A number of genes can increase the risk of breast cancer if they are altered (mutated). A genetic test examines DNA for these mutations. The most common mutations are in breast cancer gene 1 (BRCA1) and 2 (BRCA2).

Genetic testing is always preceded by a comprehensive consultation, which takes into account any existing family history of cancer and calculates the risk. If genetic analysis is requested, a blood sample is tested in a laboratory for genetic mutations.  

If a specific mutation linked to breast cancer is identified, this does not mean that breast cancer will definitely develop. However, it increases the risk over a lifetime. Other risk factors also contribute to the risk of breast cancer. 

Genetic testing detects specific genetic mutations that may increase the risk of breast cancer.

The findings can help you decide whether you should take further steps in early detection or prevention, such as:

• Additional breast imaging beyond the routine screening mammograms  
• Lifestyle changes
• Risk-reducing removal of breast tissue 

Who is genetic testing suitable for? 

We offer genetic counselling to anyone who is interested, but we generally focus on individuals with a significantly increased risk. Several factors point to a genetic predisposition. These include:

• A known mutation in a high-risk gene (such as BRCA1 or BRCA2) in the family.  
• Relatives with breast cancer such as triple-negative breast cancer, a breast cancer diagnosis before the age of 40, combined breast and ovarian cancer, or male relatives with breast cancer.  
• Certain ethnic backgrounds, such as people of Ashkenazi Jewish descent.
• Individuals diagnosed with breast cancer themselves under the age of 50, or men with breast cancer.

If you or your family are concerned about a risk of breast cancer based on your family history, talk to your doctor. You can also book a genetic counselling appointment directly with Affidea brustCare. 

Genetic testing when breast cancer is already diagnosed   

If breast cancer has been diagnosed and certain risk factors are present, genetic testing can help to:

• determine whether the cancer is hereditary
• determine whether the patient could benefit from targeted therapies such as PARP inhibitors
• decide whether the unaffected breast should be removed (secondary prophylactic mastectomy)   

Genomic testing – what is the difference? 

If breast cancer is already present, genomic testing may also be carried out, which differs from genetic testing of DNA. In genomic testing, the doctor takes a sample from the tumour and analyses the gene activity in the tumour tissue itself. These genes may differ from the genes in the DNA. The results provide information about the prognosis and which further treatments could be beneficial.  

The cost of genetic testing depends on the following factors, among others:

• Whether genetic counselling or testing has already been conducted
• Whether it is prescribed by a doctor 

Costs of genetic counselling 

If you have a family history of breast cancer and your doctor refers you to Affidea brustCare for genetic counselling, the costs are usually covered by basic insurance.  

If you wish to seek genetic counselling directly without a referral from your doctor, it is advisable to clarify with your health insurance provider beforehand whether the counselling service will be covered. 

Costs of genetic analysis 

The cost of genetic analysis depends on the recommendation following genetic counselling and risk assessment.  

• If a genetic mutation is present in the family, a targeted genetic analysis can be performed to search for this mutation in other family members. This is faster and more cost-effective.
• If there is no known mutation in your family, a complete genetic analysis will be performed, which is somewhat more expensive and takes longer.

Depending on your personal situation and the referral pathway, insurance cover may vary. It is best to speak to your doctor and your health insurance provider in advance. If there is any uncertainty, the doctor will issue a letter of guarantee.   

Genetic counselling is always the first step. You will meet with a doctor specialising in genetics to discuss your health and family medical history.  

If necessary, a genetic analysis will then be carried out. Your genetic material (DNA) is tested for genes associated with breast cancer. 

Before your consultation 

Your consultant will ask you to fill out a family tree with all known cancer diagnoses in your family. This will help you and your doctor during the consultation.  

If possible, you should specify the type of cancer and the relative’s age at the time of their diagnosis. It may be helpful to do this with a family member or someone you trust.   

During the consultation 

Your doctor will ask you about your general health, lifestyle and family medical history.

Your doctor will guide you through the consultation and discuss findings with you. This gives us the opportunity to get to know you, offer you support and guidance, and ensure that you feel as comfortable as possible during and after your appointment. 

Next steps after the consultation 

If the consultant suspects that you have a genetic predisposition to breast cancer, they will recommend genetic analysis.  

They will explain what genetic analysis involves and the possible next steps for you and your family. This ensures that you are well informed before making a decision. The decision to conduct an analysis is entirely up to you. 

Genetic analysis 

If you agree to genetic analysis, a blood sample will be taken from you. This is then sent to a specialist genetics laboratory for analysis, which can take up to four weeks. If there is a known mutation in your family, this process may be significantly quicker. The results will be discussed at a follow-up consultation.