Hereditary Breast and Ovarian Cancer

What Is Hereditary Cancer and Can Cancer Be Inherited?

Many people wonder whether they have a predisposition to developing cancer. This question is particularly important for people whose close relatives have been diagnosed with a malignant neoplasm. It is very important to understand that cancer itself is not inherited – what may be inherited is a predisposition to developing cancer. Therefore, a more accurate term is genetically determined cancer.

Every person has two copies of their genetic material – one inherited from the mother and one from the father. In either copy, we may inherit a mutated, i.e. abnormal, gene. There are more than 150 genes associated with cancer development. Some have a greater potential to contribute to cancer formation, while others have a lower one. In many cases, mutations in several genes are required before a malignant tumor ultimately develops.

Gene Mutations Leading to Cancer Development

Every cancer results from mutations occurring in genes involved in carcinogenesis, which means that cancer is a genetically determined disease.

• Sporadic cancers are cancers that develop in individual cells of our body after birth. This happens when our genetic material is exposed to various factors that cause mutations, known as mutagens. Mutagens (in this case carcinogens) may include tobacco smoke, ionizing radiation, viruses such as HPV, air pollution and many other factors. These predispositions are not inherited. They result from the effects of the environment on our bodies.
• Hereditary cancers are in fact associated with mutations passed on to us by our parents. These mutations are present in every cell of the body. This is why different types of cancer may occur in different organs within the same family, while the common factor is the particular mutation that is passed on through an egg cell or sperm cell. A person with a mutation in one copy of a gene is referred to as a mutation carrier.

One of the most common misconceptions is that if breast cancer occurs in a family, the problem concerns only the women in that family. Mutations can be inherited equally from the mother or the father, with a 50% chance from either parent.

BRCA1 and BRCA2 Gene Mutations and the Risk of Cancer

These mutations are responsible for 5% of breast cancers in women and 30% of ovarian cancers, as well as for the majority of breast cancers in men (1% of all breast cancers occur in men!!!). This is why they are referred to as high-risk mutations.

It is estimated that approximately 1 in 300 to 1 in 800 people in the general population carries a mutation in the BRCA1 or BRCA2 gene.

• In women with a BRCA1 mutation, the risk of developing ovarian cancer may reach 39–46%.
• In women with a BRCA2 mutation, the risk of developing ovarian cancer is 12–20%. The estimated risk of breast cancer in people with a BRCA1 or BRCA2 mutation is 65–94%, regardless of sex.
• Mutations in the BRCA1 or BRCA2 genes may contribute not only to breast and ovarian cancer, but also to many other malignant neoplasms, such as pancreatic cancer, prostate cancer and lung cancer, particularly in non-smokers.

Indications for Genetic Testing for BRCA1 and BRCA2 Mutations

1.   Women diagnosed with high-risk breast cancer (your oncologist will explain this in detail).

2.   Breast cancer diagnosed before the age of 50.

3.   Triple-negative breast cancer diagnosed before the age of 60.

4.   All men diagnosed with breast cancer.

5.   All men diagnosed with aggressive prostate cancer.

6.   People with a family history of breast, ovarian, pancreatic or prostate cancer.

7.   People whose family members have a confirmed BRCA1 or BRCA2 mutation.

8.   People who do not know their biological family and are therefore uncertain about their family history of cancer – at the patient’s request.

9.   People who feel a psychological need to determine whether they carry such mutations – at the patient’s request.

Detection of BRCA1 and BRCA2 Gene Mutations

Germline, i.e. hereditary, mutations only need to be tested once in a lifetime. A person has either inherited such a mutation or they have not.

Because these mutations are present in every cell of the body, the most commonly used materials for testing are blood or saliva. Since the test involves analysis of the human genome, a special consent form is required, and the examination must be performed by an appropriately authorized laboratory.

Genetic tests may detect only selected mutations in a single gene, or they may detect a wide range of different mutations in multiple genes, known as genetic testing panels. Unfortunately, this is reflected in the cost of the examination.

More advanced methods and tests assessing a greater number of mutations are correspondingly more expensive.

We invite you to undergo genetic testing at our Tartaczna 2 Medical Centre.

We offer:

• modern CANCER SCREEN panels (testing for more than 200 different genetic mutations), with sample collection available Monday to Thursday from 08:00 to 12:00 – no appointment required.
• other genetic tests, including BRCA1 and BRCA2 mutation testing, as well as panels for specific types of cancer, available Monday to Friday from 08:00 to 12:00 and on Saturdays from 09:00 to 12:00 – no appointment required.
• the price of genetic testing includes consultation of the results with an oncologist, if requested by the patient, after arranging an appointment with the reception desk.
• individual sample collection outside the hours listed above can be arranged following prior telephone contact.

We invite you to view our offer in the Price List section: genetic diagnostics for cancer, and to book a consultation with our oncologist, Dr Magdalena Korożan.

Book an appointment through our website (by e-mail, telephone or online registration in the Contact section).