What does it mean for me if I have this gene?

As mentioned above, women with a positive family history should be closely monitored and possibly tested. Before deciding on a molecular genetic diagnosis, the pros and cons should be weighed up and the limits of the diagnosis and possible consequences should be considered. It may be helpful to seek psychological counselling.

If you decide to take the test after the reflection period, the family member with breast and/or ovarian cancer is usually examined first. In addition to BRCA-1 and BRCA-2, the examination includes eight other genes and usually takes 6-8 weeks. If no gene mutation can be detected, a hereditary disease can still not be ruled out, as the genes known and tested so far can only explain 35-40% of the family diseases.

If a gene mutation is found, a diagnosis of hereditary breast and ovarian cancer can be made. For the person who has already fallen ill, this means an increased risk of a new cancer. Intensified early detection methods and advice on surgical measures should follow.

In the next steps, it will become clear that the diagnosis of a gene mutation has consequences for the entire family. First-degree relatives have a 50% risk of being mutation carriers as well. If a mutation can be detected in a person who has not yet fallen ill, they have an increased risk of developing cancer.

They should also take part in intensified early detection methods and seek advice on an operative measure. Early detection includes a six-monthly palpation and an ultrasound of the breast as well as an annual magnetic resonance tomography of the breast from the age of 25. From the age of 40, a regular mammography (X-ray examination of the breast) should be carried out.

The possible surgical measures mentioned above include prophylactic removal of the ovaries and fallopian tubes as well as the mammary gland. Removal of the ovaries after completion of family planning (risk-reducing salpingoovrectomy) reduces the risk of ovarian cancer by about 95% and also the risk of breast cancer. Removal of the breast gland reduces the risk of breast cancer by about 90%.

A reconstruction of the breast can be performed. The surgical measures should be discussed in detail with the treating doctor and weighed up. If a person who is not ill and has no genetic mutations in the family does not have an increased risk compared to the general population.

How much does a genetic test cost?

The genetic test costs between 3000-6000 €, depending on the extent. However, if there is a well-founded suspicion, the costs are usually covered by health insurance. In more than 80% of the cases the costs are covered without any problems.

A positive family anamnesis counts as a well-founded suspicion. There are the most different constellations. For example, at least three women in the family must have had breast cancer regardless of age, or at least two women must have had breast cancer if one is under 50, or at least two women must have had ovarian cancer or at least one man must have had breast cancer. It should be remembered that only family members on either the mother’s or the father’s side are mentioned. The recommendations are constantly updated on the basis of studies and should be read when considering a genetic test.