In Hungary, approximately 8,000 women and 200 men are diagnosed with breast cancer each year, and every tenth Hungarian woman will encounter this disease in her lifetime. 10-15% of breast and ovarian cancer is hereditary, often with a familial clustering. If there has been no such disease in the family, but the patient develops the cancer before the age of 50, there is a higher chance of a hereditary BRCA mutation.

The BRCA1 and BRCA2 genes are responsible for correcting errors in the genetic material of cells. If an inherited mutation in these genes is detected in someone, their body may be more likely to develop certain types of cancer – especially breast and ovarian cancer. Mutations in the different cancer-prone genes can increase the risk of breast cancer as well as other cancers (e.g. ovarian cancer, prostate cancer). 

BRCA testing allows us to identify these hereditary risks. This can be especially important if there has been a family history of cancer for several generations or if the diagnosis was made at a relatively young age.

Genes analyzed in the gene panel test:

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCM, MLH1, MRE11A, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMARCA4, STK11, TP53, XRCC2

It is important to know that although we call it a BRCA test, mutations in the BRCA1 and BRCA2 genes only cause about 25% of hereditary cases, so it is reasonable to also test for other breast cancer susceptibility genes known to medical science. This 25-gene panel aims to screen all possible genes at once, so that the mutation can be identified with a high probability, if present, and ruled out if not present in the person being tested.

What is worth knowing about BRCA gene testing?

The BRCA1 and BRCA2 genes play a key role in repairing DNA damage in cells. If these genes have an inherited defect, called a mutation, the risk of developing certain cancers can be significantly increased in affected individuals. In particular, in the case of breast and ovarian cancer, it is known that damage to the BRCA genes dramatically increases the risk of the disease.

Why is BRCA testing important?

BRCA testing is a modern genetic screening that helps to reveal whether a given person has an inherited predisposition to developing the aforementioned types of tumors. So, whether they need to pay more attention than average to cancer screening and prevention.

In the case of an existing disease, we obtain extremely useful results by performing the full 25-gene test:

•  On the one hand, the surgeon can plan the operation more accurately if she has this information;(nőnemű)
• on the other hand, in the case of a BRCA mutation, special targeted therapy drugs (PARP inhibitors) may be considered, which will assist the oncologist's work;
• Thirdly, it becomes clear whether there is a hereditary predisposing mutation in the family (e.g. in children, siblings), which the geneticist can help you navigate.

What does a positive or negative result mean?

• Positive result: The patient has inherited a mutation, which increases her risk of developing breast or ovarian cancer. This information allows for closer monitoring, targeted screening, and even preventive medical interventions (e.g., risk-reducing surgeries).
• Negative result: No known cancer-causing mutation can be detected, which significantly reduces the individual risk, however, it is important to keep in mind that the majority of tumors are not hereditary, so regular screening tests and a healthy lifestyle remain important.
• Variant of unknown significance: In this case, a rare gene variant is identified, the effects of which are not yet sufficiently scientifically known to determine whether they are benign or malignant. In such cases, our genetic doctors will help you navigate the next steps.

Who is the test recommended for?