These tests exist | BRCA mutation

These tests exist

A genetic test is performed in the laboratory, in which a blood sample is examined for mutations in the BRCA1 and BRCA2 genes. A genetic test is a molecular biological examination in which the genetic material is analysed. For women who are considered to have a family history of breast and/or ovarian cancer, the costs of this genetic test are usually covered by health insurance.

The tests provide reliable results, but the evaluation of the test results is often not easy. In addition to the mutations that significantly increase a patient’s risk of developing breast or ovarian cancer, there are also neutral changes in the BRCA genes. Although these are also mutations, they have no effect on the cancer risk.

It is not always easy to differentiate between disease-relevant and neutral changes, which is why not every finding can be assessed with absolute certainty. Women who have a family history of cancer should be tested for a mutation in the BRCA genes. This includes persons who come from a high-risk family.

There are certain criteria that must be met. You will find these in our article: Genetic testing For example, at least three cases of breast cancer within the family, at least two women with breast cancer before the age of 51, at least one man with breast cancer or at least two women with ovarian cancer. A genetic test is only carried out after the age of 18, as cancer almost never occurs in very young women.

What is the treatment of a BRCA mutation?

Women who have been diagnosed with a mutation in BRCA1 or BRCA2 should definitely talk to their doctor about their risk of breast and ovarian cancer and possible prophylactic treatment. However, a positive genetic test does not mean that you already have cancer, nor does it mean that you will necessarily get it. Existing mutations in the BRCA genes can only indicate that the disease risk for breast and ovarian cancer is significantly increased over the entire lifetime compared to persons without mutation.

A BRCA mutation cannot be treated per se. However, women with positive results should participate in an intensified early detection programme. In this programme, the doctor carries out regular preventive medical check-ups in order to detect possible breast or ovarian cancer as early as possible.

Cancer that is diagnosed and treated at a very early stage has a very good chance of recovery. The early detection programme includes a six-monthly palpation and an ultrasound examination of the mammary glands. In addition, a mammography is carried out annually from the age of 30.

Alternatively, there is also the possibility of a preventive operation, in which both breasts, the ovaries and fallopian tubes are removed as a preventive measure. This operation is a very radical measure which must be thoroughly considered. Affected women have the opportunity to discuss this decision in detail with a team of experienced gynaecologists and human geneticists.

Psychological support is also part of the treatment, as the situation represents an enormous psychological burden for many patients. After a breast removal there are a number of possibilities to reconstruct the removed breasts as realistically as possible. You can read more information on this topic: Therapy for breast cancer