How can the diagnosis be made?
The diagnosis of a BRCA mutation is made by means of a genetic test in which the two genes are examined by means of genetic diagnostics. A genetic test only makes sense if a hereditary predisposition due to a family history of breast or ovarian cancer is probable in individuals. A blood sample is taken from the test person, from which the DNA, i.e. the genetic material, is extracted.
The actual examination is carried out by means of gene sequencing. This involves the complete sequencing of certain gene segments in which the mutations may be located. This means that the individual DNA building blocks are decoded and examined. Due to the complex investigation technique, it can take up to four months until the final test result is available.
What is the prognosis?
The prognosis for women carrying a BRCA1 or BRCA2 mutation depends largely on the treatment initiated. Regular check-ups as part of an early detection programme significantly improve the prognosis, as possible tumours can be detected very early and treated well. The actual prognosis of breast cancer is not worse for women with BRCA mutation than for other patients with non-hered breast cancer.
Causes for a BRCA mutation
Mutations constantly occur in our body cells, but they are usually quickly repaired by special mechanisms and therefore have no consequences for the organism. A variety of external influences can trigger mutations and disrupt the function of a gene. The triggering factors are called mutagens.
These possible causes include high-energy radiation (e.g. X-ray or UV radiation), various chemicals (e.g. nitrosamines and polycyclic aromatic hydrocarbons). In retrospect, however, it is difficult or impossible to identify a specific cause of the mutation.
Special mutagens, which are mainly responsible for mutations in the BRCA genes, are not yet known. In most cases, mutations in the BRCA genes occur simply by chance anyway (so-called spontaneous gene mutations). Here, errors occur during DNA duplication during cell division, which causes the gene to be altered. As a result, cell growth problems can occur, which increases the risk of developing a malignant tumour in the further course of the disease.
Psyche with BRCA mutation
The suspicion of the presence of a BRCA mutation or a positive genetic test represents a considerable psychological burden for patients, which should not be underestimated. For this reason, many clinics where the genetic analysis is carried out offer detailed counselling sessions, including a discussion with a psychologist. The decision whether the breasts and ovaries should be removed as a precautionary measure before a tumour can develop is also a psychological challenge and requires a special psychological examination in addition to the thorough consultation.
Studies have shown that mental illnesses, such as depression or extreme stress, are risk factors for breast cancer and can promote tumour development. For this reason, it is particularly important that genetically pre-stressed women receive appropriate psychological support in order to strengthen their positive attitude towards life and their psychological well-being. This topic could be helpful for you: Postoperative depression
