Adjuvant Therapy  

in a non metastatic situation, after the primary tumor is removed usually a chemotherapy will be started


Antibodies are proteins with very specifiy binding properties, produced by the body to recognize patogenes or other foreign surface molecules. Antibodies attach to them and immune cells are eliminating/destroying these binding complexes.


An antigene is the area/molecule where the antibody specifically binds to. I.E. Receptor molecules in the membrane of cells are very often binding targets for antibodies.


Aromatase inhibitor  

Aromatase inhibitors stop the production of estrogen in postmenopausal women. Aromatase inhibitors work by blocking the enzyme aromatase, which turns the hormone androgen into small amounts of estrogen in the body. This means that less estrogen is available to stimulate the growth of hormone-receptor-positive breast cancer cells.




A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist involving sampling of cells or tissues for examination. It is the medical removal of tissue from a living subject to determine the presence or extent of a disease. The tissue is generally examined under a microscope by a pathologist, and can also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. When only a sample of tissue is removed with preservation of the histological architecture of the tissue’s cells, the procedure is called an incisional biopsy or core biopsy. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a needle aspiration biopsy. Biopsies are most commonly performed for insight into possible cancerous and inflammatory conditions.


CAG / CTG /CGG                             


There are genetic disorders which are resembled by too many repeats of a certain trinucleotid (like CAG = Chorea Huntington; CTG=Myotonic Dystrophy 1; CGG = Fragile X) Syndrome...). These repeat extentions can lead to severe medical symptoms like i.e. mental retardation.


Capillary Electrophoresis  

Capillary electrophoresis (CE) is a family of electrokinetic separation methods performed in submillimeter diameter capillaries and in micro- and nanofluidic channels. Very often, CE refers to capillary zone electrophoresis (CZE), but other electrophoretic techniques including capillary gel electrophoresis (CGE), capillary isoelectric focusing (CIEF), capillary isotachophoresis and micellar electrokinetic chromatography (MEKC) belong also to this class of methods. In CE methods, analytes migrate through electrolyte solutions under the influence of an electric field. Analytes can be separated according to ionic mobility and/or partitioning into an alternate phase via Non-covalent interactions. Additionally, analytes may be concentrated or "focused" by means of gradients in conductivity and pH.


cellfree DNA (cfDNA)  

This are short pieces of DNA fragments floating freely in the blood stream. They are debris from of dead cells. These fragments can be sequenced and used i.e. for mutation detection.



Circulating (epithelial) tumor cells. These are cells released from a solid tumor. They are very stable even for many years. A small fraction of them (depending on the tumar and its agressiveness) can have stem cell character to form new metastasis. In many cases CTCs can be measured even years after a cancer disease occured.


EpCAM Antibody  

EpCAM = Epithelial Cell Adhesion Molecule Antibody. This molecule is the most common molecule on epithelial cells. Carcinomas are of epithelial origin and have this antigene on their surface. EpCAM is therefore the only marker to quantify tumor cells in the blood stream. In a healthy human there are no epithelial cells in the blood.



 Fragile X mental retardation gene 1. In this gene on the X-chromosome there is an unusall large number of repeats of the CGG nucleotid leading to mental retardation.


Fragile X Syndrome  

Fragile X syndrome is the most common form of inherited mental retardation in males and is also a significant cause of mental retardation in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.

Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is expanded. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times. The abnormally expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called fragile X mental retardation protein. Loss of this protein leads to the signs and symptoms of fragile X syndrome. Both boys and girls can be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely.


Her2/Neu     Her2/neu (human epidermal growth factor receptor 2, erb-B2, c-erbB2) gehört zur Familie der epidermalen Wachstumsfaktorrezeptoren (EGF-Rezeptor). HER2/neu stimuliert die Zellproliferation über den RAS-MAP-Kinase-Weg und hemmt den programmierten Zelltod (Apoptose) über den mTOR-Signalweg.

Her2/neu spielt eine wichtige Rolle in der Behandlung und Diagnostik des Mammakarzinoms (Brustkrebses). In etwa 20 % aller invasiven Mammakarzinome ist der Rezeptor stark überexprimiert. Damit ist seine Wirkung vervielfacht, was sich in einer schlechten Überlebensprognose, beziehungsweise einem vergleichsweise schlechteren Krankheitsverlauf, äußert. Ob der Krankheitsverlauf durch eine Her2/neu-Überexpression beeinflusst ist, kann mittels immunhistochemischer Methoden nachgewiesen werden. Die Feststellung der nachgewiesenen Überexpression wird mit „HER2-positiv“ bezeichnet.


Hormone Therapy  

 Hormonal therapy in oncology is hormone therapy for cancer and is one of the major modalities of medical oncology (pharmacotherapy for cancer), others being cytotoxic chemotherapy and targeted therapy (biotherapeutics). It involves the manipulation of the endocrine system through exogenous administration of specific hormones, particularly steroid hormones, or drugs which inhibit the production or activity of such hormones (hormone antagonists). Because steroid hormones are powerful drivers of gene expression in certain cancer cells, changing the levels or activity of certain hormones can cause certain cancers to cease growing, or even undergo cell death. Surgical removal of endocrine organs, such as orchiectomy and oophorectomy can also be employed as a form of hormonal therapy.


Liquid Biopsy  

Liquid Biopsy is a method to diagnose tumor cells or tumor DNA in blood.



Please see this explanation.


Metastatic situation  

This means the original, primary tumor released cell into the blood stream which by now already formed new metastasis. In this situation doctors are usually free in treating the patient with whatever means since their is no real guideline available. 


Neo-Adjuvant   Neoadjuvant therapy is the administration of therapeutic agents before a main treatment. One example is neoadjuvant hormone therapy prior to radical radiotherapy for adenocarcinoma of the prostate. Neoadjuvant therapy aims to reduce the size or extent of the cancer before using radical treatment intervention, thus making procedures easier and more likely to succeed, and reducing the consequences of a more extensive treatment technique that would be required if the tumor wasn't reduced in size or extent.

Another related concept is that neoadjuvant therapy acts on micrometastatic disease. The downstaging is then a surrogate marker of efficacy on undetected dissemination, resulting in improved longtime survival compared to the surgery-alone strategy.

This systemic therapy (chemotherapy, immunotherapy or hormone therapy) or radiation therapy is commonly used in cancers that are locally advanced - where clinicians plan an operation at a later stage. The use of such therapy can effectively reduce the difficulty and morbidity of more extensive procedures.

The use of therapy can turn a tumour from untreatable to treatable by shrinking the volume. Often it can be unclear which surrounding structures are directly involved in the disease and which are just showing signs of inflammation. By administering therapy a distinction can often be made. Some doctors give the therapy in the hope that a response will be seen so that they can then decide what is the best course of action. Unfortunately, not everyone is suitable for therapy in this way because it can be extremely toxic. Some patients react so severely that further treatments, especially surgery, are precluded because the patient is rendered unfit for anesthetic.



non-invasive prenatal testing diagnosis. Method to determine chromosomal anomalies by "simple" counting of DNA fragments. Partly combined with targeted DNA-sequencing methods. 



 Nucleotide repeat extensions in this gene lead to myotonic musle distrophy 1.


Prenatal Diagnostics  

Prenatal diagnosis or prenatal screening (note that prenatal diagnosis and prenatal screening refer to two different types of tests) is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome. Screening can also be used for prenatal sex discernment. Common testing procedures include amniocentesis, ultrasonography including nuchal translucency ultrasound, serum marker testing, or genetic screening. In some cases, the tests are administered to determine if the fetus will be aborted, though physicians and patients also find it useful to diagnose high-risk pregnancies early so that delivery can be scheduled in a tertiary care hospital where the baby can receive appropriate care.


point of care testing


Point-of-care testing (POCT), or bedside testing is defined as medical diagnostic testing at or near the point of care—that is, at the time and place of patient care. This contrasts with the historical pattern in which testing was wholly or mostly confined to the medical laboratory, which entailed sending off specimens away from the point of care and then waiting hours or days to learn the results, during which time care must continue without the desired information.


southern blot analyse  

A Southern blot is a method used in molecular biology for detection of a specific DNA sequence in DNA samples. Southern blotting combines transfer of electrophoresis-separated DNA fragments to a filter membrane and subsequent fragment detection by probe hybridization.


Tamoxifen therapy  

Tamoxifen is a hormone therapy for breast cancer in both women and men. It lowers the risk of early breast cancer coming back (recurring) after surgery or developing in the other breast. It can also control advanced breast cancer for some time.


1st Trimester screening   The First Trimester Screen is a new, optional non-invasive evaluation that combines a maternal blood screening test with an ultrasound evaluation of the fetus to identify risk for specific chromosomal abnormalities, including Down Syndrome Trisomy-21 and Trisomy-18.