Genetic breast testing

Breast genetic testing enables the assessment of hereditary risk for the development of breast cancer by analyzing genes associated with an increased incidence of malignant diseases, primarily BRCA1 and BRCA2, but also other relevant genes according to indication.

The testing is intended for individuals with an increased family or personal risk, as well as for those who want to plan preventive measures and monitoring in a timely manner.

What is breast genetic testing?

It is a laboratory analysis of DNA from a blood or saliva sample, used to determine whether there is a pathogenic mutation in genes associated with the development of breast cancer (and other cancers).

The best known are BRCA1 and BRCA2, but depending on the clinical picture, a broader gene panel may also be analyzed.

When is breast genetic testing recommended?

Genetic testing is recommended if there is:

• breast cancer at a younger age
• multiple cases of breast or ovarian cancer in the family
• breast cancer in a male family member
• a combination of breast and ovarian cancer in the family
• a known BRCA mutation in the family
• a personal wish to assess genetic risk with counseling

Which genes do we analyze?

The most commonly tested are:

• BRCA1
• BRCA2

Depending on the indication, expanded testing is possible, including other genes associated with breast cancer (e.g. PALB2, CHEK2, ATM, etc.).

What does a positive or negative result mean?

Positive result (mutation present):

• increased lifetime risk of breast cancer
• need for enhanced surveillance and a preventive program
• individual monitoring plan (breast MRI, earlier screening)

Negative result (mutation not found):

• does not completely rule out the possibility of cancer
• risk is assessed according to general guidelines and family history

What does the genetic testing procedure look like?

1. Pre-test counseling
2. Blood or saliva sampling
3. Laboratory genetic analysis
4. Interpretation of results and recommendations for further monitoring

The testing is simple, safe, and does not require special preparation.

Advantages of breast genetic testing

• early identification of increased risk
• personalized monitoring plan
• possibility of preventive measures
• informed health decisions
• greater security and control

Book an appointment for breast genetic testing.

If you want to find out whether you have a hereditary risk of breast cancer, genetic testing is an important first step.