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BRCA: Breast Cancer Gene

2024-02-24 09:46:58Biznes SHKRUAR NGA REDAKSIA VOX

BRCA: Breast Cancer Gene

Each person's DNA contains the code used to build the human body and keep it functioning. Genes are small sections of DNA that code for individual traits.

All inherited traits are passed through genes. Each person has two copies of each gene: one from each parent. Since each parent passes exactly half of their genes to each child, each parent's genetic trait has a 50% chance of being passed on to their offspring.

What is BRCA?

The name "BRCA" is an abbreviation for "BReast CAncer Gene". BRCA1 and BRCA2 are two different genes that have been found to affect a person's chances of developing breast cancer.

Everyone has the BRCA1 and BRCA2 genes. Despite what their names might suggest, BRCA genes do not cause breast cancer. In fact, these genes usually play a major role in preventing breast cancer. They help repair DNA breaks that can lead to cancer and uncontrolled tumor growth. For this reason, the BRCA genes are known as tumor suppressor genes.

However, in some people these tumor suppressor genes do not work properly. When a gene is altered or damaged, it does not work properly. This is called a gene mutation.

BRCA mutations

A small percentage of people (about one in 400, or 0.25% of the population) carry the mutated BRCA1 or BRCA2 genes. When a BRCA gene is mutated, it may no longer be effective at repairing damaged DNA and preventing of breast cancer. Because of this, people with a BRCA gene mutation are more likely to develop breast cancer and more likely to develop cancer at a younger age. The carrier of the mutated gene can also pass on a gene mutation to his or her offspring.

BRCA mutation risks

It is estimated that one in eight women, or approximately 12%, will be diagnosed with breast cancer in her lifetime.

However, women with certain genetic mutations have a higher lifetime risk of the disease. It is estimated that 55 – 65% of women with a BRCA1 mutation will develop breast cancer before the age of 70.

Approximately 45% of women with a BRCA2 mutation will develop breast cancer by age 70.

How is BRCA gene testing performed?

BRCA testing requires a single blood draw. The procedure is the same as drawing blood for any blood test.

What are the benefits of BRCA testing?

Knowing whether or not you have a BRCA gene mutation helps you better understand your cancer risk. This testing can also provide your family with information that affects their health.

What does it mean if the results are positive?

Testing positive for a BRCA mutation significantly increases the risk of cancer. But this does not mean that you will definitely suffer from cancer. Knowing that you have a BRCA gene mutation requires you to take active steps to prevent cancer. It also helps your family members better understand their risks.

Possible steps include:

· More frequent screening exams (such as mammograms).

· More detailed imaging examinations (such as breast MRI).

· Limited use of birth control pills, which can reduce the risk of cancer     

of the ovaries, but may increase the risk of breast cancer in some individuals.

· Use of cancer prevention medications, such as tamoxifen.

· Preventive surgery, such as prophylactic (preventive) mastectomy to remove healthy breast tissue before cancer develops, and prophylactic removal of the ovaries and fallopian tubes to reduce the risk of developing ovarian cancer.

What does it mean if the results are negative?

A negative result means you do not have a BRCA mutation. This also means that your children will not inherit a BRCA mutation from you.

A negative BRCA test does not guarantee that you will not get cancer. This means that the risk is the same as the general population.

If the test is negative, but you have one or more family members diagnosed with breast cancer before age 50, the implications are less clear. This may mean that your family has a different gene mutation that increases the risk of cancer.

What does it mean if the results are inconclusive?

It is possible to obtain inconclusive results, which may require further testing. Testing may show that you have a change in the BRCA1 or BRCA2 gene, but not a mutation known to be associated with an increased risk of breast cancer.

This result is called a Variant of Unknown Significance (VUS).

The geneticist can explain these results to you and help you decide whether you or other family members should have further genetic testing.

You can perform Genetic Testing for BRCA Genes at all Intermedica affiliates.

For detailed information, call 042 200 600 or send us an e-mail at [email protected]

 

 

 

 


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