When genetic testing does not help, the cancer risk assess – and when to

But no! For heaven’s sake!” The woman doctor left no doubt as to their attitude than that the patient asked you, if you should now, after the third child, better the ovaries remove. As a precaution. Two aunts were there, died of ovarian cancer, both under 50. The grandmother had hit it. Finally, the own mother. This time it was breast cancer. Do not need to come up with such a family history, the thought of it could make one yourself? It is not necessary to make provisions? “I would have liked, my gynecologist had advised me at the time, which is a hereditary risk in my family to pursue,” says the patient today, who wishes to remain mainly because of possible disadvantages for their children prefer to be anonymous.

Meanwhile, the woman knows that she has a Gene that increases the probability significantly, breast or of developing ovarian cancer. You could give this disposition, even to their children and grandchildren.

Personal cancer risk to assess

Despite the impressive progress made by medicine in its diagnosis and treatment, cancer is, for most people, still a scare word. Therefore, many wish that they could find out your personal risk of cancer. Could be, the hope, the disease master is possibly, maybe even prevent it, or at least at an early stage to treat.

The expectations were big, as a scientist, in 1990, met for the first time on a Gene that is causally related with breast cancer. BRCA1 it is, until today – after the English name for cancer of the breast (BReast CAncer 1). In the meantime, has discovered a number of other “breast cancer genes”, even if not all of the increase the risk for a disease.

For other types of cancer already genetic factors can be examined for the colon cancer. Strictly speaking, it’s not the genes themselves, the people make you sick, but changes in these genes, called mutations. Together with other factors, trigger the Tumor. “Cancer is a complex disease of the genome in the tumor cells,” says human geneticist and Heidelberg and Professor Peter Lichter from the German cancer research center (DKFZ). This genetically is not synonymous with “hereditary”. Because not every Mutation occurs in the genetic material of sperm and egg. If, for example, from a skin cell, a tumor cell, this genetic modification not the same hereditary. Other dangerous mutations occur in all cells, including the germline, in the reproductive cells. Only a genetic test can clarify whether this is the case. And then? What do I do with this result? What Benefit it has, to the knowledge of a genetically increased risk of cancer?

About 70,000 women are diagnosed in Germany each year from breast cancer. Most, however, are so-called spontaneous, so random or induced mutations. These are genetic changes that occur due to environmental effects or risky habits such as Smoking and a Tumor-can cause disease. In the case of breast cancer, heredity plays only five to ten percent of the cases. Then the risk of cancer may be increased for the next generations. Not so in the case of spontaneous or induced mutations. In these cases, the offspring are not affected, must therefore not be tested. And if you want it anyway?

The test result can be psychologically straining

Peter lights to warn of providers on the Internet for a few Hundred Euro on the promise that the cancer risk of people. “It is often investigated genes in which a change affects only a minimal effect on the risk of cancer. Such Tests are only good for the companies that offer them, but for no one else.”

There are a few simple rules, on the basis of which you can check, whether – always with expert advice related Test is useful. These criteria apply regardless of the type of cancer, such as lights explained: “A first question is whether or not a particular cancer has occurred in two consecutive generations of the family.” That would be a clear indication. Another is an early cancer that would be more likely in older age. “If a woman becomes ill in the twenties of breast cancer, then it is worth genetically closer look.” Finally, if cancer suggests at the same time in pairs of the existing organs like the female breast or the kidney occurs, it also points to a hereditary genetic predisposition.

Not all of the risk system developing

Who can test it, hoping sometimes to be able to the topic of breast or ovarian cancer after a negative reaction to a Once and for all from the head. To not have any risky asset in the genome is not a guarantee, to be against this particular cancer is immune. Conversely, not all are sick, carry a risk investment, such as BRCA1 or BRCA2 genes in the genome. A genetic test can dispel the uncertainty, never entirely. Why bother with the test? Because in the case of a diagnosed predisposition regular checkups are called for. Through which a potential cancer can be detected the disease at an early stage and treated better than in a late stage, when the cancer may have spread already. “People usually die from the metastases and not the primary tumor,” says Lichter.

And even if the cancer is already far advanced and if standard therapies do not strike, geneticists, such as the DKFZ on an accurate molecular typing. “Precision Oncology” or “personalized medicine”. Behind it is the attempt of a therapy to a specific Tumor and a specific people to cut and to look in the genome to the vulnerabilities of the tumor and new approaches to treatment. This is because not only each person is unique, each Tumor. “Such molecular studies are of course still in its infancy,” admits Peter lights. “But there are already patients who could be helped in this way to additional and also more livable.”

Test can help in choice of therapy

A genetic test can be useful if the cancer is already broke out, also underlines Andrea Hahne from the BRCA network, a self-help club circles, with now around 30 all over the country scattered Conversation. “It has been done in the past years very much. Today, there are also Tests that can help in the selection of a treatment method.” There is the question of whether the breast cancer, after surgery, to chemotherapy, can be dispensed with. Using genetic markers in the tumor tissue is to be examined whether or not a particular cancer drug is suitable for a patient. Genetic testing should also help clarify further the prevention of fits. “All of this does not make the necessary decisions during the disease, however, is easier,” says Andrea Hahne, “while often great hopes are linked to new procedures.”

About the pros and cons of genetic testing, the German consortium for familial breast and ovarian cancer advises, for example. And also self-help networks, such as the of Andrea Hahne Affected contact, if you are unsure of what of offered ways you choose. “The enthusiasm for research and for new therapeutic approaches is great,” says Hahne. “But we must also accept that the cancer medicine can not much know yet, and therefore not, in any case, the healing promise.”

Tests often lead to psychological stress

This is also a reason why such a Test on the most important cancer genes can not only clarity about the own plants, but in many cases, mental stress. Not only for yourself. What about the children, if the mother was tested positive? The need to be better, then, to the Test? But parents, before going to missionary, discourages the young. And what is even more distant Relatives, with Cousins, aunts and uncles, who could also be carriers of a risk gene? You should inform you? To Test push? And you have to make self-reproach, when, in many cases, the extrusion of the Pension is to be preferred? Finally: What if the employer or insurance companies learn of a positive Test?

There are many, often probing questions, coming up with a Test for a hereditary risk of cancer to a are. The right answers, so the experience of Andrea Hahne, find the most not alone. “Numbers and test results further help. But to look beyond that in a good interview answers should never come too short.”