Prof. Dr. Eitan Friedman is the head and founder of the "Susan Levy-Gertner" Department of Oncogenetics. He graduated from the Sackler School of Medicine at Tel Aviv University and received his doctorate from the Karolinska Institute, Sweden.
Prof. Dr. Friedman is today a famous scientist and doctor in Israel. He has been active in scientific activity for more than 20 years, revealing the predisposition to unlocking an oncological disease laid by genetics.
The Oncogenetic Department under the leadership of Prof. Friedman conducts genetic research in patients with a family history of cancer. Focus is on breast and ovarian cancer, but also conducts genetic screening for all types of cancer.
His main professional interests are in the field of hereditary predisposition to cancer, population genetics, molecular mechanisms of stress damage.
Prof. Friedman, let's start with something more general - what science is oncogenetics?
- The starting point of oncogenetics is that oncology and genetics are closely related. This fact has two aspects. First, if we compare the genetic information in the cancerous tissue with the genetic information in the he althy tissue, we will always find changes in the genetic blueprint of the cancerous tissue.
At first glance, the conclusion is forced: such changes are necessarily inherited. But, that's not the case. Despite the fact that all oncological diseases are genetically determined, these genetic changes that occur in the affected tissues can remain there without being transmitted further.
And what does this mean for the patient?
- Having such information about a particular case of cancer, we can select treatment, drugs, create an optimal program for the person, direct the treatment to fight these genetic changes, while at the same time minimizing the side effects.
From this aspect, every cancer has a genetic side and it can be used to benefit the patient.
This is the first aspect. And the second one?
- The other aspect of genetics in oncology is the concentration of multiple cases of disease in the same family. Such people are not often found (5-15% of cases of all diseases).
Of these, there are rarer cases (up to 5%) when many family members have been ill for several generations. In such situations, we can trace the inherited genetic mutation. Today there are about a hundred such inherited genes, and we are familiar with the vast majority of them that are directly related to this process.
Therefore, a small amount of each person's genetic material is sufficient to check whether these mutations occur in their genetic code and thus determine the chances of a certain hereditary disease occurring.
Is this risk specific?
- Absolutely. It can be converted to numbers very clearly. For example, each woman has a 13% chance of developing breast cancer and a 1.5% chance of ovarian cancer. In a woman with a BRCA1 genetic mutation, the chance of developing breast cancer increases to 80%, and ovarian cancer to 50%.
Prof. Dr. Eitan Friedman
This turn of events will shock any woman. What do the doctors recommend in this case?
- What Angelina Jolie did, thanks to which this practice became known to the general public. If a mutated gene is found, a woman must begin a strict diagnostic regimen from the age of 25: regular mammograms, and after reaching the age of 40, have her mammary glands, ovaries and fallopian tubes removed.
Is this gene unique?
- No, the BRCA gene is just one example, and we know of more than a hundred. In some cases, carriers have a 100% chance of developing cancer at least once in their lifetime.
At the time of detection of the mutation, a person is he althy, but with such information, it is possible to take all kinds of preventive measures and completely prevent cancer in the future. One method may be to remove the organ that is most at risk.
Many people whose relatives are sick fear that they themselves have bad heredity. Can oncogenetics help dispel these fears?
- Yes, and this is exactly what the great discovery in this field is all about! A person who has had at least one sick relative can be tested for a genetic predisposition. This will allow him to know whether he is in the high-risk group, (which requires special vigilance) or not.
Such a diagnosis is also important to find out if the mutation will be passed on to the person's children. Such awareness will allow many people to breathe a sigh of relief and live without fear.
And since when has this information been known to modern medicine?
- Oncogenetics has been actively developing for the past 20 years, but the breakthrough came in the last five years as such tests became more accessible to the general public.
How do you see the further development of oncogenetics?
- I believe that soon every child, while still in the maternity hospital, will undergo a genetic examination for a variety of diseases. With the help of a small sample of his DNA, it will be possible to determine what diseases threaten a person, and the vast majority of them can be prevented.
I emphasize thickly: the knowledge will not be given to tell the person: "At 25 you will die of a cerebral hemorrhage".
It will be used to carry out active prevention and build the life of the given person in such a way that he can defeat any hereditary disease. Such crucial information can influence the choice of profession, lifestyle (for example, playing sports as a way to prevent osteoporosis).
Thus, medicine will increasingly focus on the prevention of diseases, including cancer. I.e. cancer can be defeated using DNA
How do we know if our cancer is hereditary or not?
- If a person has had one first-line relative (mother, father, brother, sister) who has had cancer, their chances of getting the disease are already twice as high as those who have not cases in the family. But that doesn't mean cancer is hereditary.
Medicine has the ability to detect and test the genetic change responsible for the appearance of cancer and thus determine whether it is hereditary or not.
But, in general, it is important to consider the following: the more relatives there are in the family with cancer, the closer the degree of consanguinity and the younger the disease developed, the greater the person's chances of getting sick.
And what can be done in this case? How are such tests conducted?
- In addition to DNA information, it is very important to provide documents about diseases in the family: who was sick, when, what type of cancer, at what age, degree of consanguinity. Despite the fact that this information is not always available, it greatly increases the accuracy of hereditary cancer results.
From what age can such tests and measures be taken?
- In the case of multiple endocrine neoplasia type I, also known as Vermeer syndrome - a hereditary form of thyroid cancer, a genetic test can be done as early as 5 years of age. If a mutation is found, removal of the endocrine glands is recommended, which is also possible from the age of five.
This is desirable, because with cancer in such cases it manifests itself in a form that is not amenable to conventional treatment, so the best option is to prevent the development of the disease as early as possible.
Does nationality affect this data? In fact, the much talked about BRCA1 and BRCA2 gene mutation is considered characteristic of Ashkenazi Jews…
- It doesn't matter what nationality a person is: Jewish, Bulgarian, Russian - everyone has genetics and it works according to similar rules. BRCA1 and BRCA2 have over 4,000 forms and all are known to science. Ashkenazi Jews, for example, have three repeating forms. Slavic women are characterized by other recurrent forms of mutation.
All this information is available to us and known. And even if there is a mutation that is not characteristic of the given ethnic group or the particular woman, nothing prevents us from checking all 4000 species without increasing the cost of the research.
Can oncogenetics become the basis for the complete cure of humanity from cancer in the future?
- Definitely, yes. And this is not an impossible task and it is not science fiction, but rather real scientific progress. It may take more time - 5 or 10 years, it is not possible to say how much for sure. But this is the path that science follows and the future lies in it.