patients can be identified. High-risk patients may benefit from adjuvant therapies.

Resistance factors can be identified in these cells which can provide important information for setting up an optimized therapy. Molecular analysis may facilitate decisions about the: 

  • early initiation of therapy
  • targeted, patient-specific therapy
  • identification of drug resistance
  • monitoring of therapy response

The analyses at Biofocus is a two-step process. In the first step we try to detect disseminated cancer cells from the bloodstream. Depending on the underlying type of tumor disease, we choose a panel of parameters which are relevant for the detection of disseminated cancer cells originating from this type of tumor. If disseminated tumor cells are detected, the patient may be considered on higher risk for a possible relapse. Our detection rate for CTCs is ca. 80% in advanced stage CA. This detection rate is lower in sarcoma and lymphoma. 

If samples are positive for CTCs, we can anaylse in a second step the tumor cells for chemo-resistance markers to aid in selection of an appropriate therapy. 

Since different tumors are treated with different drugs, the actual panel of drug modalities depends on the underlying type of tumor.

  • Our analyses are usually made from blood
  • We usually need about 20 ml of blood, provided in two heparinized glass BD Vacutainers, 10 ml, green cap
  • Comparable blood drawing devices are also suitable, however they must contain heparine as an anti-coagulant and must be made of glass.

Contact for ordering blood shipment kits:

North Amerika:Cameron Packaging, Lima OH, phone: 4192229404
Cameron Packaging Website
Other countries:Biofocus GmbH, phone +49 2361 3000-130

All blood sample must be shipped in an insulated container (foam box) with some REFRIGERATED (not frozen!) cooling bags enclosed. Ship the blood samples ASAP after they have been drawn. 

Molecular determination of chemoresistance markers can also be done on other specimens like tumor tissues or biopsies.

Please inquire for detailed information about packaging and shipping of such materials

For prices, please see the requisition form in the link

Requisition form

Test 1 Molecular Detection of Circulating Tumor Cells (CTCs)

By this assay, we only check if CTCs are present in the blood sample. Further assays like chemosensitivity testing or testing for use of alternative agents could be done afterwards without sending a new specimen.

Our detection rate for CTCs is ca. 80% in advanced stage CA. If we cannot find CTCs, we charge costs for test option #1 only.

Specimen required: 20 ml heparinized blood. Appropriate blood shipment kits at:

Turn-around time: 10 working days

Test 1.1 /1.2 Chemoresistance testing of CTCs

If CTCs are detected, molecular markers for drug resistance and drug targets are analyzed by genetic profiling. The testing allows an estimation which drugs are more appropriate or less useful for therapy.

Test 1.1 focuses on most relevant chemo-drugs only.

Test 1.2 Markers for all chemotherapeutic drugs as well as alternative agents are analyzed.

Specimen required: 20 ml heparinized blood. see:

Turn-around time: 10 working days

Test 1.3 testing for use of alternative agents

This assay is a subset of the test 1.2. CTCs in the blood are analyzed for drug targets for alternative agents but not for chemotherapeutic drugs.

Specimen required: 20 ml heparinized blood. see:

Turn-around time: 10 working days

Test 1.4 testing for hypermethylation genotype

Testing CTCs for possible anti-methylation therapies.

Specimen required: 20 ml heparinized blood. see:

Turn-around time: 10 working days

Test 1.5 testing for immune-modulating drugs PD-1 inhibtors

Testing CTCs for immune-modulating therapies with PD-1 Inhibitors like Nivloumab Pembrozilumab.

Specimen required: 20 ml heparinized blood. see:

Turn-around time: 10 working days

Tests 2, 3, 4 “liquid biopsy” testing for selected mutations

The use of certain tumor specific drugs is determined by presence of distinct mutations. These mutations can be detected in blood, especially if no tissue sample is available. Moreover, secondary occurring mutations associated with treatment failure can be identified by monitoring blood samples of the patient.

Specimen required: 10 ml heparinized blood. Appropriate blood shipment kits at:

Turn-around time: 5 working days

Test 5 Immune function testing by the Cellular NK-Test

The immune cells isolated from a patients’ blood sample are tested how efficiently tumor cells are destroyed. Immune-stimulation additives can be used in the assay to check if the efficacy of tumor cell lysis could be enhanced.

Specimen required: 30 ml freshly drawn heparinized blood in addition to test 1 (1.x) (50 ml in total if requested together with one of tests 1 or1.1 – 1.5)

Turn-around time: 5 working days

Shipment costs:

If you send on our FedEx account (recommended), we charge 80.- Euro in addition to the analysis costs. Please inquire for our FedEx account number.

The analysis report is sent most conveniently by email as a PDF-document. Fax is also possible.

Please provide an email address or fax no. on the requisition form.

In addition we always send by post hardcopies of the reports including a detailed invoice and receipt of payment. 

The blood is drawn in BD Vacutainers. It is important to use heparinized Vacutainers made of glass but not of plastic!

In total, 20 ml of blood in two Vacutainers is needed for the CTC analysis. For the cellular NK-test, 30 ml blood is needed in addition. 

Materials required

BD Vacutainer blood collection set (butterfly), BD Vacutainer holder, BD Vacutainer collection tubes. Vacutainer specifications: 10 ml, glass, green cap, sodium heparine for anticoagulation (BD Biosciences, Franklin Lakes, NJ, USA. Catalogue #366480,

Step1Step 1:
Remove the blood collection set from the packaging and attach it to the BD Vacutainer holder. Never use a blood collection set without the holder.

Step 2:
Access the vein using standard needle insertion technique. If the vein is properly accessed, blood will enter the tubing.
Step3Step 3:
While the needle is still in the vein, apply the green capped glass tube to the BD Vacutainer holder until the tube is filled with blood. Remove the tube from the holder. If more than one tube has to be collected, insert a new one into the holder. Upon completion of collection, apply light pressure to blood collection site and withdraw the blood collection set.

Invert (put upside-down) the blood Vacutainer tubes several times to avoid agglutination of the blood.

  • Samples must arrive at Biofocus lab within 48 hours .
  • Send per FedEx International Priority service using our FedEx account. Please inquire for our customer number.
  • U.S. shipment recommended on Mondays or Tuesdays to arrive in time before the weekend
  • The blood samples must not be frozen! Do not use dry ice for cooling! Refrigerated icepacks works best!

Contact for ordering blood shipment kits:

North Amerika:Cameron Packaging, Lima OH, phone: 4192229404
Cameron Packaging Website
Other countries:Biofocus GmbH, phone +49 2361 3000-130,


Blood shipment kit required:
  • Cooling box (e.g. foam box)
  • Secondary receptacle with adsorbent (towel) and BD Vacutainer
  • Standard gel packs for cooling for ordering see above. Do not use frozen icepacks, just refrigerate!
shipment1Step 1:
Since the Vacutainer is made of glass, it is important to put the Vacutainer in an appropriate secondary receptacle protecting it from damage.

Step 2:
Put the protected Vacutainer together with the refrigerated ice packs in the foam box and prepare for shipment. Store the package in the refrigerator until pickup by the parcel service.