BRCA gene test: Gene mutations and cancer risk

Modern medicine offers completely new possibilities also in terms of diagnostics. Test for breast cancer gene is slowly becoming one of the key methods of cancer prevention. The reason for its growing popularity are its numerous benefits. One of the most important is the accuracy of the test. The obtained result (both positive and negative) provides very valuable information on the risk of cancer development and therefore allows for the early introduction of prophylaxis.

Is it worth doing genetic tests for cancer?

Genes are a kind of instruction for the organism that makes each of us unique. Thanks to genes, the body knows how it should grow and develop. They contain information on eye color, hair and height. Some of them are responsible for the division of individual cells. When these genes malfunction due to damage or the presence of a mutation, the life cycle of cells is disturbed. That’s the moment in which cancer cells can develop.

There are two types of mutations:

• Acquired gene mutation (somatic) that can occur in the body at any time throughout life;
• Hereditary (germinal) gene mutation that is present in the body from birth and is passed on to the next generations.

Heredity usually affects people whose close relatives has been diagnosed with the same type of cancer. Genetic testing for cancer and detecting gene mutations gives the opportunity to make informed health decisions. Thanks to it, it is possible to create an individualized plan of screening tests, allowing for early detection of neoplastic changes.

What do BRCA genes do?

BRCA is an acronym for "Breast Cancer gene". Contrary to what the name of the BRCA gene suggests, it is not a direct cause of breast cancer. According to the National Breast Cancer Foundation, healthy BRCAs play a very important role in preventing cancer and take part in repairing DNA damage. For this reason, they are so-called suppressor genes, which are responsible for controlling cells’ life cycle. The presence of BRCA mutations is closely related to the increased risk of developing not only breast cancer, but also ovarian cancer.

Inheriting the BRCA1 and BRCA2 mutations

In the case of BRCA genes, we deal with germline gene mutation. It can be inherited from both parents, and each child has a 50% chance of becoming a carrier of the mutation. According to the National Cancer Institute, the occurrence of a BRCA mutation raises the risk of cancer, but its degree varies depending on the type of mutation.

• Breast cancer - risk of developing cancer before reaching 70-80 years old in case of BRCA1 mutation is 55-72% and in case of BRCA2 mutation it’s 45-69%;
• Ovarian cancer - risk of developing cancer before reaching 70-80 years old in case of BRCA1 mutation is 39-44% and in case of BRCA2 mutation it’s 11-17%;

It should also be remembered that the risk of cancer development is also influenced by other factors, such as, for example, smoking or exposure to harmful substances.

BRCA gene study – what is it?

A genetic test for cancer is nothing more than taking a blood sample, which is then carefully analyzed in a laboratory.

The most frequently tested mutations include:

• BRCA1 gene test – the most frequently tested mutations: C61G, 4153delA, 5382insC, 185delAG, 3819del5, C64R
• BRCA2 gene test – the C5972T mutation is tested

The waiting time for the test results is usually 20 working days. No preparation is necessary before the test is performed - the test person does not have to be fasting.

BRCA1 and BRCA2 studies - price

The price of BRCA1 and BRCA2 tests, depending on the location, varies between a couple of hundred dollars to several thousand dollars (usually around $4,000). The cost can be covered by insurance. Some gene-testing companies provide programs for those who don’t have insurance, that bring the cost to 250 dollars. Testing for the mutation of each protein can be performed separately, then the cost will be adequately lower. Some laboratories offer complete genetic diagnostics. Such a package can include up to 21 mutations in 9 genes – including CHEK2 test. It is worth choosing a package that will allow you to get a complete picture, and thus accurately interpret and assess the risk of different types of cancer.

For more information, check Cancer prevention. What tests to perform?