Scientific background

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Breast and ovarian cancer
Common genetic diseases
Complex genetic diagnostics
Bundled tests
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We provide answers to your questions about your possibilities.

„Knowledge of your genetic background helps you plan your future.”

Research, development, and service in one hand

We believe in creating the possibility of a healthier and more conscious life by revealing your genetic background

The identification of genetic risk factors can largely influence your future decisions


About molecular diagnostics in general

At the moment of conception, we inherit 23 chromosomes, that is, a genome of information from both our mother and father. This two sets of 23 chromosomes is present in every somatic cell we have and defines the functioning of our body.

All our characteristics can be traced back to a defined region of our genetic material called gene. Our genes convey the characteristics encoded in them by defining proteins that are responsible for fulfilling specific functions in the cells. But how does our genetic material, the DNA, encode the information concerning the functioning of our body? The answer lies in combination. The genetic code consist of only 4 nucleotides; the order of these determines the program according to which our proteins are built.

Structure of the human genome

Molecular diagnostics analyses the health condition of a patient or the presence of a potential disease at the level of the genetic material or the proteins.

The accumulation of a type of disease in a family indicates that there is a defect in the genetic material, the DNA; these are hereditary diseases. In such cases, each of our cells carries the given genetic alteration. These alterations do not necessarily mean diseases. Predisposition to a type of disease can also be transmitted from parents to children.

Diseases of genetic origin can also develop during the life of an individual if a defect arises in the genetic material or in its regulation in one of the cells. This typically does not exhibit an elevated prevalence in the family; it occurs sporadically in the population. Most of the cancerous diseases belong to this category. There is always one or more mutation, alteration from the ”normal”, in the background of genetic diseases; these are responsible for the development or the course of a disease. If this mutation is detected, a more rational treatment can be applied.

Normal karyotype

Genetic Improvement Using Young Sires With Genomic Evaluations
Bennet Cassell, Professor and Extension Specialist, Dairy Science, Virginia Tech; pages 404-090.

At the beginning of the new millennium, the determination of the nucleotide sequence of the whole human genome and the mapping of the genes from physical and functional aspects opened unprecedented possibilities. The results of the human genome project doubtlessly contributed to the revolutionary changes in medicine that created personalized, targeted therapeutic drugs and the diagnostics that is indispensable for their use.

Diagnostics is essential in health care because it fundamentally defines medical decision making and the direction of the therapy. It plays a key role at several points during medical care. Beginning from the detection of predisposing factors through the early screening of high-risk patients to the prognostication of the disease and its course, choosing the appropriate personalized therapy, or even monitoring recurrence or the efficiency of the therapy. In light of this, it is unquestionable that diagnostics should be targeted and at high resolution, revealing the mechanisms behind the symptoms.

Further information about the analysed genes

Cystic fibrosis

The most common hereditary disease, cystic fibrosis, is caused by defects in the CFTR gene as known since 1989. However, the number of gene variants causing the disease continuously increases as the genetic testing of new patients with different severity of the disease reveals new and new defects in the gene or the protein encoded.

Targeted therapeutic drugs under development for the treatment of cystic fibrosis patients (CF Foundation drug development pipeline)
New and emerging targeted therapies for cystic fibrosis
Bradley S Quon, clinician-scientist1 and Steven M Rowe, director2

These results form the basis of choosing the targeted molecules that can be used for the different variants of this heterogeneous disease.

Cystic fibrosis genetics: from molecular understanding to clinical application.
Cutting GR. Nat Rev Genet. 2015 Jan;16(1):45-56. doi: 10.1038/nrg3849. Epub 2014 Nov 18. Review.

Breast and ovarian cancer

Targeted therapy brought revolutionary changes in the treatment of the most frequent tumorous disease in women as well. With a targeted drug designed to inhibit a biomarker, the HER2 gene, which can be identified in a certain portion of breast cancer patients, the process of tumorigenesis can be hindered effectively, and thus significant improvement can be achieved in the condition these patients.

HER2 in breast cancer: a review and update.
dv Anat Pathol. 2014 Mar;21(2):100-7. doi: 10.1097/PAP.0000000000000015.
Krishnamurti U1, Silverman JF.

A new milestone has been reached recently in the therapy of breast and ovarian cancers. Personalized, targeted tumour therapy was developed for the defects of the BRCA1 and BRCA2 genes that were described more than two decades ago, providing an efficient therapy with mild side effects for ovarian cancer patients. The mode of operation of the recently developed therapy is a good example of cases in which the drug does not affect the defective gene or the protein encoded by it, but cuts the escape route of cancer cells by inhibiting the protein that would ensure their survival after DNA damage. The Poly (ADP-ribose) polymerase (PARP) protein has an enzyme activity that is involved in the repair of DNA damage, just as the BRCA1 and BRCA2 proteins.

Inhibition of Poly(ADP)-Ribose Polymerase as a Therapeutic Strategy for Breast Cancer
Review Article | January 15, 2010 | Oncology Journal, Breast Cancer, Ovarian Cancer, Triple-Negative Breast Cancer
By Elizabeth A. Comen, MD and Mark Robson, MD

It has long been known that in a certain percent of hereditary breast and ovarian cancers the BRCA1 or BRCA2 genes carry a mutation. The mutant copy increases the risk of cancer development because an important DNA repair mechanism of the cell is defective. If a targeted PARP inhibitor blocks the other significant repair system, the cells are not able to repair the damage in their DNA and die. At the same time, the healthy cells that carry the normal copy of the BRCA gene are not damaged.

Olaparib: an oral PARP-1 and PARP-2 inhibitor with promising activity in ovarian cancer.
Gunderson CC, Moore KN.
Future Oncol. 2015;11(5):747-57. doi: 10.2217/fon.14.313. Review.

Colorectal cancer and non-small cell lung cancer

EGFR (Epidermal growth factor receptor) ) is a receptor protein found on the surface of cells. Different small molecules (mainly growth factors) bind to this receptor thus activating it. The activated receptor sends signals into the cell which lead to the activation of genes and, finally, to cell division, cell growth, angiogenesis, and metastasis formation. Several processes can lead to abnormal receptor activation including receptor overproduction, different mutations (mentioned above), and other mechanisms. Abnormal high levels of EGFR can be found on the surface of many types of tumour cells

Currently, the most efficient treatment of colorectal and non-small cell lung cancers targets the so called EGFR signalling pathway via its inhibition. Recently, several EGFR inhibitors have been developed that inhibit signalling pathways, improving the survival rates of cancer patients. These medications bind to the EGFR receptor and inactivate it, thus leading to the inhibition of EGFR signalling and halting cell division, metastasis formation, etc. Therefore, the diagnostics of certain regions of the EGFR gene is essential for the selection of an appropriate, efficient tumour therapy. However, these medications are ineffective if a mutation is present in the K-RAS, NRAS, B-RAF, PIK3CA members of the EGFR signalling pathway.

To assess the efficiency of targeted therapy, it is essential to analyse the KRAS, NRAS, BRAF, and PIK3CA genes, because if these genes contain mutations then the EGFR inhibitor therapy will not affect the tumour cells, but the side effects will remain, further weakening the patient.

Tumour tissues for analysis can only be obtained from surgery, which is extremely stressful for the patient, furthermore, in some cases the condition of the patient does not allow invasive intervention.

Non-invasive genetic diagnostics has become an effervescent research area in the past few years. Employing this technique, the DNA of freely circulating cells derived from tumorous tissues can be analysed. Body fluids such as blood plasma, saliva, or urine may contain the genetic material of cancerous cells at an early stage. Thus, we can obtain genetic information about the tumour with a simple blood draw.

Molecular Markers for the Prediction of Anti-EGFR Monoclonal Antibody Treatment Efficacy in Metastatic Colorectal Cancer
Cheng-Bo Han1*, Jie-Tao Ma1, Fan Li2, Hua-Wei Zou1
Journal of Cancer Therapy
Vol.2 No.5(2011), Article ID:16613,8 pages DOI:10.4236/jct.2011.25090

Cell-free nucleic acids as biomarkers in cancer patients
Nature Reviews Cancer 11, 426-437 (June 2011) | doi:10.1038/nrc3066
Heidi Schwarzenbach1, Dave S. B. Hoon2 & Klaus Pantel1

Non-invasive molecular diagnostics, which will surely revolutionise genetic diagnostic processes in the near future, is also in the centre of focus of our developments. Our in-housedeveloped next-generation sequencing-based kits are suitable for the mutational analysis of the above members of the EGFR pathway from free DNA in the blood plasma.

Blood as a Substitute for Tumor Tissue in Detecting EGFR Mutations for Guiding EGFR TKIs Treatment of Nonsmall Cell Lung Cancer: A Systematic Review and Meta-Analysis.
Mao C1, Yuan JQ, Yang ZY, Fu XH, Wu XY, Tang JL.
PMID: 26020382 PMCID: PMC4616411 DOI: 10.1097/MD.0000000000000775

About the methods we use

Reading the order of the nucleotides (the sequence) that constitute the DNA is called DNA sequencing or simply sequencing. This can be achieved using several methods, but the first step is always the extraction of the DNA from the cells that carry it. For the analysis of hereditary diseases, this can be performed using white blood cells in the blood or scrapes from the oral mucosa that can be obtained painlessly. For personalised, targeted cancer diagnostics, DNA has to be extracted directly from tumour cells obtained during routine biopsy of the tumour.

After DNA isolation, we select the appropriate method for reading the sequence according to the type of test. In cases of already known hereditary alterations, capillary or Sanger sequencing is used, which enables the single economical reading of 700-1000-nucleotide-long sequences.

Sanger sequencing

The capillary sequenator identifies the nucleotides in a given DNA sequence, by detecting 4 different types of color in the sequencing reaction.

If reading the whole gene (e.g. BRCA1) is necessary, or the healthy and tumorous cells are mixed in the tumour samples, we employ the spectacularly developing sequencing technology of the past decade, next-generation sequencing, which - though capable of reading only 100-300-nucleotidelong sequences – can provide information from as many as 10 million different regions simultaneously during one test. At present, this is the most up-to-date method in molecular genetics; we provide internationally state-of-the-art technological developments.

Next-generation sequencing

Next Generation Sequencers are able identify the nucleotide sequence of individual DNA molecules in a given sample, therefore several thousands of similar reads are the output of an NGS sequencing reaction.

Using both sequencing methods, we determine whether there is any alteration from the average human DNA sequence that could be responsible for a given disease or could hinder certain tumour therapies. To achieve this, besides employing databases of genetic alterations, we refer to scientific literature in each case, ensuring that our customers receive up-to-date information.

Illumina NextSeq 500 sequencer

The NextSeq 500 platform is suitable for somewhat larger scale sequencing. Maximum 400 million reads, 120 GB can be obtained from a single read with 150 bp read lengths per read. Such large amounts of data are generated by whole exomes and transcriptomes, but whole genomes or even a whole human genome can be sequenced in one such run.

Illumina MiniSeq sequencer

The maximum capacity of the Illumina MiniSeq platform is 8 Gb per run; 25 million reads can be obtained from a single run; and the maximum length of the reads is 150 bp. It is an ideal choice for targeted DNA and RNA sequencing and for the analysis of genes and signalling pathways. It is an excellent choice for small-scale sequencing projects due to its relatively economical operating costs.

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