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A woman with a family history of breast cancer is likely to wonder whether she carries an inherited genetic mutation that increases her risk of the disease. To find out, she can undergo a genetic test to determine whether she is indeed a carrier of gene mutations that increase the likelihood of both breast and ovarian cancer.

The detection of such a mutation determines the formulation of an effective cancer prevention strategy and facilitates risk management for blood relatives:

• What is hereditary breast cancer and when does the likelihood of its occurrence increase?

Breast cancer accounts for 30% of all malignant neoplasms in the female population. Of these, approximately 10% are due to heredity and develop in women who have pathogenic mutations, i.e. damage to specific types of genes, the so-called tumor suppressors, mainly in the BRCA1 and 2 genes or – secondarily – in the PALB2, CHEK2 and ATM genes.

In 80% of cases, the mutation concerns the BRCA1 and 2 genes, which are highly penetrant. This mutation increases the relative risk of developing breast cancer 5 to 7 times (probability 60% – 85%), while at the same time it increases the probability of developing ovarian cancer by 20% to 45%. The risk increases to a lesser but still significant extent (1.5 to 3 times), when there is a mutation in the PALB2, CHEK2 and ATM genes.

• What are tumor suppressor genes and how do they work?

Tumor suppressor genes have the main function of repairing damage to defective cells in the body. Such genes are BRCA1 and 2. The mutation in these genes means that they are unable to perform their tumor suppressor function, resulting in the defective cells that our body has created developing unhindered into cancerous ones. Thus, the chances of developing cancer increase significantly.

• Should all women be tested for hereditary cancer?

The existence of a family history of breast cancer does not necessarily mean that a woman should undergo genetic testing. The need for testing will arise in consultation with her doctor, who will consider the data (age, history, etc.), will create a risk profile and will provide instructions on when to start targeted tests for breast cancer. These tests, if the doctor deems it necessary, may also include genetic testing.

• When does EOPYY justify genetic testing and under what conditions?

Recently, EOPYY gave us the opportunity to prescribe genetic testing, however, the indications covered by the fund have not changed. Previously, women with an indication had to first undergo the examination and then receive compensation from the EOPYY. Now, we have the ability to prescribe the examination and patients do not need to pay money out of their own pocket.

However, the indications remain the same and concern women with diagnosed breast cancer who:

1. have been diagnosed at the age of under 45 or
2. have at least two family members who have been diagnosed with breast cancer or
3. a member of her family has already been tested and has been found positive for a gene mutation.

Also, EOPYY justifies genetic testing in women who have been diagnosed with ovarian cancer, regardless of age.

• What does a positive, negative and non-clinically significant finding in the genetic test result mean?

When the genetic test result is NEGATIVE, this means that no clinically significant, pathogenic mutation has been identified, there is no increased risk due to heredity, but the general risk of developing breast cancer remains. When the result is POSITIVE, it means that pathogenic mutations have been identified that lead to the development of hereditary cancer. UNKNOWN CLINICAL SIGNIFICANCE finding, it means that there are mutations, but that they have not yet been characterized as pathogenic or benign.

It should be noted here that, when the test comes out positive, this does not mean that breast cancer will definitely develop. However, it means that there is a very high probability of such an eventuality, and especially at the age of under 50 years, while there is a probability of more than 50% for cancer to occur in both breasts. Especially in the case of mutation of the BRCA 1 and 2 genes, the probability of ovarian cancer also increases significantly.

• What can we do in the case positive genetic test;

In the case of a positive finding in the genetic test, two options are basically open:

The first concerns a close monitoring strategy based on special protocols that exist for these cases. The monitoring strategy does not prevent the development of breast cancer, but allows for the timely detection and treatment of certain types of breast cancer at an early stage. Unfortunately, however, there are types of breast cancer that cannot be detected in time.

The alternative strategy is more aggressive and invasive and involves the removal of the two main organs that are most likely to develop cancer in these gene mutations, namely the breasts and ovaries, with mastectomy and salpingo-oophorectomy respectively.

Ovariectomy is equally important because ovarian cancer is a type of malignancy that is not easy to detect in time. It is worth noting that oophorectomy, when performed at a young age, that is, under 40 years of age, contributes to reducing the risk of developing breast cancer.

There is a third option for preventing breast cancer, the administration of Chemoprophylaxis. That is, the administration of drugs that reduce the action or production of estrogens, but can be given for a limited period of time, have side effects and only protect against the development of hormone-sensitive breast cancer, which is not the most common type of hereditary cancer.

• How important is it to choose a Specialized Surgeon and Clinic with modern infrastructure and specially trained staff?

The effective management of hereditary breast cancer requires great experience and specialization, both in guiding a patient after the discovery of a gene mutation, and in treating a diagnosed disease. It also requires the cooperation of many medical specialties, modern infrastructure, innovative equipment and specially trained staff, specifications that only a specialized breast center, such as the Athens Medical Center, can support.